Alexander Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ALXDRD MCID: ALX003 MIFTS: 63	Alexander Disease (ALXDRD) Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Collapse all tables

Sources

Aliases & Classifications for Alexander Disease

MalaCards integrated aliases for Alexander Disease:

Name: Alexander Disease ⁵⁷ ¹¹ ²⁴ ¹⁹ ⁴² ⁵² ⁵⁸ ⁷⁵ ⁷³ ²⁸ ¹² ⁵ ⁴³ ¹⁴ ⁷¹ ³³

Alexander's Disease ¹¹ ⁴² ⁷³ ³⁸

Alexanders Leukodystrophy ¹⁹ ⁷¹

Alxdrd ⁵⁷ ⁷³

Axd ⁴² ⁵⁸

Megalencephaly in Infancy Accompanied by Progressive Spasticity and Dementia ¹⁹

Fibrinoid Degeneration of Astrocytes ⁴²

Leukodystrophy with Rosenthal Fibers ⁴²

Dysmyelinogenic Leukodystrophy ⁴²

Demyelinogenic Leukodystrophy ⁴²

Alexander's Leukodystrophy ³³

Alexander Disease Type Ii ⁵⁸

Alexander Disease Type I ⁵⁸

Alexanders Disease ⁵³

Axd Type Ii ⁵⁸

Axd Type I ⁵⁸

Alx ⁴²

Characteristics:

Inheritance:

Alexander Disease: Autosomal dominant ⁵⁸ ⁵⁷

Alexander Disease Type Ii: Autosomal dominant ⁵⁸

Prevelance:

<1/1000000 (Japan) ⁵⁸

Age Of Onset:

Alexander Disease: All ages ⁵⁸

Alexander Disease Type Ii: Adolescent,Adult,Childhood ⁵⁸

Alexander Disease Type I: Infancy,Neonatal ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
average age of onset 6 months (range birth - 2 years)
death by age 5 (infantile form)
three variants distinguished by age of onset - infantile (onset before age 2), juvenile (onset in childhood), and adult
juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity
adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis

GeneReviews:

²⁴

Penetrance Penetrance appears to be nearly 100% in individuals with the infantile and juvenile forms [li et al 2002, messing & brenner 2003a, messing 2018]....

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

Other sphingolipidosis

ICD11: ³³

Diseases of the nervous system

Multiple sclerosis or other white matter disorders

Leukodystrophies

Alexander disease

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

External Ids:

Disease Ontology ¹¹ DOID:4252

OMIM® ⁵⁷ 203450

MeSH ⁴³ D038261

NCIt ⁴⁹ C84545

SNOMED-CT ⁶⁸ 81854007

MESH via Orphanet ⁴⁴ D038261

ICD10 via Orphanet ³² E75.2

UMLS via Orphanet ⁷² C0270726

Orphanet ⁵⁸ ORPHA363717 ORPHA363722 ORPHA58

MedGen ⁴⁰ C0270726

ICD11 ³³ 2023359698

UMLS ⁷¹ C0270726 C2930798

Sources

Summaries for Alexander Disease

MedlinePlus Genetics: ⁴² Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses could be disrupted. As myelin deteriorates in leukodystrophies such as Alexander disease, nervous system functions are impaired.Most cases of Alexander disease begin before age 2 and are described as the infantile form. Signs and symptoms of the infantile form typically include an enlarged brain and head size (megalencephaly), seizures, stiffness in the arms and/or legs (spasticity), intellectual disability, and developmental delay. Less frequently, onset occurs later in childhood (the juvenile form) or in adulthood. Common problems in juvenile and adult forms of Alexander disease include speech abnormalities, swallowing difficulties, seizures, and poor coordination (ataxia). Rarely, a neonatal form of Alexander disease occurs within the first month of life and is associated with severe intellectual disability and developmental delay, a buildup of fluid in the brain (hydrocephalus), and seizures.Alexander disease is also characterized by abnormal protein deposits known as Rosenthal fibers. These deposits are found in specialized cells called astroglial cells, which support and nourish other cells in the brain and spinal cord (central nervous system).

MalaCards based summary: Alexander Disease, also known as alexander's disease, is related to leukodystrophy and multiple system atrophy 1, and has symptoms including seizures and muscle spasticity. An important gene associated with Alexander Disease is GFAP (Glial Fibrillary Acidic Protein), and among its related pathways/superpathways are Signaling by Receptor Tyrosine Kinases and Neuroscience. The drug Metronidazole has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and eye, and related phenotypes are macrocephaly and intellectual disability

NINDS: ⁵² Alexander disease is one of a group of neurological conditions known as the leukodystrophies. Leukodystrophies are disorders that result from abnormalities in myelin, the “white matter” that protects nerve fibers in the brain. In Alexander disease, the destruction of white matter is accompanied by the formation of Rosenthal fibers--abnormal clumps of protein that accumulate in non-nerve cells (astrocytes) in the brain. The most common type of Alexander disease is the infantile form that usually begins during the first two years of life. Symptoms include mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size, and seizures. The juvenile form of Alexander disease has an onset between the ages of two and thirteen years. These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Adult-onset forms of Alexander disease are less common. The symptoms sometimes mimic those of Parkinson’s disease or multiple sclerosis, or may present primarily as a psychiatric disorder. The disease occurs in both males and females, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution. Alexander disease is a progressive and often fatal disease.

GARD: ¹⁹ Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) and abnormal protein deposits known as Rosenthal fibers. Symptoms of the infantile form include an enlarged brain and head, seizures, stiffness in the arms and/or legs, intellectual disability, and delayed physical development. Common problems in juvenile and adult forms of Alexander disease include speech abnormalities, swallowing difficulties, and poor coordination. Alexander disease is caused by genetic changes in the GFAP gene. While this condition is inherited in an autosomal dominant fashion, most cases result from new genetic changes in the gene.

OMIM®: ⁵⁷ In decreasing order of frequency, 3 forms of Alexander disease (ALXDRD) are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene. (203450) (Updated 08-Dec-2022)

Orphanet ⁵⁸ Alexander disease: A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.

Alexander disease type i: An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.

Alexander disease type ii: An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.

UniProtKB/Swiss-Prot: ⁷³ A rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy with macrocephaly, seizures, and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes.

Disease Ontology: ¹¹ A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.

Wikipedia: ⁷⁵ Alexander disease is a very rare autosomal dominant leukodystrophy, which are neurological conditions... more...

GeneReviews: NBK1172

Sources

Related Diseases for Alexander Disease

Diseases related to Alexander Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 258, show less)

#	Related Disease	Score	Top Affiliating Genes
1	leukodystrophy	31.8	PLP1 NDUFV1 GFAP CRYAB CRYAA
2	multiple system atrophy 1	30.2	RPS27A HTT GFAP CRYAB
3	movement disease	30.1	VIM RPS27A HTT GFAP
4	supranuclear palsy, progressive, 1	30.0	RPS27A HTT GFAP
5	ischemia	29.9	SLC1A2 MAPK14 HSPB1 GFAP CASP3
6	cerebral degeneration	29.9	PLP1 GFAP CRYAA
7	status epilepticus	29.8	SLC1A2 MTOR GFAP CASP3
8	central nervous system disease	29.7	PLP1 GFAP CRYAB CRYAA
9	motor neuron disease	29.6	SLC1A2 RPS27A HTT HSPB1 CRYAA
10	parkinson disease, late-onset	29.3	RPS27A MTOR MAPK14 HTT HSPB1 CRYAA
11	myopathy	28.9	VIM SYNM RPS27A PLEC NDUFV1 HTT
12	alzheimer disease, familial, 1	28.5	SLC1A2 RPS27A PLP1 MTOR MAPK14 HTT
13	amyotrophic lateral sclerosis 1	28.5	SLC1A2 RPS27A MTOR KCNJ10 HTT HSPB3
14	megalencephaly	10.4
15	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.4
16	spasticity	10.4
17	glioma susceptibility 1	10.3
18	pathologic nystagmus	10.3
19	myoclonus	10.3
20	exudative vitreoretinopathy 4	10.3	VIM MTOR
21	clear cell ependymoma	10.3	VIM GFAP
22	progressive bulbar palsy	10.3
23	tremor	10.3
24	myopathy, myofibrillar, 3	10.3	SYNM PLEC CRYAB
25	early-onset lamellar cataract	10.3	CRYAB CRYAA
26	epidermolysis bullosa simplex 5a, ogna type	10.2	SYNM PLEC
27	cataract 16, multiple types	10.2	CRYAB CRYAA
28	epithelial basement membrane dystrophy	10.2	SYNM PLEC
29	subependymal giant cell astrocytoma	10.2	MTOR GFAP CRYAB
30	hypotonia	10.2
31	adult respiratory distress syndrome	10.2
32	myopathy, myofibrillar, 2	10.2	PLEC CRYAB CRYAA
33	rhabdoid meningioma	10.2	VIM GFAP
34	autosomal recessive limb-girdle muscular dystrophy type 2q	10.2	SYNM PLEC
35	adult syndrome	10.2
36	encephalomalacia	10.2	SLC1A2 GFAP CASP3
37	spinal and bulbar muscular atrophy, x-linked 1	10.1	HTT HDAC6 CRYAA
38	aceruloplasminemia	10.1
39	scoliosis	10.1
40	megalencephalic leukoencephalopathy with subcortical cysts	10.1
41	parkinsonism	10.1
42	hydrocephalus	10.1
43	paraplegia	10.1
44	myopathy, myofibrillar, 1	10.1	SYNM RPS27A PLEC CRYAB
45	retinal ischemia	10.1	HSPB1 GFAP CRYAA CASP3
46	early-onset nuclear cataract	10.1	CRYAB CRYAA
47	charcot-marie-tooth disease, axonal, type 2l	10.1	HSPB3 HSPB1 CRYAA
48	sexual sadism	10.1	HSPB3 HSPB2 HSPB1
49	respiratory syncytial virus infectious disease	10.1
50	astroblastoma	10.1	VIM GFAP
51	toxic encephalopathy	10.1	SLC1A2 HTT GFAP CASP3
52	hydrocephalus, congenital, 1	10.1
53	west syndrome	10.1
54	brain stem glioma	10.1
55	dystonia	10.1
56	glioma	10.1
57	pure autonomic failure	10.1
58	encephalopathy	10.1
59	glial tumor	10.1
60	leigh syndrome	10.1
61	basal ganglia calcification	10.1
62	hemimegalencephaly	10.1
63	developmental and epileptic encephalopathy 35	10.1	SLC1A2 KCNJ10
64	myofibrillar myopathy	10.1	SYNM PLEC HSPB1 CRYAB CRYAA
65	intraocular pressure quantitative trait locus	10.1	HSPB2 HSPB1 CRYAB CRYAA
66	charcot-marie-tooth disease, axonal, type 2f	10.0	HSPB3 HSPB1 HDAC6 CRYAA
67	frontonasal dysplasia 1	10.0
68	polydactyly	10.0
69	pulmonary edema	10.0
70	pick disease of brain	10.0	RPS27A HTT GFAP CRYAB CASP3
71	neuronopathy, distal hereditary motor, type iic	10.0	HSPB3 HSPB2 CRYAB CRYAA
72	anorexia nervosa	10.0
73	spastic paraplegia 7, autosomal recessive	10.0
74	sleep apnea	10.0
75	spastic ataxia	10.0
76	mild cognitive impairment	10.0
77	hemiplegia	10.0
78	visual epilepsy	10.0
79	lateral sclerosis	10.0
80	hereditary spastic paraplegia	10.0
81	adrenal carcinoma	10.0
82	intracranial hypertension	10.0
83	spastic paraparesis	10.0
84	dysautonomia	10.0
85	epidermolysis bullosa simplex 5b, with muscular dystrophy	10.0	SYNM PLEC
86	atherosclerosis susceptibility	9.9
87	hypertelorism	9.9
88	keratitis, hereditary	9.9
89	polydactyly, preaxial i	9.9
90	rheumatoid arthritis	9.9
91	cystic fibrosis	9.9
92	sjogren syndrome	9.9
93	asthma	9.9
94	frontonasal dysplasia 3	9.9
95	aspergillosis	9.9
96	cerebral artery occlusion	9.9
97	short bowel syndrome	9.9
98	gastric antral vascular ectasia	9.9
99	endometriosis	9.9
100	arthritis	9.9
101	infectious encephalitis	9.9
102	immune-mediated thrombotic thrombocytopenic purpura	9.9
103	neuromuscular disease	9.9	PLEC HTT HSPB1 HDAC6 CRYAB CRYAA
104	machado-joseph disease	9.9	RPS27A HTT HSPB2 HSPB1 BLZF1
105	creutzfeldt-jakob disease	9.9	RPS27A HTT HSPB1 GFAP CRYAB CRYAA
106	multiple sclerosis	9.9
107	factor vii deficiency	9.9
108	papillon-lefevre syndrome	9.9
109	metachromatic leukodystrophy	9.9
110	adrenoleukodystrophy	9.9
111	aplastic anemia	9.9
112	hypopigmentation, organomegaly, and delayed myelination and development	9.9
113	aspiration pneumonia	9.9
114	thrombotic thrombocytopenic purpura	9.9
115	spastic hemiplegia	9.9
116	pancytopenia	9.9
117	megaesophagus	9.9
118	focal epilepsy	9.9
119	cerebellar disease	9.9
120	glioblastoma	9.9
121	high grade glioma	9.9
122	purpura	9.9
123	lactic acidosis	9.9
124	pilocytic astrocytoma	9.9
125	febrile seizures	9.9
126	distal hereditary motor neuronopathy type 2	9.9	HSPB3 HSPB2 HSPB1 CRYAB CRYAA
127	rett syndrome	9.9	MTOR KCNJ10 HTT HDAC6
128	dilated cardiomyopathy	9.8	PLEC MTOR MAPK14 CRYAB CRYAA CASP3
129	cataract	9.8	VIM HSPB2 HSPB1 CRYAB CRYAA CASP3
130	gastroesophageal reflux	9.8
131	cone-rod dystrophy 2	9.8
132	seizures, benign familial neonatal, 1	9.8
133	laryngomalacia	9.8
134	spinocerebellar ataxia 6	9.8
135	hypothyroidism, congenital, nongoitrous, 2	9.8
136	hydrocephalus due to congenital stenosis of aqueduct of sylvius	9.8
137	krabbe disease	9.8
138	canavan disease	9.8
139	thyrotropin-releasing hormone deficiency	9.8
140	fragile x tremor/ataxia syndrome	9.8
141	congenital hemidysplasia with ichthyosiform erythroderma and limb defects	9.8
142	pelizaeus-merzbacher disease	9.8
143	frontotemporal dementia	9.8
144	hypothyroidism, congenital, nongoitrous, 3	9.8
145	adrenal cortical carcinoma	9.8
146	fragile x-associated tremor/ataxia syndrome	9.8
147	hereditary ataxia	9.8
148	dropped head syndrome	9.8
149	ptosis	9.8
150	low grade glioma	9.8
151	central precocious puberty	9.8
152	microcephaly	9.8
153	respiratory failure	9.8
154	exotropia	9.8
155	limb-girdle muscular dystrophy	9.8
156	pseudobulbar palsy	9.8
157	quadriplegia	9.8
158	dementia	9.8
159	vestibular nystagmus	9.8
160	toxic shock syndrome	9.8
161	obstructive hydrocephalus	9.8
162	benign neonatal seizures	9.8
163	autosomal dominant cerebellar ataxia	9.8
164	benign familial neonatal epilepsy	9.8
165	epilepsy	9.8
166	impotence	9.8
167	cerebral palsy	9.8
168	spinal cord disease	9.8
169	brain edema	9.8
170	sleep disorder	9.8
171	adult acute lymphocytic leukemia	9.8
172	mitochondrial myopathy	9.8
173	measles	9.8
174	vasculitis	9.8
175	bacterial pneumonia	9.8
176	speech disorder	9.8
177	47 xxx syndrome	9.8
178	children's interstitial lung disease	9.8
179	precocious puberty	9.8
180	grn-related frontotemporal lobar degeneration	9.8
181	hypertonia	9.8
182	syncope	9.8
183	traumatic brain injury	9.8
184	cryptogenic late-onset epileptic spasms	9.8
185	rare neurodegenerative disease	9.8
186	multiple system atrophy, cerebellar type	9.8
187	mitochondrial disease	9.8
188	peripheral nervous system disease	9.8	MTOR HTT HSPB1 HDAC6 GFAP CRYAA
189	skin disease	9.8	PLEC MTOR MAPK14 HSPB1 CASP3
190	aortic aneurysm, familial abdominal, 1	9.8
191	episodic ataxia, type 2	9.8
192	autoimmune disease	9.8
193	cleft palate, isolated	9.8
194	coloboma of macula	9.8
195	osteoporosis	9.8
196	retinoblastoma	9.8
197	aplasia of lacrimal and salivary glands	9.8
198	schizophrenia	9.8
199	neural tube defects	9.8
200	enhanced s-cone syndrome	9.8
201	facial clefting, oblique, 1	9.8
202	fryns microphthalmia syndrome	9.8
203	potocki-shaffer syndrome	9.8
204	neural tube defects, folate-sensitive	9.8
205	sickle cell anemia	9.8
206	pulmonary disease, chronic obstructive	9.8
207	parietal foramina 2	9.8
208	bone mineral density quantitative trait locus 8	9.8
209	premature ovarian failure 7	9.8
210	hypotrichosis and recurrent skin vesicles	9.8
211	bone mineral density quantitative trait locus 15	9.8
212	frontonasal dysplasia 2	9.8
213	dengue virus	9.8
214	hyperlipoproteinemia, type iii	9.8
215	helix syndrome	9.8
216	lipoprotein quantitative trait locus	9.8
217	chikungunya	9.8
218	fetal alcohol syndrome	9.8
219	anaplastic large cell lymphoma	9.8
220	secondary progressive multiple sclerosis	9.8
221	thrombosis	9.8
222	mucositis	9.8
223	sialadenitis	9.8
224	microphthalmia	9.8
225	allergic conjunctivitis	9.8
226	dengue disease	9.8
227	gout	9.8
228	thrombocytopenia	9.8
229	squamous cell carcinoma	9.8
230	larynx cancer	9.8
231	laryngeal benign neoplasm	9.8
232	laryngeal squamous cell carcinoma	9.8
233	aortic aneurysm	9.8
234	arthropathy	9.8
235	intracranial thrombosis	9.8
236	syringocystadenoma papilliferum	9.8
237	eye disease	9.8
238	hemolytic anemia	9.8
239	conjunctivitis	9.8
240	gastrointestinal system disease	9.8
241	peritonitis	9.8
242	cleft lip	9.8
243	viral infectious disease	9.8
244	bowel dysfunction	9.8
245	alopecia	9.8
246	sickle cell disease	9.8
247	49, xxxxy syndrome	9.8
248	cytokine deficiency	9.8
249	klebsiella infection	9.8
250	spinal cord injury	9.8
251	cleft lip/palate	9.8
252	facial cleft	9.8
253	fungal keratitis	9.8
254	coloboma of eyelid	9.8
255	muscular atrophy	9.8	SLC1A2 MTOR HTT HSPB3 HSPB1 CASP3
256	congenital nervous system abnormality	9.8	MTOR KCNJ10 HTT GFAP CRYAA CASP3
257	charcot-marie-tooth disease	9.6	PLP1 HTT HSPB3 HSPB2 HSPB1 HDAC6
258	nervous system disease	8.8	VIM SLC1A2 PLP1 MTOR KCNJ10 HTT

Graphical network of the top 20 diseases related to Alexander Disease:

Sources

Symptoms & Phenotypes for Alexander Disease

Human phenotypes related to Alexander Disease:

⁵⁸ ³⁰ (showing 95, show less)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	macrocephaly ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000256
2	intellectual disability ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001249
3	seizure ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%) Frequent (79-30%)	HP:0001250
4	spasticity ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%) Frequent (79-30%) Occasional (29-5%)	HP:0001257
5	agenesis of corpus callosum ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001274
6	megalencephaly ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001355
7	failure to thrive ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%) Frequent (79-30%)	HP:0001508
8	frontal bossing ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002007
9	nausea and vomiting ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002017
10	clonus ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002169
11	eeg abnormality ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002353
12	scoliosis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%) Occasional (29-5%) Frequent (79-30%)	HP:0002650
13	abnormal pyramidal sign ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%) Frequent (79-30%)	HP:0007256
14	large face ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0100729
15	ptosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000508
16	nystagmus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%) Frequent (79-30%)	HP:0000639
17	diplopia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000651
18	emotional lability ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000712
19	depression ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000716
20	hyperhidrosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000975
21	ataxia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%) Frequent (79-30%) Occasional (29-5%)	HP:0001251
22	dysarthria ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%) Frequent (79-30%) Occasional (29-5%)	HP:0001260
23	gait disturbance ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001288
24	tremor ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001337
25	dysphonia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%) Frequent (79-30%)	HP:0001618
26	dysphagia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%) Frequent (79-30%) Occasional (29-5%)	HP:0002015
27	constipation ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002019
28	hypothermia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002045
29	tetraplegia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002445
30	cerebral calcification ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002514
31	hypotension ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002615
32	kyphosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002808
33	sleep apnea ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0010535
34	facial palsy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0010628
35	recurrent singultus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0100247
36	aphasia ³⁰	Frequent (33%)		HP:0002381
37	high palate ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000218
38	hydrocephalus ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%) Occasional (29-5%)	HP:0000238
39	short neck ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000470
40	diabetes mellitus ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000819
41	hypothyroidism ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000821
42	hypertension ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000822
43	precocious puberty ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000826
44	osteopenia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000938
45	hypotonia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%) Very rare (<4-1%)	HP:0001252
46	sudden cardiac death ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001645
47	chorea ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002072
48	respiratory insufficiency ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002093
49	developmental regression ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002376
50	aqueductal stenosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002410
51	bowel incontinence ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002607
52	hyperlordosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003307
53	hyperpigmented nevi ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007481
54	self-injurious behavior ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0100716
55	abnormal autonomic nervous system physiology ⁵⁸ ³⁰	Occasional (7.5%)	Frequent (79-30%)	HP:0012332
56	infectious encephalitis ³⁰	Occasional (7.5%)		HP:0002383
57	babinski sign ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0003487
58	fatigue ³⁰	Very rare (1%)		HP:0012378
59	dysmetria ³⁰	Very rare (1%)		HP:0001310
60	apathy ³⁰	Very rare (1%)		HP:0000741
61	drowsiness ³⁰	Very rare (1%)		HP:0002329
62	pendular nystagmus ³⁰	Very rare (1%)		HP:0012043
63	microcoria ³⁰	Very rare (1%)		HP:0025492
64	palatal tremor ³⁰	Very rare (1%)		HP:0010530
65	abnormal dentate nucleus morphology ³⁰	Very rare (1%)		HP:0100321
66	progressive macrocephaly ⁵⁸ ³⁰		Frequent (79-30%)	HP:0004481
67	hyperreflexia ⁵⁸		Very frequent (99-80%) Frequent (79-30%) Occasional (29-5%)
68	neurological speech impairment ⁵⁸		Very frequent (99-80%)
69	sleep disturbance ⁵⁸		Very frequent (99-80%) Occasional (29-5%)
70	abnormality of eye movement ⁵⁸		Frequent (79-30%)
71	dysphasia ⁵⁸		Frequent (79-30%)
72	muscle weakness ⁵⁸		Occasional (29-5%)
73	encephalitis ⁵⁸		Occasional (29-5%)
74	dysautonomia ⁵⁸		Occasional (29-5%)
75	global developmental delay ⁵⁸		Occasional (29-5%)
76	vomiting ⁵⁸		Very rare (<4-1%)
77	bulbar signs ³⁰			HP:0002483
78	cachexia ⁵⁸		Occasional (29-5%)
79	cerebellar atrophy ⁵⁸		Frequent (79-30%)
80	rigidity ⁵⁸		Occasional (29-5%)
81	limb muscle weakness ⁵⁸		Frequent (79-30%)
82	spastic paraparesis ⁵⁸		Frequent (79-30%)
83	abnormal cerebral white matter morphology ⁵⁸		Very frequent (99-80%)
84	generalized hypotonia ⁵⁸		Very rare (<4-1%)
85	abnormal thalamic mri signal intensity ⁵⁸		Frequent (79-30%)
86	urinary bladder sphincter dysfunction ⁵⁸		Frequent (79-30%)
87	cervical spinal cord atrophy ⁵⁸		Very frequent (99-80%)
88	increased csf protein ³⁰			HP:0002922
89	abnormal periventricular white matter morphology ⁵⁸		Frequent (79-30%)
90	focal t2 hyperintense basal ganglia lesion ⁵⁸		Very frequent (99-80%)
91	diffuse demyelination of the cerebral white matter ³⁰			HP:0007162
92	abnormality of the medulla oblongata ⁵⁸		Very frequent (99-80%)
93	periventricular cysts ⁵⁸		Frequent (79-30%)
94	palatal myoclonus ⁵⁸		Frequent (79-30%) Very rare (<4-1%)
95	rosenthal fibers ⁵⁸		Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neurologic Central Nervous System:
spasticity
hydrocephalus
seizures
psychomotor regression
diffuse demyelination (increased signal intensity in t2-weighted images, especially frontal lobes)
more

Laboratory Abnormalities:
presence of rosenthal fibers (cytoplasmic inclusions) in astrocytes
presence of glial fibrillary acidic proteins (gfap) in astrocytes
elevated csf protein

Head And Neck Head:
progressive macrocephaly

Clinical features from OMIM®:

203450 (Updated 08-Dec-2022)

UMLS symptoms related to Alexander Disease:

seizures; muscle spasticity

GenomeRNAi Phenotypes related to Alexander Disease according to GeneCards Suite gene sharing:

²⁵ (showing 2, show less)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.15	BLZF1 CASP3 CRYAA CRYAB GFAP HDAC6
2	no effect	GR00402-S-2	10.15	BLZF1 CASP3 CRYAB HSPB1 HSPB3 HTT

MGI Mouse Phenotypes related to Alexander Disease:

⁴⁵ (showing 7, show less)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.13	CASP3 CRYAB GFAP HDAC6 HSPB1 HSPB3
2	nervous system	MP:0003631	10.11	CASP3 GFAP HDAC6 HTT KCNJ10 MAPK14
3	normal	MP:0002873	10.1	GFAP HDAC6 HSPB1 HTT MAPK14 MTOR
4	muscle	MP:0005369	10.02	CASP3 CRYAB GFAP HTT MAPK14 MTOR
5	growth/size/body region	MP:0005378	9.97	CASP3 GFAP HDAC6 HSPB1 HSPB2 HTT
6	cellular	MP:0005384	9.83	CASP3 CRYAA CRYAB GFAP HDAC6 HSPB1
7	behavior/neurological	MP:0005386	9.5	CASP3 CRYAB GFAP HDAC6 HSPB2 HTT

Sources

Drugs & Therapeutics for Alexander Disease

Drugs for Alexander Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 1, show less)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Metronidazole

Approved

443-48-1, 69198-10-3

4173

Synonyms:

1-(2-Hydroxy-1-ethyl)-2-methyl-5-nitroimidazole

1-(2-Hydroxyethyl)-2-methyl-5-nitroimidazole

1-(beta-Ethylol)-2-methyl-5-nitro-3-azapyrrole

1-(beta-Hydroxyethyl)-2-methyl-5-nitroimidazole

1-(beta-Oxyethyl)-2-methyl-5-nitroimidazole

1-(b-Ethylol)-2-methyl-5-nitro-3-azapyrrole

1-(b-Hydroxyethyl)-2-methyl-5-nitroimidazole

1-(b-Oxyethyl)-2-methyl-5-nitroimidazole

1-(Β-ethylol)-2-methyl-5-nitro-3-azapyrrole

1-(Β-hydroxyethyl)-2-methyl-5-nitroimidazole

1-(Β-oxyethyl)-2-methyl-5-nitroimidazole

2 Methyl 5 nitroimidazole 1 ethanol

2-Methyl-1-(2-hydroxyethyl)-5-nitroimidazole

2-Methyl-3-(2-hydroxyethyl)-4-nitroimidazole

2-Methyl-5-nitroimidazole-1-ethanol

ACEA

Acromona

ANABACT

Anagiardil

Apo-Metronidazole

Arilin

Atrivyl

BAY-5360

Bayer 5360

BAYER-5360

Bexon

Clont

Cont

Danizol

Deflamon

Deflamon-Wirkstoff

DRAZIFON

Efloran

ELYZOL

Entizol

Eumin

Flagemona

Flagesol

Flagil

Flagyl

FLAGYL 375

FLAGYL COMPAK

FLAGYL ER

Flagyl I.V.

FLAGYL I.V. RTU IN PLASTIC CONTAINER

FLAGYL-400

FLAGYL-S

Flegyl

Fossyol

Giatricol

Gineflavir

Hydrochloride, metronidazole

Klion

Klont

Meronidal

Methronidazole

Metric

METRIC 21

Metro Cream

Metro I.V.

Metro I.V. In Plastic Container

METRO IV

METROCREAM

Metrodzhil

MetroGel

Metrogel-vaginal

Metrogyl

Metrolag

METROLOTION

METROLYL

METROMIDOL

Metronidaz

Metronidazol

METRONIDAZOLE

Métronidazole

Metronidazole benzoate

Metronidazole Hcl

Metronidazole hydrochloride

Metronidazole in plastic container

Metronidazole monohydrochloride

Metronidazole phosphate

Metronidazole phosphoester

Metronidazolo

Metronidazolum

METROSA

METROTOP

Mexibol

Monagyl

Monasin

Monohydrochloride, metronidazole

Nalox

Neo-Tric

NEUTRATOP

Nida

Nidagel

Noritate

Noritic acid

NORZOL

Novonidazol

NSC-50364

NSC-69587

NUVESSA

Orvagil

Phosphate, metronidazole

Phosphoester, metronidazole

PROTOSTAT

Rathimed

ROSICED

ROZEX

RP-8823

Sanatrichom

Satric

Takimetol

Trichazol

Trichex

Tricho Cordes

Trichocide

Tricho-Gynaedron

Trichomol

Trichopal

Trichopol

Tricocet

Tricom

Tricowas B

Trikacide

Trikamon

Trikojol

Trikozol

Trimeks

Trivazol

Vagilen

Vagimid

VAGINYL

VANDAZOLE

Vertisal

Wagitran

ZADSTAT

ZIDOVAL

ZYOMET

Interventional clinical trials:

(showing 3, show less)

#	Name	Status	NCT ID	Phase	Drugs
1	A Phase 1-3, Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of Intrathecally Administered ION373 in Patients With Alexander Disease	Recruiting	NCT04849741	Phase 3	ION373;Placebo
2	Evaluation of Outcome Metrics in Alexander Disease	Recruiting	NCT02714764
3	The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network	Recruiting	NCT03047369

Search NIH Clinical Center for Alexander Disease

Cochrane evidence based reviews: alexander disease

Sources

Genetic Tests for Alexander Disease

Genetic tests related to Alexander Disease:

#	Genetic test	Affiliating Genes
1	Alexander Disease ²⁸	GFAP

Sources

Anatomical Context for Alexander Disease

Organs/tissues related to Alexander Disease:

MalaCards : Spinal Cord, Brain, Eye, Medulla Oblongata, Bone Marrow, Cortex, Cerebellum

Sources

Publications for Alexander Disease

Articles related to Alexander Disease:

(showing 572, show less)

#	Title	Authors	PMID	Year
1	The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27. ⁵³ ⁶² ²⁴ ⁵⁷ ⁵	Der Perng M...Quinlan RA	16826512	2006
2	Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. ⁵³ ⁶² ²⁴ ⁵⁷ ⁵	Stumpf E...Cossette P	12975300	2003
3	Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease. ⁵³ ⁶² ²⁴ ⁵⁷ ⁵	Namekawa M...Nakano I	12447932	2002
4	Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. ⁶² ²⁴ ⁵⁷ ⁵	Li R...Brenner M	15732097	2005
5	GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. ⁵³ ⁶² ⁵⁷ ⁵	Caroli F...Filocamo M	17894839	2007
6	Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. ⁵³ ⁶² ⁵⁷ ⁵	Rodriguez D...Boespflug-Tanguy O	11567214	2001
7	Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. ⁵³ ⁶² ⁵⁷ ⁵	Brenner M...Messing A	11138011	2001
8	Propensity for paternal inheritance of de novo mutations in Alexander disease. ⁵³ ⁶² ²⁴ ⁵⁷	Li R...Brenner M	16365765	2006
9	Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. ⁵³ ⁶² ²⁴ ⁵⁷	van der Knaap MS...Salomons GS	16505300	2006
10	Alexander-disease mutation of GFAP causes filament disorganization and decreased solubility of GFAP. ⁵³ ⁶² ²⁴ ⁵	Hsiao VC...Goldman JE	15840648	2005
11	Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene. ⁶² ⁵⁷ ⁵	Bassuk AG...Stack C	14557587	2003
12	Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene. ⁶² ⁵⁷ ⁵	Sawaishi Y...Takada G	12034796	2002
13	c.1289G>A (p.Arg430His) variant in the epsilon isoform of the GFAP gene in a patient with adult onset Alexander disease. ⁶² ²⁴ ⁵⁷	Karp N...Jenkins ME	30048824	2019
14	Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant. ⁶² ²⁴ ⁵⁷	Melchionda L...Zeviani M	23634874	2013
15	Splice site, frameshift, and chimeric GFAP mutations in Alexander disease. ⁶² ²⁴ ⁵	Flint D...Brenner M	22488673	2012
16	Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. ⁶² ²⁴ ⁵	Yoshida T...Alexander Disease Study Group in Japan	21533827	2011
17	GFAP mutations, age at onset, and clinical subtypes in Alexander disease. ⁶² ²⁴ ⁵	Prust M...Vanderver A	21917775	2011
18	A case of sporadic adult Alexander disease presenting with acute onset, remission and relapse. ⁶² ²⁴ ⁵	Ayaki T...Yamamoto T	20562394	2010
19	Unusual variants of Alexander's disease. ⁶² ²⁴ ⁵⁷	van der Knaap MS...Brenner M	15732098	2005
20	Alexander disease: diagnosis with MR imaging. ⁶² ²⁴ ⁵⁷	van der Knaap MS...Powers JM	11237983	2001
21	An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant. ⁵³ ⁶² ⁵	Dotti MT...Brenner M	19444543	2009
22	Can MR imaging diagnose adult-onset Alexander disease? ⁵³ ⁶² ⁵	Farina L...Savoiardo M	18388212	2008
23	Adult-onset Alexander disease : report on a family. ⁵³ ⁶² ⁵	Balbi P...Santoro L	18004641	2008
24	The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells. ⁵³ ⁶² ⁵	Yoshida T...Nakagawa M	17318298	2007
25	Alexander disease-associated glial fibrillary acidic protein mutations in mice induce Rosenthal fiber formation and a white matter stress response. ⁵³ ⁶² ⁵	Hagemann TL...Messing A	17065456	2006
26	A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? ⁵³ ⁶² ⁵	Brockmann K...Hanefeld F	12944715	2003
27	Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis. ⁵³ ⁶² ⁵	Shiroma N...Tsujino S	11587071	2001
28	Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients. ⁶² ⁵⁷	Mura E...Tonduti D	34865968	2021
29	Relative stabilities of wild-type and mutant glial fibrillary acidic protein in patients with Alexander disease. ⁶² ⁵	Heaven MR...Brenner M	31484723	2019
30	Mutations in GFAP Disrupt the Distribution and Function of Organelles in Human Astrocytes. ⁶² ⁵	Jones JR...Zhang SC	30355500	2018
31	A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever. ⁶² ⁵	Van Poucke M...Peelman LJ	26486469	2016
32	CSF and Blood Levels of GFAP in Alexander Disease ⁶² ⁵	Jany PL...Messing A	26478912	2015
33	Neuroimaging and clinical features in type II (late-onset) Alexander disease. ⁶² ⁵	Graff-Radford J...Kumar N	24306001	2014
34	Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease. ⁶² ⁵	Yoshida T...Nakagawa M	23903069	2013
35	Alexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis and Review of Literature; The First Report from Iran. ⁶² ⁵	Ashrafi MR...Houshmand M	24427505	2013
36	Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations. ⁶² ⁵	Zang L...Wu Y	23364391	2013
37	GFAP expression as an indicator of disease severity in mouse models of Alexander disease. ⁶² ⁵	Jany PL...Messing A	23432455	2013
38	Cerebellar ataxia as the first manifestation of Alexander's disease. ⁶² ⁵	Rezende SA...Teive HA	22510744	2012
39	Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex. ⁶² ⁵	Suzuki H...Kusunoki S	21822933	2012
40	Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients. ⁶² ⁵	Yoshida T...Nakagawa M	20849398	2011
41	Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes. ⁶² ⁵	Tian R...Goldman JE	20448479	2010
42	[Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene]. ⁶² ⁵	Sueda Y...Matsumoto M	19618846	2009
43	Suppression of GFAP toxicity by alphaB-crystallin in mouse models of Alexander disease. ⁶² ⁵⁷	Hagemann TL...Messing A	19129171	2009
44	Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. ⁶² ⁵	Pareyson D...Savoiardo M	18684770	2008
45	Novel deletion mutation in GFAP gene in an infantile form of Alexander disease. ⁵³ ⁶² ²⁴	Murakami N...Nagai T	18054694	2008
46	A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis. ⁶² ⁵	Sakakibara T...Yoshioka A	17383133	2007
47	Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances. ⁶² ⁵⁷	Sreedharan J...Samuel M	17438228	2007
48	A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis. ⁶² ⁵	Lee JM...Kim JW	17043438	2006
49	Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease. ⁶² ⁵	Kawai M...Ozono K	16168595	2006
50	Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene. ⁵³ ⁶² ²⁴	Thyagarajan D...Brenner M	15390001	2004
51	Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP. ⁵³ ⁶² ²⁴	Shiihara T...Hayasaka K	15465095	2004
52	Alexander disease: GFAP mutations unify young and old. ⁵³ ⁶² ²⁴	Messing A...Brenner M	12849260	2003
53	Alexander Disease ⁶² ⁵	Srivastava S...Naidu S	20301351	2002
54	GFAP mutations in Alexander disease. ⁵³ ⁶² ²⁴	Li R...Brenner M	12175861	2002
55	Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. ⁶² ⁵⁷	Gorospe JR...Hoffman EP	12034785	2002
56	Autosomal dominant palatal myoclonus and spinal cord atrophy. ⁵³ ⁶² ²⁴	Okamoto Y...Nakagawa M	11867077	2002
57	Alexander disease: new insights from genetics. ⁵³ ⁶² ²⁴	Messing A...Brenner M	11398833	2001
58	Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. ⁶² ⁵⁷	Schwankhaus JD...Currier RD	8848205	1995
59	Alpha B-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain. ⁶² ⁵⁷	Iwaki T...Goldman JE	2539261	1989
60	Light and electron microscopic observations on Rosenthal fibers in Alexander's disease and in multiple sclerosis. ⁶² ⁵⁷	Herndon RM...Mathieson G	5471920	1970
61	Dysmyelinogenic leukodystrophy; report of a case of a new, presumably familial type of leukodystrophy with megalobarencephaly. ⁶² ⁵⁷	WOHLWILL FJ...YAKOVLEV PI	13665382	1959
62	Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. ⁶² ²⁴	Helman G...Simons C	32126152	2020
63	Characteristics of cerebral lesions in adult-onset Alexander disease. ⁶² ²⁴	Yoshida T...Mizuno T	31422506	2020
64	Crystal structure of the human glial fibrillary acidic protein 1B domain. ⁶² ²⁴	Kim B...Jin MS	30126635	2018
65	Alexander disease: an astrocytopathy that produces a leukodystrophy. ⁶² ²⁴	Sosunov A...Goldman JE	29740945	2018
66	Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease. ⁶² ²⁴	Green L...Livingston JH	29253910	2018
67	Alexander disease. ⁶² ²⁴	Messing A	29478608	2018
68	Antisense suppression of glial fibrillary acidic protein as a treatment for Alexander disease. ⁶² ²⁴	Hagemann TL...Messing A	29226998	2018
69	Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature. ⁶² ²⁴	Spritzer SD...Goodman BP	23925719	2013
70	Acute onset of adult Alexander disease. ⁶² ²⁴	Schmidt H...Brockmann K	23706596	2013
71	Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement. ⁶² ²⁴	Wada Y...Namekawa M	23743246	2013
72	A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy. ⁶² ²⁴	Namekawa M...Nakano I	22198646	2012
73	Archetypal and new families with Alexander disease and novel mutations in GFAP. ⁶² ²⁴	Messing A...Brenner M	21987397	2012
74	Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction. ⁶² ²⁴	Gorospe JR...Maletkovic J	16807904	2006
75	GFAP: functional implications gleaned from studies of genetically engineered mice. ⁶² ²⁴	Messing A...Brenner M	12761871	2003
76	Alexander disease. ⁶² ²⁴	Gordon N	14623218	2003
77	Alexander disease--classification revisited and isolation of a neonatal form. ⁶² ²⁴	Springer S...Krageloh-Mann I	10832583	2000
78	Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset Alexander disease. ⁶² ²⁴	Martidis A...Biller J	10037578	1999
79	A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation. ⁵⁷	Howard RS...Harding AE	8410038	1993
80	Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. ⁵⁷	ALEXANDER WS	15409268	1949
81	The cysteine residue of glial fibrillary acidic protein is a critical target for lipoxidation and required for efficient network organization. ²⁴	Viedma-Poyatos A...Perez-Sala D	29635011	2018
82	Clinical and genetic characterization of leukoencephalopathies in adults. ²⁴	Lynch DS...Houlden H	28334938	2017
83	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. ²⁴	Richards S...ACMG Laboratory Quality Assurance Committee	25741868	2015
84	Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy. ²⁴	de Beer M...van Geel BM	25378668	2014
85	Oligomers of mutant glial fibrillary acidic protein (GFAP) Inhibit the proteasome system in alexander disease astrocytes, and the small heat shock protein alphaB-crystallin reverses the inhibition. ⁵³ ⁶²	Tang G...Goldman JE	20110364	2010
86	Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature. ⁵³ ⁶²	Namekawa M...Nakano I	20359319	2010
87	Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl. ⁵³ ⁶²	Niinikoski H...Blaser S	19418047	2009
88	Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia. ⁵³ ⁶²	Kaneko H...Ikeuchi T	19412928	2009
89	Dual transgenic reporter mice as a tool for monitoring expression of glial fibrillary acidic protein. ⁵³ ⁶²	Cho W...Messing A	19457099	2009
90	The process of inducing GFAP aggregates in astrocytoma-derived cells is different between R239C and R416W mutant GFAP. A time-lapse recording study. ⁵³ ⁶²	Yoshida T...Nakagawa M	19379794	2009
91	Properties of astrocytes cultured from GFAP over-expressing and GFAP mutant mice. ⁵³ ⁶²	Cho W...Messing A	19146851	2009
92	GFAP aggregates in the cochlear nerve increase the noise vulnerability of sensory cells in the organ of Corti in the murine model of Alexander disease. ⁵³ ⁶²	Masuda M...Ogawa K	18602179	2008
93	Adaptive autophagy in Alexander disease-affected astrocytes. ⁵³ ⁶²	Tang G...Goldman JE	18414043	2008
94	Autophagy induced by Alexander disease-mutant GFAP accumulation is regulated by p38/MAPK and mTOR signaling pathways. ⁵³ ⁶²	Tang G...Goldman JE	18276609	2008
95	Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease. ⁵³ ⁶²	Bachetti T...Ceccherini I	18197187	2008
96	Clinical and genetic study in Chinese patients with Alexander disease. ⁵³ ⁶²	Ye Wu...Yuwu Jiang	18079314	2008
97	Adult-onset Alexander disease with progressive ataxia and palatal tremor. ⁵³ ⁶²	Howard KL...Brenner M	17960815	2008
98	Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene. ⁵³ ⁶²	Hinttala R...Remes AM	17805552	2007
99	Acute onset of fatal vegetative symptoms: unusual presentation of adult Alexander disease. ⁵³ ⁶²	Huttner HB...Bardutzky J	17956445	2007
100	An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein. ⁵³ ⁶²	Ohnari K...Nakagawa M	17934883	2007
101	A novel mutation in the GFAP gene in a familial adult onset Alexander disease. ⁵³ ⁶²	Salmaggi A...Boiardi A	17703343	2007
102	Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease. ⁵³ ⁶²	Mignot C...Pham-Dinh D	17604020	2007
103	[Generation of mice with glial cell dysfunction]. ⁵³ ⁶²	Tanaka K...Ikenaka K	17663146	2007
104	GFAP and its role in Alexander disease. ⁵³ ⁶²	Quinlan RA...Messing A	17498694	2007
105	Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease. ⁵³ ⁶²	Hartmann H...Meins M	17985264	2007
106	[Juvenile form of Alexander's disease - a case confirmed by detection of mutation in GFAP gene]. ⁵³ ⁶²	Kmiec T...Jozwiak S	17629821	2007
107	Murine model of Alexander disease: analysis of GFAP aggregate formation and its pathological significance. ⁵³ ⁶²	Tanaka KF...Ikenaka K	17299771	2007
108	Synergistic effects of the SAPK/JNK and the proteasome pathway on glial fibrillary acidic protein (GFAP) accumulation in Alexander disease. ⁵³ ⁶²	Tang G...Goldman JE	17038307	2006
109	TRH therapy in a patient with juvenile Alexander disease. ⁵³ ⁶²	Ishigaki K...Osawa M	16774812	2006
110	An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP. ⁵³ ⁶²	Asahina N...Saitoh S	16168593	2006
111	Plectin regulates the organization of glial fibrillary acidic protein in Alexander disease. ⁵³ ⁶²	Tian R...Goldman JE	16507904	2006
112	Mutations in vimentin disrupt the cytoskeleton in fibroblasts and delay execution of apoptosis. ⁵³ ⁶²	Schietke R...Magin TM	16373170	2006
113	Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease. ⁵³ ⁶²	Kyllerman M...Holmberg E	16217707	2005
114	Gene expression analysis in mice with elevated glial fibrillary acidic protein and Rosenthal fibers reveals a stress response followed by glial activation and neuronal dysfunction. ⁵³ ⁶²	Hagemann TL...Messing A	16014634	2005
115	[Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease]. ⁵³ ⁶²	Ma HW...Tsujino S	15696488	2005
116	[A case of long-term survival of a patient with infantile Alexander disease diagnosed by DNA analysis]. ⁵³ ⁶²	Wakabayashi K...Tsujino S	15675360	2005
117	Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality. ⁵³ ⁶²	Nobuhara Y...Nakagawa M	15477559	2004
118	Progressive ataxia and palatal tremor (PAPT): clinical and MRI assessment with review of palatal tremors. ⁵³ ⁶²	Samuel M...Lang AE	15090471	2004
119	Alexander disease: a leukodystrophy caused by a mutation in GFAP. ⁵³ ⁶²	Johnson AB	15139294	2004
120	A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P. ⁵³ ⁶²	Suzuki Y...Tsujino S	15030911	2004
121	A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation. ⁵³ ⁶²	Kinoshita T...Nakagawa M	14550921	2003
122	Structural and functional characterization of the zebrafish gene for glial fibrillary acidic protein, GFAP. ⁵³ ⁶²	Nielsen AL...Jorgensen AL	12801639	2003
123	Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. ⁵³ ⁶²	Shiroma N...Tsujino S	12581808	2003
124	Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients. ⁵³ ⁶²	Meins M...Hanefeld F	12368989	2002
125	A new splice variant of glial fibrillary acidic protein, GFAP epsilon, interacts with the presenilin proteins. ⁵³ ⁶²	Nielsen AL...Jorgensen AL	12058025	2002
126	Mutations associated with a childhood leukodystrophy, Alexander disease, cause deficiency in dimerization of the cytoskeletal protein GFAP. ⁵³ ⁶²	Nielsen AL...Jorgensen AL	12696672	2002
127	A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease. ⁵³ ⁶²	Aoki Y...Matsubara Y	11595337	2001
128	Glial fibrillary acidic protein: GFAP-thirty-one years (1969-2000). ²⁴	Eng LF...Lee YL	11059815	2000
129	Small heat shock proteins, the cytoskeleton, and inclusion body formation. ⁵³ ⁶²	Head MW...Goldman JE	10931363	2000
130	Astrocytes cultured from transgenic mice carrying the added human glial fibrillary acidic protein gene contain Rosenthal fibers. ⁵³ ⁶²	Eng LF...Messing A	9698163	1998
131	Alpha B-crystallin is associated with intermediate filaments in astrocytoma cells. ⁵³ ⁶²	Wisniewski T...Goldman JE	9482251	1998
132	Adolescent case of Alexander disease: MR imaging and MR spectroscopy. ⁵³ ⁶²	Takanashi J...Niimi H	9492095	1998
133	Semiquantitative postembedding characterization of intermediate filaments in central nervous system lesions using immunoelectron microscopy. ⁵³ ⁶²	Geiger DH...Rutherfoord GS	9044656	1995
134	Cytokines and growth factors induce HSP27 phosphorylation in human astrocytes. ⁵³ ⁶²	Satoh J...Kim SU	7541446	1995
135	Overexpression and abnormal modification of the stress proteins alpha B-crystallin and HSP27 in Alexander disease. ⁵³ ⁶²	Head MW...Goldman JE	8256860	1993
136	Alpha B-crystallin and 27-kd heat shock protein are regulated by stress conditions in the central nervous system and accumulate in Rosenthal fibers. ⁵³ ⁶²	Iwaki T...Goldman JE	8393618	1993
137	Accumulation of alpha B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5'-flanking and coding sequence of the genomic DNA. ⁵³ ⁶²	Iwaki A...Sakaki Y	1407707	1992
138	Phosphorylation of alpha-crystallin B in Alexander's disease brain. ⁵³ ⁶²	Mann E...Spector A	1743282	1991
139	Rosenthal fibers contain ubiquitinated alpha B-crystallin. ⁵³ ⁶²	Goldman JE...Corbin E	1656764	1991
140	Increment of alpha B-crystallin mRNA in the brain of patient with infantile type Alexander's disease. ⁵³ ⁶²	Ochi N...Kato K	1898384	1991
141	Rosenthal fibers share epitopes with alpha B-crystallin, glial fibrillary acidic protein, and ubiquitin, but not with vimentin. Immunoelectron microscopy with colloidal gold. ⁵³ ⁶²	Tomokane N...Goldman JE	1707236	1991
142	Early recognition of patients with leukodystrophies. ⁶²	Modesti NB...Gavazzi F	36470810	2022
143	Correction to: Novel Glial Fibrillary Acidic Protein Variant in a Probable Adult-Onset Alexander Disease. ⁶²	Mork E...Lee JM	35512390	2022
144	Pathologic Alexander Disease with Normal GFAP Sequencing: An Autopsy Case Report and Literature Review. ⁶²	Alexander AL...Donahue JE	36137250	2022
145	Aetiologies of acquired pediatric sixth nerve palsies in a U.K. based population. ⁶²	Evans MJ...Self JE	36373618	2022
146	Coenzyme Q10: Role in Less Common Age-Related Disorders. ⁶²	Mantle D...Hargreaves IP	36421479	2022
147	Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing. ⁶²	Heshmatzad K...Kalayinia S	36088400	2022
148	Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. ⁶²	Helman G...Simons C	35920398	2022
149	Aperiodic alternating nystagmus in adult-onset Alexander disease with a novel mutation. ⁶²	Kim MH...Lee SJ	36153801	2022
150	Identification of association fibers using ex vivo diffusion tractography in Alexander disease brains. ⁶²	Shiohama T...Takahashi E	35983725	2022
151	Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology. ⁶²	Chang KJ...Kao CL	36077104	2022
152	Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report. ⁶²	Zardadi S...Tavasoli AR	35831840	2022
153	Alexander disease GFAP R239C mutant shows increased susceptibility to lipoxidation and elicits mitochondrial dysfunction and oxidative stress. ⁶²	Viedma-Poyatos A...Perez-Sala D	35933901	2022
154	Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments. ⁶²	Yang AW...Perng MD	35511821	2022
155	A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes. ⁶²	Kang YR...Nam TS	35246666	2022
156	Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene. ⁶²	Goerttler T...Klebe S	35620133	2022
157	Juvenile Alexander Disease: A Rare Leukodystrophy. ⁶²	Ullah R...Arshad A	35698668	2022
158	Novel Glial Fibrillary Acidic Protein Variant in a Probable Adult-Onset Alexander Disease. ⁶²	Mork E...Lee JM	35363250	2022
159	Anastasis Drives Senescence and Non-Cell Autonomous Neurodegeneration in the Astrogliopathy Alexander Disease. ⁶²	Wang L...Feany MB	35105675	2022
160	GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease. ⁶²	Takeuchi H...Fukasawa N	35003479	2022
161	Psychiatric Onset Alexander Disease: An Important Challenge in Neuropsychiatric Diagnosis: A Case Report. ⁶²	Arshiany H...Mohammadian F	36425948	2022
162	Isolated Myoclonus of the Vocal Folds in Alexander Disease. ⁶²	Fan S...Guan H	34928305	2022
163	Alexander disease: models, mechanisms, and medicine. ⁶²	Hagemann TL	34826654	2022
164	Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments. ⁶²	Murtinheira F...Herrera F	35053415	2022
165	Palato-Lingual Tremor in a Child With Juvenile-Onset Alexander Disease. ⁶²	Almudhry M...Mir A	34678550	2022
166	Metabolic Enzyme Alterations and Astrocyte Dysfunction in a Murine Model of Alexander Disease With Severe Reactive Gliosis. ⁶²	Heaven MR...Olsen ML	34808356	2022
167	Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases. ⁶²	Holm A...Kauppinen S	35482908	2022
168	Type II Alexander disease with fragile X mental retardation 1 gene mutation. ⁶²	Xu SY...Li CX	34800814	2021
169	Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease. ⁶²	Amano E...Yokota T	34611548	2021
170	Abnormal Ca2+ Signals in Reactive Astrocytes as a Common Cause of Brain Diseases. ⁶²	Koizumi S...Nabekura J	35008573	2021
171	Antisense therapy in a rat model of Alexander disease reverses GFAP pathology, white matter deficits, and motor impairment. ⁶²	Hagemann TL...Messing A	34788075	2021
172	Teaching NeuroImage: Dorsal Medullary Lesions in Juvenile-Onset Alexander Disease. ⁶²	Sollee J...Waldman A	34158385	2021
173	Clinical and radiological characteristics of older-adult-onset Alexander disease. ⁶²	Yoshida T...Mizuno T	34245630	2021
174	Visualizing the phenotype diversity: a case study of Alexander disease. ⁶²	Dohi E...Bangash AH	34638175	2021
175	Potential of Multiscale Astrocyte Imaging for Revealing Mechanisms Underlying Neurodevelopmental Disorders. ⁶²	Kumamoto T...Tsurugizawa T	34638653	2021
176	Area Postrema Syndrome as the Initial Presentation of Alexander Disease. ⁶²	Renaldo F...Rodriguez D	34233935	2021
177	A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease. ⁶²	Song X...Cao L	34109421	2021
178	GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant. ⁶²	Heshmatzad K...Rabbani B	34146839	2021
179	Does genetic anticipation occur in familial Alexander disease? ⁶²	Hunt CK...Sreedharan J	34046764	2021
180	Elevated GFAP isoform expression promotes protein aggregation and compromises astrocyte function. ⁶²	Lin NH...Perng MD	33908669	2021
181	A Case Report of Adult-Onset Alexander Disease with a Tumor-Like Lesion in the Lateral Ventricle. ⁶²	Cai T...Wu J	34248569	2021
182	Pearls & Oy-sters: Adult-Onset Alexander Disease With Transient Swelling of the Medulla Oblongata. ⁶²	Oshima Y...Yabe I	34039724	2021
183	Adult-onset Alexander disease mimicking multiple system atrophy predominant cerebellar ataxia. ⁶²	Watanabe Y...Suzuki K	33863523	2021
184	Pexidartinib treatment in Alexander disease model mice reduces macrophage numbers and increases glial fibrillary acidic protein levels, yet has minimal impact on other disease phenotypes. ⁶²	Boyd MM...Collier LS	33685480	2021
185	Teaching NeuroImages: Neuroimaging in Adult-Onset Alexander Disease. ⁶²	Gopal N...Sandhu SJS	32917798	2021
186	Ketogenic Diet Therapy for Intractable Epilepsy in Infantile Alexander Disease: A Small Case Series and Analyses of Astroglial Chemokines and Proinflammatory Cytokines. ⁶²	Hamada S...Sakakibara T	33395615	2021
187	[Alexander disease: diversity of cell population and interactions between neuron and glia]. ⁶²	Saito K...Koizumi S	34193704	2021
188	A case of adult onset of Alexander disease with nocturnal painless burns, autonomic dysfunction, and peripheral nerve impairment. ⁶²	Sun Y...Huang Y	33160717	2021
189	Alexander Disease. ⁶²	Hartog L...Bossche SV	34723085	2021
190	Neuropsychological Functioning in Alexander Disease: A Case Series. ⁶²	Kirsch AC...Zaccariello MJ	34692893	2021
191	Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's Disease. ⁶²	Bachetti T...Sechi G	34950024	2021
192	Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation. ⁶²	Grossi A...Ceccherini I	34950187	2021
193	Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging. ⁶²	Zhang T...Zhao Y	34012265	2021
194	Principles of Astrogliopathology. ⁶²	Verkhratsky A...Parpura V	34888830	2021
195	Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening. ⁶²	Candiani S...Bachetti T	33322348	2020
196	Long-term survival of a dog with Alexander disease. ⁶²	Kobatake Y...Kamishina H	33055453	2020
197	Blended phenotype of adult-onset Alexander disease and spinocerebellar ataxia type 6. ⁶²	Odo T...Takahashi Y	33134518	2020
198	Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms. ⁶²	Gowda VK...Prasad C	32144715	2020
199	[A case of Alexander disease presented with dystonia of lower limb and decreased dopaminergic uptake in dopamine transporter scintigraphy]. ⁶²	Hayano E...Mochizuki H	32893243	2020
200	Clinical characteristics of Alexander disease. ⁶²	Yoshida T	32847470	2020
201	[Clinical characteristics and diagnostic criteria on Alexander disease]. ⁶²	Yoshida T	32779598	2020
202	NG2 and GFAP co-expression after differentiation in cells transfected with mutant GFAP and in undifferentiated glioma cells. ⁶²	Gomez-Pinedo U...Matias-Guiu J	29249301	2020
203	Recessively-Inherited Adult-Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene. ⁶²	Fu MH...Lan MY	32374915	2020
204	Epilepsy in children with leukodystrophies. ⁶²	Zhang J...Wu Y	32388833	2020
205	Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years. ⁶²	Tsuji M...Iai M	32143223	2020
206	Novel GFAP p. Glu206Ala Mutation in Alexander Disease with Decreased Dopamine Transporter Uptake. ⁶²	Ogawa T...Okuma Y	32775528	2020
207	Parkinsonism phenotype in a family with adult onset Alexander disease and a novel mutation of GFAP. ⁶²	Vazquez-Justes D...Gonzalez-Mingot C	32417628	2020
208	Effects of curcumin on neurological diseases: focus on astrocytes. ⁶²	Eghbaliferiz S...Sahebkar A	32458309	2020
209	All in Your Mind? New-Onset Dysphagia in a Previously Healthy Adolescent Child. ⁶²	Sequeira J...Marinello M	32351769	2020
210	What Can Mimic Multiple Sclerosis? ⁶²	Jewells VL...Latchaw RE	32448485	2020
211	Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions. ⁶²	Gilani A...Kleinschmidt-DeMasters BK	31542992	2020
212	Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature. ⁶²	Benzoni C...Salsano E	32223977	2020
213	Neuroprotective effects of curcumin through autophagy modulation. ⁶²	Forouzanfar F...Sahebkar A	31804772	2020
214	[A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling]. ⁶²	Matsuyama Y...Yoshida T	31956193	2020
215	Autophagy in Myelinating Glia. ⁶²	Belgrad J...Fields RD	31744863	2020
216	Inflammatory neuropathology of infantile Alexander disease: A case report. ⁶²	Kora K...Yoshida T	31455510	2020
217	Oculopalatal tremor following sequential medullary infarcts that did not cause hypertrophic olivary degeneration. ⁶²	Kattah JC...Shaikh AG	32082592	2020
218	Teaching Video NeuroImages: Palatal myoclonus in leukodystrophies: A clinical sign orienting to Alexander disease. ⁶²	Martinez-Poles J...Jimenez-Escrig A	31932408	2020
219	[Alexander disease as an explanation for long-term unexplained psychiatric symptoms in a young girl]. ⁶²	Oude Ophuis SBJ...Schothorst PF	32910452	2020
220	Astrocyte-Oligodendrocyte-Microglia Crosstalk in Astrocytopathies. ⁶²	de Waard DM...Bugiani M	33328899	2020
221	A case report of adult-onset Alexander disease clinically presenting as Parkinson's disease: is the comorbidity associated with genetic susceptibility? ⁶²	Park J...Kwon KY	31952467	2020
222	An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. ⁶²	Ashrafi MR...Tavasoli AR	31829048	2020
223	Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia. ⁶²	Paprocka J...Morava E	31942421	2019
224	A novel mutation in the GFAP gene expands the phenotype of Alexander disease. ⁶²	Casasnovas C...Pujol A	31004048	2019
225	Refining the concept of GFAP toxicity in Alexander disease. ⁶²	Messing A	31838996	2019
226	Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity. ⁶²	Battaglia RA...Snider NT	31682229	2019
227	Towards genomic database of Alexander disease to identify variations modifying disease phenotype. ⁶²	Yasuda R...Mizuno T	31611638	2019
228	Botox Injection for Laryngeal Dysfunction in Alexander Disease. ⁶²	Rutt A...Karatayli Ozgursoy S	30017431	2019
229	Tadpole Brain Atrophy in Adult-Onset Alexander Disease. ⁶²	Gafoor VA...Smita B	31744992	2019
230	Adult-onset Alexander disease with a heterozygous D128N GFAP mutation: a pathological study. ⁶²	Cabrera-Galvan JJ...Travieso-Aja MDM	30942895	2019
231	Degenerative inferior olivary nucleus and medullary tegmentum produced the characteristic magnetic resonance imaging signs in Alexander disease: A case report. ⁶²	Maeda K...Yoshida M	31299543	2019
232	Glial fibrillary acidic protein expression alters astrocytic chemokine release and protects mice from cuprizone-induced demyelination. ⁶²	Kramann N...Bruck W	30801815	2019
233	Neuropsychological features of adult form of Alexander disease. ⁶²	Draghi L...Piacentini SHMJ	31039531	2019
234	A Case of Juvenile Alexander Disease Presenting as Microcephaly. ⁶²	Gowda VK...Bhat MD	30628038	2019
235	Aggregate formation analysis of GFAPR416W found in one case of Alexander disease. ⁶²	Tulyeu J...Osaka H	30213442	2019
236	AP-1 and the injury response of the GFAP gene. ⁶²	Brenner M...Olsen ML	30345544	2019
237	General Pathophysiology of Astroglia. ⁶²	Verkhratsky A...Parpura V	31583588	2019
238	A Novel Mutation in the Adult-Onset Alexander's Disease GFAP Gene. ⁶²	Zaver DB...Douthit NT	30755773	2019
239	Mitochondria Are Dynamically Transferring Between Human Neural Cells and Alexander Disease-Associated GFAP Mutations Impair the Astrocytic Transfer. ⁶²	Gao L...Pei G	31327963	2019
240	Astroglia in Leukodystrophies. ⁶²	Jorge MS...Bugiani M	31583590	2019
241	A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease. ⁶²	Ciammola A...Silani V	31781017	2019
242	An unusual GFAP mutation in a Taiwanese child with infantile Alexander disease. ⁶²	Liang JS...Lu JF	29339051	2018
243	GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease. ⁶²	Pinto E Vairo F...Gavrilova RH	30355306	2018
244	Myelin changes in Alexander disease. ⁶²	Gomez-Pinedo U...Matias-Guiu J	28342553	2018
245	An unusual presentation of late-onset Alexander's disease with slow orthostatic tremor and a novel GFAP variant. ⁶²	Stitt DW...Hassan A	30755139	2018
246	Small heat shock protein speciation: novel non-canonical 44 kDa HspB5-related protein species in rat and human tissues. ⁶²	Benndorf R...Welsh MJ	29542021	2018
247	Reduced cerebrospinal fluid monoamines in Alexander's disease: a clue to a symptomatic therapy. ⁶²	Casarejos MJ...Jimenez-Escrig A	30134051	2018
248	A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP. ⁶²	Matsumoto A...Osaka H	29573842	2018
249	Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. ⁶²	Machol K...Dhar SU	30046660	2018
250	GFAP Mutations in Astrocytes Impair Oligodendrocyte Progenitor Proliferation and Myelination in an hiPSC Model of Alexander Disease. ⁶²	Li L...Shi Y	30075130	2018
251	Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases. ⁶²	Knuutinen O...Vieira P	29801191	2018
252	Teaching NeuroImages: Alexander disease with features of both frontal and bulbospinal involvement. ⁶²	Nam TS...Kim MK	30037922	2018
253	Aberrant astrocyte Ca2+ signals "AxCa signals" exacerbate pathological alterations in an Alexander disease model. ⁶²	Saito K...Koizumi S	29383757	2018
254	Tissue and cellular rigidity and mechanosensitive signaling activation in Alexander disease. ⁶²	Wang L...Feany MB	29765022	2018
255	Astrocytes, an active player in Aicardi-Goutières syndrome. ⁶²	Sase S...Almad A	29740948	2018
256	The small heat shock proteins, especially HspB4 and HspB5 are promising protectants in neurodegenerative diseases. ⁶²	Zhu Z...Reiser G	29425965	2018
257	Neuroimaging in Juvenile Alexander Disease: Tumour-like Brainstem Lesions. ⁶²	Tan AP...Mankad K	29911736	2018
258	Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesis. ⁶²	Brackmann F...Trollmann R	29191363	2018
259	Alexander's disease and the story of Louise. ⁶²	Wilson BA...Florschutz G	27580295	2018
260	[A case of Alexander disease with dropped head syndrome]. ⁶²	Maeda K...Kobayashi Y	29491332	2018
261	Ataxia and autonomic dysfunction as presenting symptoms in late-onset Alexander disease. ⁶²	Jost M...Klebe S	29431177	2017
262	Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor. ⁶²	Gass JM...Atwal PS	29095329	2017
263	A Novel GFAP Mutation in Late-Onset Alexander Disease Showing Diffusion Restriction. ⁶²	Nam TS...Kim MK	29057636	2017
264	Neurobehavioral characterization of adult-onset Alexander disease: A family study. ⁶²	Lichtenstein ML...Feldman HH	29620072	2017
265	Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model. ⁶²	Lee SH...Choi SY	28882119	2017
266	Long-term follow-up of a case of adult-onset Alexander disease presenting with cognitive impairment as the initial symptom. ⁶²	Kawai Y...Ieda T	28681773	2017
267	Considering Spastic Paraplegia Type 7 and Adult-Onset Alexander Disease. ⁶²	Ramirez-Zamora A...Okun MS	28459923	2017
268	Considering Spastic Paraplegia Type 7 and Adult-Onset Alexander Disease-Reply. ⁶²	Remster E...Dubey D	28459933	2017
269	[Follow-up and genetic study of 43 Chinese children with type Ⅰ Alexander disease]. ⁶²	Ban TT...Jiang YW	28728258	2017
270	Infantile Alexander Disease: Case Report and Review of Literature. ⁶²	Sarkar S...Bhowmik B	28764307	2017
271	Central hypothermia associated with Alexander disease. A case report. ⁶²	Hayashi Y...Inuzuka T	28384596	2017
272	Glial fibrillary acidic protein exhibits altered turnover kinetics in a mouse model of Alexander disease. ⁶²	Moody LR...Messing A	28223355	2017
273	Respiratory difficulty with palatal, laryngeal and respiratory muscle tremor in adult-onset Alexander's disease. ⁶²	McAuley J...Chawda S	28438749	2017
274	The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease. ⁶²	Sosunov AA...Goldman JE	28359321	2017
275	Alexander Disease. ⁶²	Tavasoli A...Vanderver A	28112050	2017
276	Hypertrophic Olivary Degeneration and Palatal or Oculopalatal Tremor. ⁶²	Tilikete C...Desestret V	28706504	2017
277	Characterization of a panel of monoclonal antibodies recognizing specific epitopes on GFAP. ⁶²	Lin NH...Perng MD	28700643	2017
278	Alexander Disease Mutations Produce Cells with Coexpression of Glial Fibrillary Acidic Protein and NG2 in Neurosphere Cultures and Inhibit Differentiation into Mature Oligodendrocytes. ⁶²	Gomez-Pinedo U...Matias-Guiu J	28634469	2017
279	Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report. ⁶²	Ashrafi F...Behnam B	28286850	2017
280	Quantitative Evaluation of Brain Stem Atrophy Using Magnetic Resonance Imaging in Adult Patients with Alexander Disease. ⁶²	Yoshida T...JAPAN Alexander Disease Study Group	28448978	2017
281	Astrocyte-mediated infantile-onset leukoencephalopathy mouse model. ⁶²	Sugio S...Tanaka KF	27748972	2017
282	A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease. ⁶²	Yasuda R...Mizuno T	28690862	2017
283	Disorders of Astrocytes: Alexander Disease as a Model. ⁶²	Olabarria M...Goldman JE	28135564	2017
284	The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP. ⁶²	Lin NH...Perng MD	27798231	2016
285	Atypical MRI features in familial adult onset Alexander disease: case report. ⁶²	Liu Y...Zhang X	27814755	2016
286	MRI diagnosis of infantile Alexander disease in a 14 month old African boy. ⁶²	Dlamini N...du Plessis V	28580052	2016
287	Interactions of GFAP with ceftriaxone and phenytoin: SRCD and molecular docking and dynamic simulation. ⁶²	Ruzza P...Siligardi G	27133445	2016
288	Isolated macrocerebellum: description of six cases and literature review. ⁶²	D'Arco F...D'Amico A	27942468	2016
289	The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies. ⁶²	Wang X...Peng J	27779215	2016
290	Translational potential of astrocytes in brain disorders. ⁶²	Verkhratsky A...Montana V	26386136	2016
291	Erratum to: Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes. ⁶²	Kondo T...Inoue H	27638001	2016
292	Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic. ⁶²	Boczek NJ...Klee EW	27648269	2016
293	Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes. ⁶²	Kondo T...Inoue H	27402089	2016
294	Composition of Rosenthal Fibers, the Protein Aggregate Hallmark of Alexander Disease. ⁶²	Heaven MR...Brenner M	27193225	2016
295	Small-Molecule-Based Lineage Reprogramming Creates Functional Astrocytes. ⁶²	Tian E...Shi Y	27396343	2016
296	Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease. ⁶²	Tonduti D...Moroni I	26743065	2016
297	Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases. ⁶²	Elmali AD...Yalcinkaya C	28360791	2016
298	Teaching Video NeuroImages: Palatal tremor in adult-onset Alexander disease. ⁶²	Sebesto JR...van Gerpen JA	27298457	2016
299	Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua. ⁶²	Bonthius DJ...Karacay B	26719496	2016
300	Mapping of protein-protein interaction network of Alexander disease. ⁶²	Saxena AK...Dixit S	27262796	2016
301	[An atypical presentation of Infantile Alexander disease lacking macrocephaly]. ⁶²	Esmer C...Bravo-Oro A	29421207	2016
302	Familial Adult-Onset Alexander Disease with a Novel GFAP Mutation. ⁶²	Ogura H...Hasegawa Y	30363563	2016
303	Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution. ⁶²	Mierzewska H...Szczepanik E	27442695	2016
304	A novel GFAP mutation in a type II (late-onset) Alexander disease patient. ⁶²	de Paiva AR...Kok F	26914930	2016
305	Astrocytes: a central element in neurological diseases. ⁶²	Pekny M...Verkhratsky A	26671410	2016
306	An In Vivo Pharmacological Screen Identifies Cholinergic Signaling as a Therapeutic Target in Glial-Based Nervous System Disease. ⁶²	Wang L...Feany MB	26843629	2016
307	Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene. ⁶²	Di Giovanni M...Federico A	26396075	2016
308	Astrogliopathology in neurological, neurodevelopmental and psychiatric disorders. ⁶²	Verkhratsky A...Parpura V	25843667	2016
309	Astrocyte Differentiation of Human Pluripotent Stem Cells: New Tools for Neurological Disorder Research. ⁶²	Chandrasekaran A...Dinnyes A	27725795	2016
310	INFANTILE ALEXANDER'S DISEASE: A CASE WITH CHARACTERISTIC MRI FEATURES. ⁶²	Mazhar N...Saeed U	27323590	2016
311	Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report. ⁶²	Schulz A...Redecker C	28035283	2016
312	[An infant form of Alexander disease (a clinical case and literature review)]. ⁶²	Vasin RA...Vasina SV	28139579	2016
313	Elevated GFAP induces astrocyte dysfunction in caudal brain regions: A potential mechanism for hindbrain involved symptoms in type II Alexander disease. ⁶²	Minkel HR...Olsen ML	26190408	2015
314	Nitric oxide mediates glial-induced neurodegeneration in Alexander disease. ⁶²	Wang L...Feany MB	26608817	2015
315	Astrocyte pathology in Alexander disease causes a marked inflammatory environment. ⁶²	Olabarria M...Goldman JE	26296699	2015
316	Prominent cognitive decline and behavioural disturbance in late-onset Alexander disease. ⁶²	Garcia-Reitboeck P...Omer S	26285664	2015
317	Adult-onset Alexander's disease mimicking degenerative disease. ⁶²	Ahmad O...Rowe DB	26023202	2015
318	Type II (adult onset) Alexander disease in a paraplegic male with a rare D128N mutation in the GFAP gene. ⁶²	Chang KE...Ray-Chaudhury A	25997626	2015
319	Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients. ⁶²	Ferreira MC...Boespflug Tanguy O	26208460	2015
320	Lack of CUL4B leads to increased abundance of GFAP-positive cells that is mediated by PTGDS in mouse brain. ⁶²	Zhao W...Gong Y	26025376	2015
321	Incidental diagnosis of an asymptomatic adult-onset Alexander disease by brain magnetic resonance imaging for preoperative evaluation. ⁶²	Sugiyama A...Kuwabara S	25982497	2015
322	An autopsied case of adult-onset bulbospinalform Alexander disease with a novel S393R mutation in the GFAP gene. ⁶²	Iwasaki Y...Yoshida M	25828773	2015
323	Characteristic abnormal signals in medulla oblongata-"eye spot" sign: Four cases of elderly-onset Alexander disease. ⁶²	Yoshida T...Mizuno T	29443213	2015
324	Glial fibrillary acidic protein: from intermediate filament assembly and gliosis to neurobiomarker. ⁶²	Yang Z...Wang KK	25975510	2015
325	Alexander disease in a dog: case presentation of electrodiagnostic, magnetic resonance imaging and histopathologic findings with review of literature. ⁶²	Wrzosek M...Vandevelde M	25985984	2015
326	Intracellular fibril formation, calcification, and enrichment of chaperones, cytoskeletal, and intermediate filament proteins in the adult hippocampus CA1 following neonatal exposure to the nonprotein amino acid BMAA. ⁶²	Karlsson O...Brittebo EB	24798087	2015
327	[Glial fibrillary acidic protein: the component of intermediate filaments in the vertebrate brain astrocytes]. ⁶²	Sukhorukova EG...Alekseeva OS	25859599	2015
328	Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease. ⁶²	Nam TS...Kim MK	24755947	2015
329	A new mutation in GFAP widens the spectrum of Alexander disease. ⁶²	Brenner M...Messing A	24961628	2015
330	Lithium Decreases Glial Fibrillary Acidic Protein in a Mouse Model of Alexander Disease. ⁶²	LaPash Daniels CM...Messing A	26378915	2015
331	Adult-onset Alexander disease: could facial myokymia be a symptom? ⁶²	Scola RH...Werneck LC	25410460	2014
332	Infantile onset alexander disease with normal head circumference: a genetically proven case report. ⁶²	Goyal M...Kapoor S	25584279	2014
333	Teaching neuroImages: late-onset Alexander disease. ⁶²	Lee KJ...Lee ST	25422405	2014
334	Histone acetylation in astrocytes suppresses GFAP and stimulates a reorganization of the intermediate filament network. ⁶²	Kanski R...Hol EM	25128567	2014
335	Effects of traumatic brain injury on reactive astrogliosis and seizures in mouse models of Alexander disease. ⁶²	Cotrina ML...Nedergaard M	25069089	2014
336	Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder. ⁶²	Nishri D...Blumkin L	24742911	2014
337	Cyclic mood disorder heralding adult-onset autosomal dominant leucodystrophy: a clinical masquerader. ⁶²	Jain RS...Handa R	24813031	2014
338	Astrocytic TDP-43 pathology in Alexander disease. ⁶²	Walker AK...Messing A	24806671	2014
339	Adult onset Alexander disease presenting with progressive spastic paraplegia. ⁶²	Pedroso JL...Oliveira AS	24188966	2014
340	Synemin is expressed in reactive astrocytes and Rosenthal fibers in Alexander disease. ⁶²	Pekny T...Pekny M	23594359	2014
341	Ceftriaxone blocks the polymerization of α-synuclein and exerts neuroprotective effects in vitro. ⁶²	Ruzza P...Sechi G	24099687	2014
342	Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases. ⁶²	Ebrahimi-Fakhari D...Kolker S	24165736	2014
343	Caspase cleavage of GFAP produces an assembly-compromised proteolytic fragment that promotes filament aggregation. ⁶²	Chen MH...Perng MD	24102621	2013
344	Deficits in adult neurogenesis, contextual fear conditioning, and spatial learning in a Gfap mutant mouse model of Alexander disease. ⁶²	Hagemann TL...Messing A	24259590	2013
345	A conserved rod domain phosphotyrosine that is targeted by the phosphatase PTP1B promotes keratin 8 protein insolubility and filament organization. ⁶²	Snider NT...Omary MB	24003221	2013
346	Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings. ⁶²	da Silva Pereira CC...Lucato LT	24045243	2013
347	Infantile-onset Alexander disease in a child with long-term follow-up by serial magnetic resonance imaging: a case report. ⁶²	Nishibayashi F...Nozaki M	23890466	2013
348	A young child with seizures and mild developmental delay. Diagnosis: Alexander disease. ⁶²	Seguias L...Khan M	23718245	2013
349	ASTROCYTES: EMERGING STARS IN LEUKODYSTROPHY PATHOGENESIS. ⁶²	Lanciotti A...Ambrosini E	24340223	2013
350	Magnetic resonance imaging "tigroid pattern" in Alexander disease. ⁶²	Biancheri R...Minetti C	23254569	2013
351	Alexander disease with mild dorsal brainstem atrophy and infantile spasms. ⁶²	Torisu H...Hara T	22818990	2013
352	One size does not fit all: the oligomeric states of αB crystallin. ⁶²	Delbecq SP...Klevit RE	23340341	2013
353	Phenotypic conversions of "protoplasmic" to "reactive" astrocytes in Alexander disease. ⁶²	Sosunov AA...Goldman JE	23616550	2013
354	Alexander disease. ⁶²	Zafeiriou DI...Vargiami E	23149175	2013
355	Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy. ⁶²	Ramesh K...Gulati S	22566711	2013
356	Protein changes in immunodepleted cerebrospinal fluid from a transgenic mouse model of Alexander disease detected using mass spectrometry. ⁶²	Cunningham R...Li L	23272901	2013
357	MRS findings in a patient with juvenile-onset Alexander's leukodystrophy. ⁶²	Nelson A...Neitzschman HR	23550391	2013
358	Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up. ⁶²	Sechi G...Balbi P	23430549	2013
359	Leukodystrophies with astrocytic dysfunction. ⁶²	Rodriguez D	23622383	2013
360	[A case of Alexander disease suspected juvenile-onset and exacerbating after long stationary state]. ⁶²	Nagaishi A...Yoshida T	23782827	2013
361	[A case of progressive ataxia and palatal tremor (PAPT) with ear clicks]. ⁶²	Sumikura H...Mochizuki H	23524603	2013
362	Recognizable phenotypes associated with intracranial calcification. ⁶²	Livingston JH...Crow YJ	23121296	2013
363	Alexander's disease: reassessment of a neonatal form. ⁶²	Singh N...Loukas M	22890470	2012
364	Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep. ⁶²	Hida A...Takeuchi S	22619055	2012
365	Beneficial effects of αB-crystallin in spinal cord contusion injury. ⁶²	Klopstein A...Lopez-Vales R	23077034	2012
366	Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander disease. ⁶²	Bachetti T...Ceccherini I	22705585	2012
367	A case of adult-onset alexander disease featuring severe atrophy of the medulla oblongata and upper cervical cord on magnetic resonance imaging. ⁶²	Yonezu T...Kuwabara S	23185175	2012
368	Clinical aspects and pathology of Alexander disease, and morphological and functional alteration of astrocytes induced by GFAP mutation. ⁶²	Yoshida T...Nakagawa M	22118268	2012
369	Beneficial effects of Nrf2 overexpression in a mouse model of Alexander disease. ⁶²	LaPash Daniels CM...Messing A	22855800	2012
370	Infantile Alexander disease: A rare leukodystrophy. ⁶²	Kumar KJ...Harsha S	23248690	2012
371	[Clinical and genetic study of twelve Chinese patients with Alexander disease]. ⁶²	Zang LL...Wu XR	22883041	2012
372	Error in Figure in: Archetypal and New Families With Alexander Disease and Novel Mutations in GFAP. ⁶²		23753750	2012
373	Juvenile alexander disease: a case report. ⁶²	Ozkaya H...Suleymanoglu S	25610205	2012
374	c-Jun N-terminal kinase controls a negative loop in the regulation of glial fibrillary acidic protein expression by retinoic acid. ⁶²	Herrera F...Schubert D	22387108	2012
375	An unusual presentation of juvenile Alexander disease. ⁶²	Osorio MJ...Alper G	21940697	2012
376	Alexander disease. ⁶²	Messing A...Goldman JE	22496548	2012
377	A Rosenthal fiber encephalomyelopathy resembling Alexander's disease in 3 sheep. ⁶²	Kessell AE...Blumbergs PC	21233330	2012
378	Leukoencephalopathies associated with macrocephaly. ⁶²	Renaud DL	22422204	2012
379	[Adult-onset hereditary leukoencephalopathy: classification and molecular basis of the disorder]. ⁶²	Ikeuchi T	23196628	2012
380	Clinical and radiological characteristics in multiple sclerosis patients with large cavitary lesions. ⁶²	Renard D...Labauge P	22907640	2012
381	Leukodystrophies. ⁶²	Perlman SJ...Mar S	22411242	2012
382	Genetic ablation of Nrf2/antioxidant response pathway in Alexander disease mice reduces hippocampal gliosis but does not impact survival. ⁶²	Hagemann TL...Messing A	22693571	2012
383	Focal central white matter lesions in Alexander disease. ⁶²	Barreau P...Vanderver A	21572052	2011
384	Neurocognitive decline in Alexander disease. ⁶²	Restrepo J...Hammeke T	21902566	2011
385	Alexander disease causing mutations in the C-terminal domain of GFAP are deleterious both to assembly and network formation with the potential to both activate caspase 3 and decrease cell viability. ⁶²	Chen YS...Perng MD	21756903	2011
386	Serial MRI changes in a patient with infantile Alexander disease and prolonged survival. ⁶²	Shiihara T...Shimizu N	21041050	2011
387	The ocular motor features of adult-onset alexander disease: a case and review of the literature. ⁶²	Pfeffer G...Barton JJ	21403579	2011
388	Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene. ⁶²	Schmidt S...van der Knaap M	21165639	2011
389	MS-like presentation of Alexander disease with multifocal lesions and oligoclonal bands. ⁶²	Tschampa HJ...Gerding WM	21132324	2011
390	A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene. ⁶²	Delmonaco AG...Van Der Knaap M	21487377	2011
391	Magnetic resonance spectroscopy in the diagnostic evaluation of brainstem lesions in Alexander disease. ⁶²	Davison JE...Peet AC	21270471	2011
392	Protein misfolding and oxidative stress promote glial-mediated neurodegeneration in an Alexander disease model. ⁶²	Wang L...Feany MB	21414908	2011
393	[Intermediate-filament-associated diseases]. ⁶²	Paulin D...Li Z	21982403	2011
394	Alexander disease with periventricular calcification: a novel mutation of the GFAP gene. ⁶²	Jefferson RJ...Jayawant S	20964669	2010
395	Periventricular calcification added to the phenotypic repertoire of Alexander disease. ⁶²	Sawaishi Y	21175465	2010
396	Correspondence regarding: Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes. ⁶²	Sechi G...Ceccherini I	21107140	2010
397	The clinical spectrum of late-onset Alexander disease: a systematic literature review. ⁶²	Balbi P...Sechi G	20721574	2010
398	A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities. ⁶²	Bachetti T...Ceccherini I	20946255	2010
399	Fibrinoid leukodystrophy (Alexander's disease-like disorder) in a young adult French bulldog. ⁶²	Ito T...Nakayama H	20526046	2010
400	Strategies for treatment in Alexander disease. ⁶²	Messing A...Hagemann TL	20880512	2010
401	[Metabolic disorders with typical alterations in MRI]. ⁶²	Warmuth-Metz M	20924741	2010
402	Recent advances in (patho)physiology of astroglia. ⁶²	Verkhratsky A...Parpura V	20694024	2010
403	In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulation. ⁶²	Bachetti T...Sechi G	20471977	2010
404	Drug screening to identify suppressors of GFAP expression. ⁶²	Cho W...Messing A	20538881	2010
405	Alteration of glial-neuronal metabolic interactions in a mouse model of Alexander disease. ⁶²	Meisingset TW...Sonnewald U	20544858	2010
406	Clinical, radiological and genetic aspects of leukodystrophies. ⁶²	Laszlo A...Voros E	20812455	2010
407	Sleep apnea associated with floppy epiglottis in adult-onset Alexander disease: a case report. ⁶²	Ishikawa M...Nishizawa M	20535827	2010
408	Axonal damage in leukodystrophies. ⁶²	Mar S...Noetzel M	20304325	2010
409	Alexander disease: an important mimicker of focal brainstem glioma. ⁶²	Ring S...Plecko-Startinig B	19927292	2010
410	Alexander Disease: An Important Mimicker of Focal Brainstem Glioma-Response. ⁶²	Van Poppel K...Morris EB	21552504	2010
411	Ceftriaxone has a therapeutic role in Alexander disease. ⁶²	Sechi G...Serra A	19948199	2010
412	Cerebral blood flow on ECD SPECT in a patient with adult onset Alexander disease. ⁶²	Ito K...Matsuda H	20139839	2009
413	Alexander disease: An important mimicker of focal brainstem glioma. ⁶²	Van Poppel K...Morris EB	19672978	2009
414	Alexander disease: early presence of cerebral MRI criteria. ⁶²	Poloni CB...Korff CM	19128991	2009
415	Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter. ⁶²	van der Voorn JP...van der Knaap MS	19484233	2009
416	Alpha A-crystallin and alpha B-crystallin, newly identified interaction proteins of protease-activated receptor-2, rescue astrocytes from C2-ceramide- and staurosporine-induced cell death. ⁶²	Li R...Reiser G	19558454	2009
417	Cortical dysplasia with prominent Rosenthal fiber formation in a case of intractable pediatric epilepsy. ⁶²	Khanlou N...Vinters HV	19427021	2009
418	Review of Alexander disease: beyond the classical concept of leukodystrophy. ⁶²	Sawaishi Y	19386454	2009
419	Magnetic resonance findings in leucodystrophies and MS. ⁶²	Labauge P	19671368	2009
420	Tumor-like enlargement of the optic chiasm in an infant with Alexander disease. ⁶²	Mignot C...Rodriguez D	18584981	2009
421	A rare cause of neuromuscular scoliosis: Alexander disease. ⁶²	Ozturk C...Hamzaoglu A	19084454	2009
422	Neonatal Alexander disease: MR imaging prenatal diagnosis. ⁶²	Vazquez E...Enriquez G	18653683	2008
423	Glial fibrillary acidic protein filaments can tolerate the incorporation of assembly-compromised GFAP-delta, but with consequences for filament organization and alphaB-crystallin association. ⁶²	Perng MD...Quinlan RA	18685083	2008
424	Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: A report of two sibs. ⁶²	Delnooz CC...Salomons GS	18581469	2008
425	Valproate-induced parkinsonism, glial cells and Alexander's disease. ⁶²	Sechi GP...Cocco GA	18495313	2008
426	Adaptive autophagy in Alexander disease-affected astrocytes. ⁶²	Tang G...Goldman JE	28186854	2008
427	Magnetic resonance imaging findings in Alexander disease. ⁶²	Matarese CA...Renaud DL	18410858	2008
428	Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes. ⁶²	Matej R...Elleder M	18402384	2008
429	Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour. ⁶²	Hirayama T...Okuma Y	18217876	2008
430	Identifying the role of specific motifs in the lens fiber cell specific intermediate filament phakosin. ⁶²	Pittenger JT...Fitzgerald PG	17962466	2007
431	Glial cells more than support cells? ⁶²	He F...Sun YE	17141551	2007
432	Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report. ⁶²	Franzoni E...Bernardi B	17156703	2006
433	Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease. ⁶²	Dinopoulos A...DeGrauw T	17110673	2006
434	The spectrum of neurodegeneration in children. ⁶²	Sultan T...Khan MM	17052424	2006
435	Rosenthal fiber encephalopathy in a dog resembling Alexander disease in humans. ⁶²	Aleman N...Lopez-Pena M	17099166	2006
436	Fluoro-Jade: new fluorescent marker of Rosenthal fibers. ⁶²	Tanaka KF...Ikenaka K	16949206	2006
437	Early mitochondrial dysfunction in an infant with Alexander disease. ⁶²	Caceres-Marzal C...Fernandez S	16996408	2006
438	Identification of diffuse and focal brain lesions by clinical magnetic resonance spectroscopy. ⁶²	Kingsley PB...Woldenberg R	16763970	2006
439	Neuropathology for the neuroradiologist: Rosenthal fibers. ⁶²	Wippold FJ...Lennerz J	16687524	2006
440	Infantile Alexander's disease. A case report. ⁶²	Avina Fierro JA...Ramirez Contreras JP	16835579	2006
441	Alexander disease: not just a leukodystrophy anymore. ⁶²	Barkovich AJ...Messing A	16505295	2006
442	Adult Alexander's disease without leukoencephalopathy. ⁶²	Salvi F...Mascalchi M	16240361	2005
443	Alexander's disease presenting as status epilepticus in a child. ⁶²	Nair RR	16333210	2005
444	Unexplained mental retardation: is brain MRI useful? ⁶²	Decobert F...des Portes V	15739114	2005
445	Alexander disease: combined gene analysis and MRI clarify pathogenesis and extend phenotype. ⁶²	Moser HW	15732119	2005
446	Astrocyte intermediate filaments in CNS pathologies and regeneration. ⁶²	Pekny M...Pekna M	15495269	2004
447	Alexander disease: past and present. ⁶²	Hanefeld FA	15549177	2004
448	Alexander disease: putative mechanisms of an astrocytic encephalopathy. ⁶²	Mignot C...Rodriguez D	14770299	2004
449	Early cerebral images of Alexander disease: report of one case. ⁶²	Huang YT...Hsieh KS	15264709	2004
450	Feasibility study of single region lambda chart analysis for pyramidal tract physiology. ⁶²	Suzuki Y...Nakada T	14586599	2003
451	Megalencephalic leukoencephalopathy with subcortical cysts. ⁶²	Singhal BS...Naidu S	14572144	2003
452	Alexander's disease: clinical, pathologic, and genetic features. ⁶²	Johnson AB...Brenner M	14572141	2003
453	Ventriculosagittal sinus shunt placement: technical case report. ⁶²	Samadani U...Sutton LN	12943596	2003
454	The clinicopathological spectrum of Rosenthal fibre encephalopathy and Alexander's disease: a case report and review of the literature. ⁶²	Jacob J...Hilton DA	12754360	2003
455	Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. ⁶²	Brockmann K...Hanefeld F	12638020	2003
456	Alexander's disease in a neurologically normal child: a case report. ⁶²	Guthrie SO...Marshall R	12497239	2003
457	Atypical focal MRI lesions in a case of juvenile Alexander's disease. ⁶²	Probst EN...Kohlschutter A	12509855	2003
458	MR imaging and 1H-MR spectroscopy in a case of juvenile Alexander disease. ⁶²	Imamura A...Kondo T	12427522	2002
459	Infantile Alexander's disease: serial neuroradiologic findings. ⁶²	Ni Q...Geller TJ	12174972	2002
460	Scoliosis in a patient with Alexander disease. ⁶²	Nonomura Y...Miyamoto K	12131431	2002
461	Alexander disease: a review and the gene. ⁶²	Johnson AB	12175878	2002
462	Fluctuation of computed tomographic findings in white matter in Alexander's disease. ⁶²	Shiihara T...Hayasaka K	12026242	2002
463	An update on the leukodsytrophies. ⁶²	Schiffmann R...Boespflug-Tanguy O	11723390	2001
464	Lactic acid elevation in extramitochondrial childhood neurodegenerative diseases. ⁶²	Kang PB...Kaye EM	11575606	2001
465	Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment. ⁶²	Berger J...Forss-Petter S	11371752	2001
466	Ser-59 is the major phosphorylation site in alphaB-crystallin accumulated in the brains of patients with Alexander's disease. ⁶²	Kato K...Kishikawa M	11158243	2001
467	Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients. ⁶²	Ben-Zeev B...Brand N	11292232	2001
468	Childhood leukodystrophy presenting as secondary bipolar disorder. ⁶²	Duggal HS...Nizamie SH	21407844	2001
469	[Alexander disease]. ⁶²	Nakamura M	11462382	2001
470	Alexander disease and intermediate filaments in astrocytes: a fatal gain of function. ⁶²	Jaeken J	11587378	2001
471	Acute encephalopathy associated with vigabatrin in a six-month-old girl. ⁶²	Haas-Lude K...Krageloh-Mann I	10802771	2000
472	[Alexander's disease]. ⁶²	Iwaki T	11032014	2000
473	Alexander's disease: a case report of a biopsy proven case. ⁶²	Tatke M...Sharma A	10625914	1999
474	Differential expression of small heat shock proteins in reactive astrocytes after focal ischemia: possible role of beta-adrenergic receptor. ⁶²	Imura T...Kimura J	10559386	1999
475	Alexander disease: Alzheimer disease of the developing brain? ⁶²	Castellani RJ...Smith MA	10609673	1999
476	Palatal tremor, progressive multiple cranial nerve palsies, and cerebellar ataxia: a case report and review of literature of palatal tremors in neurodegenerative disease. ⁶²	Kulkarni PK...Swamy HS	10435510	1999
477	Positron emission tomography in juvenile Alexander disease. ⁶²	Sawaishi Y...Takada G	10450795	1999
478	Leukoencephalopathy with a mild clinical course: a case report. ⁶²	Yakinci C...Sener RN	10397361	1999
479	Alexander's disease: unique presentation. ⁶²	Gingold MK...Jaynes M	10342600	1999
480	Is Alexander's disease a nosologic entity or a common pathologic pattern of diverse etiology? ⁶²	Herndon RM	10342592	1999
481	Infantile and juvenile presentations of Alexander's disease: a report of two cases. ⁶²	Deprez M...D'Hooge M	10100959	1999
482	Variability of localization and intensity of damage of the white matter of the brain and cerebellum in genetically conditioned diseases. ⁶²	Kaluza J...Pietruszewski J	10705640	1999
483	Role of oxidative stress in frontotemporal dementia. ⁶²	Gerst JL...Smith MA	10436348	1999
484	Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy. ⁶²	Koeda T...Takeshita K	9661971	1998
485	Advanced lipid peroxidation end-products in Alexander's disease. ⁶²	Castellani RJ...Smith MA	9518535	1998
486	Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice. ⁶²	Messing A...Brenner M	9466565	1998
487	Advanced glycation modification of Rosenthal fibers in patients with Alexander disease. ⁶²	Castellani RJ...Smith MA	9291145	1997
488	Allogeneic bone marrow transplantation for Alexander's disease. ⁶²	Staba MJ...Huttenlocher PR	9257894	1997
489	Hereditary Alexander's disease. ⁶²	Honnorat J...Trouillas P	9040773	1997
490	Differentiation of dys- and demyelination using diffusional anisotropy. ⁶²	Ono J...Okada S	9044406	1997
491	Involvement of the pontomedullary corticospinal tracts: a useful finding in the diagnosis of X-linked adrenoleukodystrophy. ⁶²	Barkovich AJ...Boyer R	9010525	1997
492	Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brain. ⁶²	Donahue LR...Davisson MT	8995755	1996
493	Alexander disease: a case report and review of the literature. ⁶²	Reichard EA...Bove KE	9025838	1996
494	Rosenthal fiber encephalopathy presenting with demyelination and Rosenthal fibers in a solvent abuser: adult Alexander's disease? ⁶²	Wilson SP...Bridges LR	8998849	1996
495	Alexander's disease in a Bernese mountain dog. ⁶²	Weissenbock H...Dahme E	8787155	1996
496	Prominent white matter cavitation in an infant with Alexander's disease. ⁶²	Klein EA...Anzil AP	8033460	1994
497	Alexander's disease. ⁶²	Harding B	8224558	1993
498	A case of macrocephaly, hydrocephalus, megacerebellum, white matter abnormalities and Rosenthal fibres. ⁶²	Torreman M...Scheltens P	8335162	1993
499	Test and teach. Number seventy-three. Diagnosis: Alexander's disease. ⁶²	Moore L...Byard RW	8265244	1993
500	Dysmyelinating and demyelinating conditions in infancy. ⁶²	Kolodny EH	8507907	1993
501	The blood brain barrier in human leukodystrophies and allied diseases. Ultrastructural and morphometric studies on the capillaries in brain biopsies. ⁶²	Kondo A...Suzuki K	8324966	1993
502	Alexander's disease: clues to diagnosis. ⁶²	Pridmore CL...Brett EM	8505475	1993
503	Two possible cases of Alexander disease. Multimodal evoked potentials and MRI. ⁶²	Ichiyama T...Ukita T	8214336	1993
504	[Alexander's disease in adults and diffuse cerebral gliomatosis in 2 members of the same family]. ⁶²	Honnorat J...Kopp N	7997738	1993
505	Morphology of demyelination in the human central nervous system. ⁶²	Hauw JJ...Cornu P	1430147	1992
506	Progressive parkinsonism associated with Rosenthal fibers: senile-onset Alexander's disease? ⁶²	Friedman JH...Ambler M	1325040	1992
507	Increased intracranial pressure in Alexander disease: a rare presentation of white-matter disease. ⁶²	Garcia L...Yaish H	1573234	1992
508	Anaesthetic considerations for the child with leukodystrophy. ⁶²	Tobias JD	1563064	1992
509	Biopsy diagnosis of familial Alexander's disease. ⁶²	Duckett S...McLellan TL	1457372	1992
510	Alexander's disease in infancy and childhood: a report of two cases. ⁶²	Neal JW...Wallace SJ	1384269	1992
511	Fibrinoidal leucodystrophy (Alexander's disease) at 13 months girl. A case report. ⁶²	Marszal E...Jamroz E	1287550	1992
512	Chromosome 11q23.3-qter deletion and Alexander disease. ⁶²	Gutmann DH	2063930	1991
513	Alexander's disease: a case report with brain biopsy, ultrasound, CT scan and MRI findings. ⁶²	Arend AO...Rutherfoord GS	1650301	1991
514	Alexander's disease: cranial MRI and ultrasound findings. ⁶²	Schuster V...Kreth HW	2027717	1991
515	[Alexander's disease]. ⁶²	Elian JC...Freycon F	1652745	1991
516	Computed tomography in Alexander's disease. An atypical case with extensive low density in both frontal lobes. ⁶²	Clifton AG...Andar U	1749476	1991
517	Infantile Alexander disease: MR appearance of a biopsy-proved case. ⁶²	Shah M...Ross JS	2124037	1990
518	Rosenthal fibers in Alexander's disease. ⁶²	Harding BN	2398242	1990
519	Neuroimaging findings in Alexander's disease. ⁶²	Bobele GB...Brumback RA	2398241	1990
520	Comparative neuroimaging with pathologic correlates in Alexander's disease. ⁶²	Hess DC...Akamatsu Y	2398240	1990
521	Ultrastructural immunogold labeling of glial filaments in osmicated and unosmicated epoxy-embedded tissue. ⁶²	Bettica A...Johnson AB	2152935	1990
522	Cerebral gigantism: report of one case. ⁶²	Chu TH...Shen YZ	2278226	1990
523	On-grid immunogold labeling of glial intermediate filaments in epoxy-embedded tissue. ⁶²	Johnson AB...Bettica A	2672771	1989
524	Isolation of a major protein component of Rosenthal fibers. ⁶²	Goldman JE...Corbin E	3348359	1988
525	Alexander's disease: cranial ultrasound findings. ⁶²	Harbord MG...LeQuesne GW	3290822	1988
526	Alexander's disease: cranial ultrasound findings. ⁶²	Harbord MG...LeQuesne GW	3285307	1988
527	Asymptomatic adult Alexander's disease: entity or nosological misconception? ⁶²	Riggs JE...Nelson J	3336449	1988
528	[A case of leukodystrophy, suspected of Alexander's disease, and its magnetic resonance imaging]. ⁶²	Yoshimura N...Miyatake T	3440358	1987
529	Myeloencephalopathy with eosinophilic refractile bodies (Rosenthal fibers) in a Scottish terrier. ⁶²	Sorjonen DC...Kwapien RP	3570949	1987
530	Giant axonal neuropathy. A neuropathological study. ⁶²	Kretzschmar HA...Davis RL	3604581	1987
531	Myeloencephalopathy resembling Alexander's disease in a Scottish terrier dog. ⁶²	Cox NR...Braund KG	3776469	1986
532	Alexander's disease. A disease of astrocytes. ⁶²	Borrett D...Becker LE	3891011	1985
533	Alexander's disease. ⁶²	Townsend JJ...Fife R	4040694	1985
534	Computed tomography in Alexander's disease. ⁶²	Farrell K...Becker LE	6742795	1984
535	Alexander's disease with Rosenthal fibre formation in an adult. ⁶²	Walls TJ...Saunders M	6726266	1984
536	[Alexander's disease in an adult]. ⁶²	Habib M...Khalil R	6729328	1984
537	[Case of megalencephaly with leukodystrophic findings in CT scans--Alexander's disease?]. ⁶²	Kyoya S...Kimura A	6712846	1984
538	The value of CT in diagnosis and prognosis of different inborn neurodegenerative disorders in childhood. ⁶²	Wende S...Gehler J	6429290	1984
539	[Ultrastructural changes of skin nerve in Alexander's disease]. ⁶²	Terao Y...Murata R	6676502	1983
540	[Alexander's leukodystrophy]. ⁶²	Csermely H	6664363	1983
541	Noninvasive CT diagnosis of infantile Alexander disease: pathologic correlation. ⁶²	Trommer BL...Larsen MB	6841718	1983
542	[Astroglial dystrophy with Rosenthal fibers. On the adult form of Alexander disease and its clinical significance]. ⁶²	Ule G...Jacob H	6843729	1983
543	Megalencephaly with formation of Rosenthal fibers in symmetric subependymal gliomatous proliferations: clinicopathologic report. ⁶²	Pietrini V...Lechi A	6839573	1983
544	Alexander's disease: further light-, and electron-microscopic observations. ⁶²	Towfighi J...Horoupian DS	6624384	1983
545	Alexander's disease in an adult: clinicopathologic study of a case and review of the literature. ⁶²	Spalke G...Mennel HD	6301723	1982
546	[Alexander's disease (author's transl)]. ⁶²	Gerlach H...Koch E	7090590	1982
547	Bulbar palsy with Rosenthal fiber formation in the medulla of a 15-year-old girl. Localized form of Alexander's disease? ⁶²	Goebel HH...Kohlschutter A	6801536	1981
548	Computed tomography in the diagnosis of Canavan's disease. ⁶²	Rushton AR...Manuelidis EE	7271233	1981
549	Nickel induction of Rosenthal fibers in rat brain. ⁶²	Kress Y...Brosnan C	6971692	1981
550	Alexander disease: clinical, electrodiagnostic and radiographic studies. ⁶²	Nagao H...Nonaka I	7254481	1981
551	[Alexander's disease: new diagnostic approach]. ⁶²	Piattella L...Alessandrelli C	7336083	1980
552	Neurophysiological investigations in two cases of Alexander's disease with infantile onset. ⁶²	Battaglia A...Harden A	7341540	1980
553	Alexander's disease. A clinical study with computerized tomographic scans of the first two Italian cases. ⁶²	Barbieri F...Buscaino GA	6771965	1980
554	Diffuse Rosenthal fiber formation in adults. A case report. ⁶²	Rizzuto N...Piscioli A	7415817	1980
555	Computed tomography in Alexander's disease. ⁶²	Holland IM...Kendall BE	7422121	1980
556	Alexander's disease: case report including histopathological and electron microscopic features. ⁶²	Cole G...Bill P	479901	1979
557	Rosenthal fibers formation in the central nervous system. Its relation to Alexander's disease. ⁶²	Soffer D...Horoupian DS	463508	1979
558	[Electron microscopic and neurochemical study of Alexander's disease (author's transl)]. ⁶²	Escourolle R...Hauw JJ	419936	1979
559	Brain biopsies for neurodegenerative disease in children. ⁶²	MacGregor DL...Becker LE	660354	1978
560	Thrombotic thrombocytopenic purpura in a child with Alexander's disease. ⁶²	Rankin WE...Weisenburger DD	579308	1977
561	Alexander's disease presenting as astrocytoma. ⁶²	French TA...Cameron AH	956866	1976
562	Alexander's disease: a report and reappraisal. ⁶²	Russo LS...Anderson PJ	180453	1976
563	Alexander disease. Case report with electron microscopical studies and review of the literature. ⁶²	Garret R...Ames RP	4417741	1974
564	Alexander's disease: report of a case presenting as obstructive hydrocephalus. ⁶²	Chandar K...Anderson MS	4437700	1974
565	Alexander's disease in an adult (leukodystrophy with Rosenthal fibers). ⁶²		5031908	1972
566	Alexander's disease with sudanophilic leukodystrophy. ⁶²	Sherwin RM...Berthrong M	4190963	1970
567	Alexander's disease in an adult. Report of a case. ⁶²	Seil FJ...Earle KM	5684299	1968
568	Alexander's disease. A case report with electron microscopic observations. ⁶²	Schochet SS...Earle KM	5691014	1968
569	Leucodystrophy with Rosenthal fibers (Alexander's disease): a histochemical and electron microscopic study. ⁶²	Herndon RM...Rubinstein LJ	5690398	1968
570	Alexander's disease--really a leucodystrophy? ⁶²	Peiffer J	5688466	1968
571	[Case of leukodystrophy with diffuse Rosenthal fiber formation (Alexander's disease)]. ⁶²	Iri H...Matsuyama H	6010162	1966
572	ALEXANDER'S DISEASE. ⁶²	FRIEDE RL	14196734	1964

Sources

Genes for Alexander Disease

Genes related to Alexander Disease (1 elite genes):

(showing 25, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GFAP	Glial Fibrillary Acidic Protein	Protein Coding	1724.39	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (gain of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	11138011 11567214 11587071 (more) 12034796 12447932 12975300 14557587 15732097 15840648 16168595 16826512 17043438 17065456 17318298 17383133 17894839 18004641 18388212 18684770 19444543 19618846 20301351 20448479 20562394 20849398 21533827 21822933 21917775 22488673 22510744 23364391 23432455 23903069 24306001 24427505 26478912 26486469 30355500 31484723 219025661 12175861 17299771 16217707 17038307 15696488 18197187 16168593 17934883 19146851 18079314 16774812 20110364 17498694 17604020 15465095 15030911 12944715 15139294 17985264 11867077 11595337 15477559 12581808 9698163 11398833 16014634 12368989 17960815 17805552 16505300 15675360 15390001 15090471 14550921 1707236 19457099 9044656 18414043 18276609 18054694 17663146 20359319 16373170 12801639 12696672 19412928 17703343 19418047 18602179 17956445 12849260 12058025 9482251 19379794 17629821 16507904 16365765
2	CRYAB	Crystallin Alpha B	Protein Coding	24.72	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	1407707 8393618 1743282 (more) 1656764 8256860 10931363 1898384 9482251 1707236 9492095
3	HSPB1	Heat Shock Protein Family B (Small) Member 1	Protein Coding	22.16	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8256860 8393618 7541446
4	PLEC	Plectin	Protein Coding	14.11	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
5	SYNM	Synemin	Protein Coding	14.03	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
6	HTT	Huntingtin	Protein Coding	12.62	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
7	VIM	Vimentin	Protein Coding	12.06	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
8	CASP3	Caspase 3	Protein Coding	11.75	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	HDAC6	Histone Deacetylase 6	Protein Coding	11.31	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
10	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	11.31	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
11	NDUFV1	NADH:Ubiquinone Oxidoreductase Core Subunit V1	Protein Coding	10.88	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	10.36	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
13	CRYAA	Crystallin Alpha A	Protein Coding	9.98	DISEASES inferred ¹⁴ ¹⁴
14	RPS27A	Ribosomal Protein S27a	Protein Coding	8.6	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15840648 1707236
15	BLZF1	Basic Leucine Zipper Nuclear Factor 1	Protein Coding	7.58	GeneCards inferred via : Publications (show sections)
16	HSPB2	Heat Shock Protein Family B (Small) Member 2	Protein Coding	6.76	DISEASES inferred ¹⁴
17	SLC1A2	Solute Carrier Family 1 Member 2	Protein Coding	6.73	DISEASES inferred ¹⁴
18	HSPB3	Heat Shock Protein Family B (Small) Member 3	Protein Coding	6.61	DISEASES inferred ¹⁴
19	PLP1	Proteolipid Protein 1	Protein Coding	6.33	DISEASES inferred ¹⁴
20	KCNJ10	Potassium Inwardly Rectifying Channel Subfamily J Member 10	Protein Coding	6.1	DISEASES inferred ¹⁴
21	HEPACAM	Hepatic And Glial Cell Adhesion Molecule	Protein Coding	6.09	DISEASES inferred ¹⁴
22	GJC2	Gap Junction Protein Gamma 2	Protein Coding	5.98	DISEASES inferred ¹⁴
23	AQP4	Aquaporin 4	Protein Coding	5.98	DISEASES inferred ¹⁴
24	SLC1A3	Solute Carrier Family 1 Member 3	Protein Coding	5.87	DISEASES inferred ¹⁴
25	S100B	S100 Calcium Binding Protein B	Protein Coding	5.8	DISEASES inferred ¹⁴

Sources

Variations for Alexander Disease

ClinVar genetic disease variations for Alexander Disease:

⁵ (showing 137, show less)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GFAP	NP_002046.1(GFAP):p.Glu373Asp	PROTEIN	Pathogenic	190359		GRCh37: GRCh38:
2	GFAP	NP_002046.1(GFAP):p.Met415Ile	PROTEIN	Pathogenic	190364		GRCh37: GRCh38:
3	GFAP	NM_002055.5(GFAP):c.1171+475_1171+482delinsATC	INDEL	Pathogenic	190366	rs797044592	GRCh37: 17:42987501-42987508 GRCh38: 17:44910133-44910140
4	GFAP	NP_002046.1:p.Phe261_Thr302del	DEL	Pathogenic	190369		GRCh37: GRCh38:
5	GFAP	NM_002055.5(GFAP):c.242C>A (p.Ala81Asp)	SNV	Pathogenic	637027	rs1597864461	GRCh37: 17:42992613-42992613 GRCh38: 17:44915245-44915245
6	GFAP	NM_002055.5(GFAP):c.217A>G (p.Met73Val)	SNV	Pathogenic	1173085		GRCh37: 17:42992638-42992638 GRCh38: 17:44915270-44915270
7	GFAP	NM_002055.5(GFAP):c.1111G>A (p.Glu371Lys)	SNV	Pathogenic	1199219		GRCh37: 17:42988620-42988620 GRCh38: 17:44911252-44911252
8	GFAP	NM_002055.5(GFAP):c.1087A>G (p.Ile363Val)	SNV	Pathogenic	1685846		GRCh37: 17:42988644-42988644 GRCh38: 17:44911276-44911276
9	GFAP	NM_002055.5(GFAP):c.715C>T (p.Arg239Cys)	SNV	Pathogenic	16167	rs58064122	GRCh37: 17:42990702-42990702 GRCh38: 17:44913334-44913334
10	GFAP	NM_002055.5(GFAP):c.716G>A (p.Arg239His)	SNV	Pathogenic	16168	rs59565950	GRCh37: 17:42990701-42990701 GRCh38: 17:44913333-44913333
11	GFAP	NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp)	SNV	Pathogenic	16169	rs121909717	GRCh37: 17:42985443-42985443 GRCh38: 17:44908075-44908075
12	GFAP	NM_002055.5(GFAP):c.236G>A (p.Arg79His)	SNV	Pathogenic	16170	rs59285727	GRCh37: 17:42992619-42992619 GRCh38: 17:44915251-44915251
13	GFAP	NM_002055.5(GFAP):c.235C>T (p.Arg79Cys)	SNV	Pathogenic	16171	rs59793293	GRCh37: 17:42992620-42992620 GRCh38: 17:44915252-44915252
14	GFAP	NM_002055.5(GFAP):c.262C>T (p.Arg88Cys)	SNV	Pathogenic	16172	rs61622935	GRCh37: 17:42992593-42992593 GRCh38: 17:44915225-44915225
15	GFAP	NM_002055.5(GFAP):c.262C>A (p.Arg88Ser)	SNV	Pathogenic	16173	rs61622935	GRCh37: 17:42992593-42992593 GRCh38: 17:44915225-44915225
16	GFAP	NM_002055.5(GFAP):c.226C>T (p.Leu76Phe)	SNV	Pathogenic	16174	rs57120761	GRCh37: 17:42992629-42992629 GRCh38: 17:44915261-44915261
17	GFAP	NM_002055.5(GFAP):c.229A>T (p.Asn77Tyr)	SNV	Pathogenic	16175	rs58732244	GRCh37: 17:42992626-42992626 GRCh38: 17:44915258-44915258
18	GFAP	NM_002055.5(GFAP):c.1086G>C (p.Glu362Asp)	SNV	Pathogenic	16176	rs121909718	GRCh37: 17:42988645-42988645 GRCh38: 17:44911277-44911277
19	GFAP	NM_002055.5(GFAP):c.827G>T (p.Arg276Leu)	SNV	Pathogenic	16177	rs121909719	GRCh37: 17:42989119-42989119 GRCh38: 17:44911751-44911751
20	GFAP	NM_002055.5(GFAP):c.1055T>C (p.Leu352Pro)	SNV	Pathogenic	16178	rs28932769	GRCh37: 17:42988676-42988676 GRCh38: 17:44911308-44911308
21	GFAP	NM_002055.5(GFAP):c.234C>A (p.Asp78Glu)	SNV	Pathogenic	16179	rs121909720	GRCh37: 17:42992621-42992621 GRCh38: 17:44915253-44915253
22	GFAP	NM_002055.5(GFAP):c.218T>C (p.Met73Thr)	SNV	Pathogenic	190334	rs61060395	GRCh37: 17:42992637-42992637 GRCh38: 17:44915269-44915269
23	GFAP	NM_002055.5(GFAP):c.208C>T (p.Arg70Trp)	SNV	Pathogenic	66460	rs60343255	GRCh37: 17:42992647-42992647 GRCh38: 17:44915279-44915279
24	GFAP	NM_002055.5(GFAP):c.230A>G (p.Asn77Ser)	SNV	Pathogenic	66468	rs57590980	GRCh37: 17:42992625-42992625 GRCh38: 17:44915257-44915257
25	GFAP	NM_002055.5(GFAP):c.259G>A (p.Val87Ile)	SNV	Pathogenic	190339	rs267607518	GRCh37: 17:42992596-42992596 GRCh38: 17:44915228-44915228
26	GFAP	NM_002055.5(GFAP):c.259G>C (p.Val87Leu)	SNV	Pathogenic	66477	rs267607518	GRCh37: 17:42992596-42992596 GRCh38: 17:44915228-44915228
27	GFAP	NM_002055.5(GFAP):c.236G>A (p.Arg79His)	SNV	Pathogenic	190336	rs59285727	GRCh37: 17:42992619-42992619 GRCh38: 17:44915251-44915251
28	GFAP	NM_002055.5(GFAP):c.716G>T (p.Arg239Leu)	SNV	Pathogenic	66498	rs59565950	GRCh37: 17:42990701-42990701 GRCh38: 17:44913333-44913333
29	GFAP	NM_002055.5(GFAP):c.791T>C (p.Leu264Pro)	SNV	Pathogenic	190346	rs797044579	GRCh37: 17:42989155-42989155 GRCh38: 17:44911787-44911787
30	GFAP	NM_002055.5(GFAP):c.803C>A (p.Ala268Asp)	SNV	Pathogenic	190349	rs797044582	GRCh37: 17:42989143-42989143 GRCh38: 17:44911775-44911775
31	GFAP	NM_002055.5(GFAP):c.988C>G (p.Arg330Gly)	SNV	Pathogenic	190352	rs267607513	GRCh37: 17:42988743-42988743 GRCh38: 17:44911375-44911375
32	GFAP	NM_002055.5(GFAP):c.1079A>T (p.Asp360Val)	SNV	Pathogenic	66431	rs62636501	GRCh37: 17:42988652-42988652 GRCh38: 17:44911284-44911284
33	GFAP	NM_002055.5(GFAP):c.1085A>G (p.Glu362Gly)	SNV	Pathogenic	190357	rs797044588	GRCh37: 17:42988646-42988646 GRCh38: 17:44911278-44911278
34	GFAP	NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro)	SNV	Pathogenic	66428	rs267607515	GRCh37: 17:42988661-42988661 GRCh38: 17:44911293-44911293
35	GFAP	NM_002055.5(GFAP):c.994G>A (p.Glu332Lys)	SNV	Pathogenic	66515	rs267607514	GRCh37: 17:42988737-42988737 GRCh38: 17:44911369-44911369
36	GFAP	NM_002055.5(GFAP):c.1193C>T (p.Ser398Phe)	SNV	Pathogenic	190363	rs267607508	GRCh37: 17:42985496-42985496 GRCh38: 17:44908128-44908128
37	GFAP	NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)	SNV	Likely Pathogenic	190362	rs797044590	GRCh37: 17:42988000-42988000 GRCh38: 17:44910632-44910632
38	GFAP	NM_002055.5(GFAP):c.252C>G (p.Ile84Met)	SNV	Likely Pathogenic	432046	rs571151302	GRCh37: 17:42992603-42992603 GRCh38: 17:44915235-44915235
39	GFAP	NM_002055.5(GFAP):c.215A>G (p.Glu72Gly)	SNV	Likely Pathogenic	374303	rs1057518685	GRCh37: 17:42992640-42992640 GRCh38: 17:44915272-44915272
40	GFAP	NM_002055.5(GFAP):c.1125C>G (p.Asn375Lys)	SNV	Likely Pathogenic	590968	rs1567773470	GRCh37: 17:42988606-42988606 GRCh38: 17:44911238-44911238
41	GFAP	NM_002055.5(GFAP):c.706A>G (p.Lys236Glu)	SNV	Likely Pathogenic	1299244		GRCh37: 17:42990711-42990711 GRCh38: 17:44913343-44913343
42	GFAP	NM_002055.5(GFAP):c.1235C>T (p.Thr412Ile)	SNV	Likely Pathogenic	803429	rs1597853099	GRCh37: 17:42985454-42985454 GRCh38: 17:44908086-44908086
43	GFAP	NM_002055.5(GFAP):c.1171+473C>A	SNV	Likely Pathogenic	805942	rs775524073	GRCh37: 17:42987510-42987510 GRCh38: 17:44910142-44910142
44	GFAP	NM_002055.5(GFAP):c.197G>A (p.Arg66Gln)	SNV	Conflicting Interpretations Of Pathogenicity	190332	rs797044569	GRCh37: 17:42992658-42992658 GRCh38: 17:44915290-44915290
45	GFAP	NM_002055.5(GFAP):c.329C>G (p.Thr110Ser)	SNV	Uncertain Significance	323625	rs147282497	GRCh37: 17:42992526-42992526 GRCh38: 17:44915158-44915158
46	GFAP	NM_002055.5(GFAP):c.488T>C (p.Leu163Pro)	SNV	Uncertain Significance	808282	rs780225821	GRCh37: 17:42991430-42991430 GRCh38: 17:44914062-44914062
47	GFAP	NM_002055.5(GFAP):c.145C>T (p.Arg49Trp)	SNV	Uncertain Significance	1709470		GRCh37: 17:42992710-42992710 GRCh38: 17:44915342-44915342
48	GFAP	NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)	SNV	Uncertain Significance	66494	rs56679084	GRCh37: 17:42990750-42990750 GRCh38: 17:44913382-44913382
49	GFAP	NM_002055.5(GFAP):c.1171+5G>A	SNV	Uncertain Significance	323610	rs759032212	GRCh37: 17:42987978-42987978 GRCh38: 17:44910610-44910610
50	GFAP	NM_002055.5(GFAP):c.930G>A (p.Met310Ile)	SNV	Uncertain Significance	548570	rs755602073	GRCh37: 17:42988801-42988801 GRCh38: 17:44911433-44911433
51	GFAP	NM_002055.5(GFAP):c.1171+144T>C	SNV	Uncertain Significance	930563	rs560230868	GRCh37: 17:42987839-42987839 GRCh38: 17:44910471-44910471
52	GFAP	NM_002055.5(GFAP):c.1171+472G>C	SNV	Uncertain Significance	931895	rs748860341	GRCh37: 17:42987511-42987511 GRCh38: 17:44910143-44910143
53	GFAP	NM_002055.5(GFAP):c.462-2A>G	SNV	Uncertain Significance	1029407	rs1338213981	GRCh37: 17:42991458-42991458 GRCh38: 17:44914090-44914090
54	GFAP	NM_002055.5(GFAP):c.697G>A (p.Ala233Thr)	SNV	Uncertain Significance	1032795	rs1220287768	GRCh37: 17:42990720-42990720 GRCh38: 17:44913352-44913352
55	GFAP	NM_002055.5(GFAP):c.793A>G (p.Thr265Ala)	SNV	Uncertain Significance	1064519	rs758250219	GRCh37: 17:42989153-42989153 GRCh38: 17:44911785-44911785
56	GFAP	NM_002055.5(GFAP):c.989G>C (p.Arg330Pro)	SNV	Uncertain Significance	522797	rs983143417	GRCh37: 17:42988742-42988742 GRCh38: 17:44911374-44911374
57	GFAP	NM_002055.5(GFAP):c.381C>T (p.Leu127=)	SNV	Uncertain Significance	323622	rs138320302	GRCh37: 17:42992474-42992474 GRCh38: 17:44915106-44915106
58	GFAP	NM_002055.5(GFAP):c.1171+420C>T	SNV	Uncertain Significance	225373	rs180974014	GRCh37: 17:42987563-42987563 GRCh38: 17:44910195-44910195
59	GFAP	NM_002055.5(GFAP):c.934G>T (p.Glu312Ter)	SNV	Uncertain Significance	190351	rs763868966	GRCh37: 17:42988797-42988797 GRCh38: 17:44911429-44911429
60	GFAP	NM_002055.5(GFAP):c.462-8dup	DUP	Likely Benign	323620	rs572562362	GRCh37: 17:42991463-42991464 GRCh38: 17:44914095-44914096
61	GFAP	NM_002055.5(GFAP):c.*16G>A	SNV	Likely Benign	323608	rs113487550	GRCh37: 17:42984699-42984699 GRCh38: 17:44907331-44907331
62	GFAP	NM_002055.5(GFAP):c.858G>C (p.Arg286=)	SNV	Likely Benign	917886	rs2289681	GRCh37: 17:42989088-42989088 GRCh38: 17:44911720-44911720
63	GFAP	NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)	SNV	Likely Benign	66457	rs57474185	GRCh37: 17:42992715-42992715 GRCh38: 17:44915347-44915347
64	GFAP	NM_002055.5(GFAP):c.205G>A (p.Glu69Lys)	SNV	Not Provided	190333	rs797044570	GRCh37: 17:42992650-42992650 GRCh38: 17:44915282-44915282
65	GFAP	NM_002055.5(GFAP):c.209G>A (p.Arg70Gln)	SNV	Not Provided	66461	rs267607510	GRCh37: 17:42992646-42992646 GRCh38: 17:44915278-44915278
66	GFAP	NM_002055.5(GFAP):c.232G>A (p.Asp78Asn)	SNV	Not Provided	190335	rs797044571	GRCh37: 17:42992623-42992623 GRCh38: 17:44915255-44915255
67	GFAP	NM_002055.5(GFAP):c.235C>G (p.Arg79Gly)	SNV	Not Provided	66470	rs59793293	GRCh37: 17:42992620-42992620 GRCh38: 17:44915252-44915252
68	GFAP	NM_002055.5(GFAP):c.214G>A (p.Glu72Lys)	SNV	Not Provided	66463	rs267607523	GRCh37: 17:42992641-42992641 GRCh38: 17:44915273-44915273
69	GFAP	NM_002055.5(GFAP):c.221T>C (p.Met74Thr)	SNV	Not Provided	66466	rs267607504	GRCh37: 17:42992634-42992634 GRCh38: 17:44915266-44915266
70	GFAP	NM_002055.5(GFAP):c.218T>G (p.Met73Arg)	SNV	Not Provided	66465	rs61060395	GRCh37: 17:42992637-42992637 GRCh38: 17:44915269-44915269
71	GFAP	NM_002055.5(GFAP):c.218T>A (p.Met73Lys)	SNV	Not Provided	66464	rs61060395	GRCh37: 17:42992637-42992637 GRCh38: 17:44915269-44915269
72	GFAP	NM_002055.5(GFAP):c.226C>G (p.Leu76Val)	SNV	Not Provided	66467	rs57120761	GRCh37: 17:42992629-42992629 GRCh38: 17:44915261-44915261
73	GFAP	NM_002055.5(GFAP):c.692T>A (p.Leu231His)	SNV	Not Provided	190343	rs797044577	GRCh37: 17:42990725-42990725 GRCh38: 17:44913357-44913357
74	GFAP	NM_002055.5(GFAP):c.704T>C (p.Leu235Pro)	SNV	Not Provided	66495	rs60269890	GRCh37: 17:42990713-42990713 GRCh38: 17:44913345-44913345
75	GFAP	NM_002055.5(GFAP):c.707A>C (p.Lys236Thr)	SNV	Not Provided	66496	rs267607525	GRCh37: 17:42990710-42990710 GRCh38: 17:44913342-44913342
76	GFAP	NM_002055.5(GFAP):c.715C>G (p.Arg239Gly)	SNV	Not Provided	190344	rs58064122	GRCh37: 17:42990702-42990702 GRCh38: 17:44913334-44913334
77	GFAP	NM_002055.5(GFAP):c.716G>C (p.Arg239Pro)	SNV	Not Provided	66497	rs59565950	GRCh37: 17:42990701-42990701 GRCh38: 17:44913333-44913333
78	GFAP	NM_002055.5(GFAP):c.236G>C (p.Arg79Pro)	SNV	Not Provided	66471	rs59285727	GRCh37: 17:42992619-42992619 GRCh38: 17:44915251-44915251
79	GFAP	NM_002055.5(GFAP):c.236G>T (p.Arg79Leu)	SNV	Not Provided	66472	rs59285727	GRCh37: 17:42992619-42992619 GRCh38: 17:44915251-44915251
80	GFAP	NM_002055.5(GFAP):c.239T>C (p.Phe80Ser)	SNV	Not Provided	190337	rs797044572	GRCh37: 17:42992616-42992616 GRCh38: 17:44915248-44915248
81	GFAP	NM_002055.5(GFAP):c.247T>C (p.Tyr83His)	SNV	Not Provided	66473	rs267607506	GRCh37: 17:42992608-42992608 GRCh38: 17:44915240-44915240
82	GFAP	NM_002055.5(GFAP):c.256A>G (p.Lys86Glu)	SNV	Not Provided	190338	rs797044573	GRCh37: 17:42992599-42992599 GRCh38: 17:44915231-44915231
83	GFAP	NM_002055.5(GFAP):c.260T>G (p.Val87Gly)	SNV	Not Provided	66478	rs60449251	GRCh37: 17:42992595-42992595 GRCh38: 17:44915227-44915227
84	GFAP	NM_002055.5(GFAP):c.269T>C (p.Leu90Pro)	SNV	Not Provided	66479	rs59661476	GRCh37: 17:42992586-42992586 GRCh38: 17:44915218-44915218
85	GFAP	NM_002055.5(GFAP):c.278A>C (p.Gln93Pro)	SNV	Not Provided	190340	rs797044574	GRCh37: 17:42992577-42992577 GRCh38: 17:44915209-44915209
86	GFAP	NM_002055.5(GFAP):c.290T>C (p.Leu97Pro)	SNV	Not Provided	66480	rs59568967	GRCh37: 17:42992565-42992565 GRCh38: 17:44915197-44915197
87	GFAP	NM_002055.5(GFAP):c.302T>C (p.Leu101Pro)	SNV	Not Provided	66481	rs267607516	GRCh37: 17:42992553-42992553 GRCh38: 17:44915185-44915185
88	GFAP	NM_002055.5(GFAP):c.365_373dup (p.Arg124_Leu125insGlnLeuArg)	DUP	Not Provided	190341	rs797044575	GRCh37: 17:42992481-42992482 GRCh38: 17:44915113-44915114
89	GFAP	NM_002055.5(GFAP):c.382G>A (p.Asp128Asn)	SNV	Not Provided	66484	rs267607509	GRCh37: 17:42992473-42992473 GRCh38: 17:44915105-44915105
90	GFAP	NM_002055.5(GFAP):c.613G>A (p.Glu205Lys)	SNV	Not Provided	66488	rs267607507	GRCh37: 17:42991101-42991101 GRCh38: 17:44913733-44913733
91	GFAP	NM_002055.5(GFAP):c.619G>A (p.Glu207Lys)	SNV	Not Provided	66491	rs267607500	GRCh37: 17:42990798-42990798 GRCh38: 17:44913430-44913430
92	GFAP	NM_002055.5(GFAP):c.619G>C (p.Glu207Gln)	SNV	Not Provided	66492	rs267607500	GRCh37: 17:42990798-42990798 GRCh38: 17:44913430-44913430
93	GFAP	NM_002055.5(GFAP):c.628G>A (p.Glu210Lys)	SNV	Not Provided	66493	rs57661783	GRCh37: 17:42990789-42990789 GRCh38: 17:44913421-44913421
94	GFAP	NM_002055.5(GFAP):c.1249del (p.Asp417fs)	DEL	Not Provided	190365	rs797044591	GRCh37: 17:42985440-42985440 GRCh38: 17:44908072-44908072
95	GFAP	NM_002055.5(GFAP):c.256_259delinsGAGT (p.Lys86_Val87delinsGluPhe)	INDEL	Not Provided	66475	rs267607501	GRCh37: 17:42992596-42992599 GRCh38: 17:44915228-44915231
96	GFAP	NM_002055.5(GFAP):c.369GCGGCT[3] (p.124RL[3])	MICROSAT	Not Provided	190342	rs797044576	GRCh37: 17:42992474-42992475 GRCh38: 17:44915106-44915107
97	GFAP	NM_002055.5(GFAP):c.1074C>G (p.Ala358=)	SNV	Not Provided	190356	rs797044587	GRCh37: 17:42988657-42988657 GRCh38: 17:44911289-44911289
98	GFAP	NM_002055.5(GFAP):c.619-3C>G	SNV	Not Provided	190368	rs112611995	GRCh37: 17:42990801-42990801 GRCh38: 17:44913433-44913433
99	GFAP	NM_002055.5(GFAP):c.187A>C (p.Lys63Gln)	SNV	Not Provided	66459	rs60095124	GRCh37: 17:42992668-42992668 GRCh38: 17:44915300-44915300
100	GFAP	NM_002055.5(GFAP):c.992T>C (p.Leu331Pro)	SNV	Not Provided	66514	rs59985777	GRCh37: 17:42988739-42988739 GRCh38: 17:44911371-44911371
101	GFAP	NM_002055.5(GFAP):c.835A>G (p.Lys279Glu)	SNV	Not Provided	66507	rs58536923	GRCh37: 17:42989111-42989111 GRCh38: 17:44911743-44911743
102	GFAP	NM_002055.5(GFAP):c.868C>G (p.Gln290Glu)	SNV	Not Provided	190350	rs797044583	GRCh37: 17:42989078-42989078 GRCh38: 17:44911710-44911710
103	GFAP	NM_002055.5(GFAP):c.791_792delinsCT (p.Leu264Pro)	INDEL	Not Provided	190347	rs797044580	GRCh37: 17:42989154-42989155 GRCh38: 17:44911786-44911787
104	GFAP	NM_002055.5(GFAP):c.799G>C (p.Ala267Pro)	SNV	Not Provided	190348	rs797044581	GRCh37: 17:42989147-42989147 GRCh38: 17:44911779-44911779
105	GFAP	NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp)	SNV	Not Provided	66499	rs60551555	GRCh37: 17:42990693-42990693 GRCh38: 17:44913325-44913325
106	GFAP	NM_002055.5(GFAP):c.731C>T (p.Ala244Val)	SNV	Not Provided	66500	rs61497286	GRCh37: 17:42990686-42990686 GRCh38: 17:44913318-44913318
107	GFAP	NM_002055.5(GFAP):c.739T>C (p.Ser247Pro)	SNV	Not Provided	66501	rs267607519	GRCh37: 17:42990678-42990678 GRCh38: 17:44913310-44913310
108	GFAP	NM_002055.5(GFAP):c.758C>G (p.Ala253Gly)	SNV	Not Provided	66502	rs61726470	GRCh37: 17:42990659-42990659 GRCh38: 17:44913291-44913291
109	GFAP	NM_002055.5(GFAP):c.770A>G (p.Tyr257Cys)	SNV	Not Provided	66504	rs267607505	GRCh37: 17:42990647-42990647 GRCh38: 17:44913279-44913279
110	GFAP	NM_002055.5(GFAP):c.772C>T (p.Arg258Cys)	SNV	Not Provided	190345	rs797044578	GRCh37: 17:42990645-42990645 GRCh38: 17:44913277-44913277
111	GFAP	NM_002055.5(GFAP):c.773G>C (p.Arg258Pro)	SNV	Not Provided	66505	rs61726468	GRCh37: 17:42990644-42990644 GRCh38: 17:44913276-44913276
112	GFAP	NM_002055.5(GFAP):c.1090G>A (p.Ala364Thr)	SNV	Not Provided	190358	rs58645997	GRCh37: 17:42988641-42988641 GRCh38: 17:44911273-44911273
113	GFAP	NM_002055.5(GFAP):c.1090G>C (p.Ala364Pro)	SNV	Not Provided	66432	rs58645997	GRCh37: 17:42988641-42988641 GRCh38: 17:44911273-44911273
114	GFAP	NM_002055.5(GFAP):c.1091C>T (p.Ala364Val)	SNV	Not Provided	66433	rs267607503	GRCh37: 17:42988640-42988640 GRCh38: 17:44911272-44911272
115	GFAP	NM_002055.5(GFAP):c.1096T>C (p.Tyr366His)	SNV	Not Provided	66434	rs58008462	GRCh37: 17:42988635-42988635 GRCh38: 17:44911267-44911267
116	GFAP	NM_002055.5(GFAP):c.1097A>G (p.Tyr366Cys)	SNV	Not Provided	66435	rs267607502	GRCh37: 17:42988634-42988634 GRCh38: 17:44911266-44911266
117	GFAP	NM_002055.5(GFAP):c.1111G>C (p.Glu371Gln)	SNV	Not Provided	66436	rs267607526	GRCh37: 17:42988620-42988620 GRCh38: 17:44911252-44911252
118	GFAP	NM_002055.5(GFAP):c.1112A>G (p.Glu371Gly)	SNV	Not Provided	66437	rs57815192	GRCh37: 17:42988619-42988619 GRCh38: 17:44911251-44911251
119	GFAP	NM_002055.5(GFAP):c.1112A>T (p.Glu371Val)	SNV	Not Provided	66438	rs57815192	GRCh37: 17:42988619-42988619 GRCh38: 17:44911251-44911251
120	GFAP	NM_002055.5(GFAP):c.1117G>A (p.Glu373Lys)	SNV	Not Provided	66439	rs58075601	GRCh37: 17:42988614-42988614 GRCh38: 17:44911246-44911246
121	GFAP	NM_002055.5(GFAP):c.1117G>C (p.Glu373Gln)	SNV	Not Provided	66440	rs58075601	GRCh37: 17:42988614-42988614 GRCh38: 17:44911246-44911246
122	GFAP	NM_002055.5(GFAP):c.1118A>C (p.Glu373Ala)	SNV	Not Provided	190360	rs797044589	GRCh37: 17:42988613-42988613 GRCh38: 17:44911245-44911245
123	GFAP	NM_002055.5(GFAP):c.1121A>G (p.Glu374Gly)	SNV	Not Provided	66441	rs59628143	GRCh37: 17:42988610-42988610 GRCh38: 17:44911242-44911242
124	GFAP	NM_002055.5(GFAP):c.1126C>T (p.Arg376Trp)	SNV	Not Provided	66443	rs267607512	GRCh37: 17:42988605-42988605 GRCh38: 17:44911237-44911237
125	GFAP	NM_002055.5(GFAP):c.1148C>T (p.Thr383Ile)	SNV	Not Provided	66447	rs267607517	GRCh37: 17:42988006-42988006 GRCh38: 17:44910638-44910638
126	GFAP	NM_002055.5(GFAP):c.1154C>T (p.Ser385Phe)	SNV	Not Provided	190361	rs797044590	GRCh37: 17:42988000-42988000 GRCh38: 17:44910632-44910632
127	GFAP	NM_002055.5(GFAP):c.1157A>T (p.Asn386Ile)	SNV	Not Provided	66448	rs61726471	GRCh37: 17:42987997-42987997 GRCh38: 17:44910629-44910629
128	GFAP	NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile)	SNV	Not Provided	66452	rs62635764	GRCh37: 17:42985511-42985511 GRCh38: 17:44908143-44908143
129	GFAP	NM_002055.5(GFAP):c.1049_1050insCTTGCA (p.Tyr349_Gln350insHisLeu)	INSERT	Not Provided	190353	rs797044584	GRCh37: 17:42988681-42988682 GRCh38: 17:44911313-44911314
130	GFAP	NM_002055.5(GFAP):c.1051G>C (p.Asp351His)	SNV	Not Provided	190354	rs797044585	GRCh37: 17:42988680-42988680 GRCh38: 17:44911312-44911312
131	GFAP	NM_002055.5(GFAP):c.1073C>T (p.Ala358Val)	SNV	Not Provided	190355	rs797044586	GRCh37: 17:42988658-42988658 GRCh38: 17:44911290-44911290
132	GFAP	NM_002055.5(GFAP):c.1075C>G (p.Leu359Val)	SNV	Not Provided	66429	rs60825166	GRCh37: 17:42988656-42988656 GRCh38: 17:44911288-44911288
133	GFAP	NM_002055.5(GFAP):c.1076T>C (p.Leu359Pro)	SNV	Not Provided	66430	rs267607511	GRCh37: 17:42988655-42988655 GRCh38: 17:44911287-44911287
134	GFAP	NM_002055.5(GFAP):c.1193C>A (p.Ser398Tyr)	SNV	Not Provided	66453	rs267607508	GRCh37: 17:42985496-42985496 GRCh38: 17:44908128-44908128
135	GFAP	NM_002055.5(GFAP):c.1250A>C (p.Asp417Ala)	SNV	Not Provided	66454	rs267607520	GRCh37: 17:42985439-42985439 GRCh38: 17:44908071-44908071
136	GFAP	NM_002055.5(GFAP):c.1277A>T (p.Gln426Leu)	SNV	Not Provided	66456	rs267607521	GRCh37: 17:42984737-42984737 GRCh38: 17:44907369-44907369
137	GFAP	NM_002055.5(GFAP):c.1171+472G>A	SNV	Not Provided	190367	rs748860341	GRCh37: 17:42987511-42987511 GRCh38: 17:44910143-44910143

UniProtKB/Swiss-Prot genetic disease variations for Alexander Disease:

⁷³ (showing 62, show less)

#	Symbol	AA change	Variation ID	SNP ID
1	GFAP	p.Leu76Phe	VAR_017465	rs57120761
2	GFAP	p.Asn77Tyr	VAR_017466	rs58732244
3	GFAP	p.Arg79Cys	VAR_017467	rs59793293
4	GFAP	p.Arg79His	VAR_017468	rs59285727
5	GFAP	p.Arg88Cys	VAR_017469	rs61622935
6	GFAP	p.Arg88Ser	VAR_017470	rs61622935
7	GFAP	p.Arg239Cys	VAR_017471	rs58064122
8	GFAP	p.Arg239His	VAR_017472	rs59565950
9	GFAP	p.Arg258Pro	VAR_017474	rs61726468
10	GFAP	p.Glu362Asp	VAR_017475	rs121909718
11	GFAP	p.Arg416Trp	VAR_017476	rs121909717
12	GFAP	p.Asp78Glu	VAR_017477	rs121909720
13	GFAP	p.Lys63Gln	VAR_071517	rs60095124
14	GFAP	p.Arg66Gln	VAR_071518	rs797044569
15	GFAP	p.Arg70Gln	VAR_071519	rs267607510
16	GFAP	p.Arg70Trp	VAR_071520	rs60343255
17	GFAP	p.Glu72Lys	VAR_071521	rs267607523
18	GFAP	p.Met73Lys	VAR_071522	rs61060395
19	GFAP	p.Met73Arg	VAR_071523	rs61060395
20	GFAP	p.Met73Thr	VAR_071524	rs61060395
21	GFAP	p.Met74Thr	VAR_071525	rs267607504
22	GFAP	p.Leu76Val	VAR_071526	rs57120761
23	GFAP	p.Asn77Lys	VAR_071527
24	GFAP	p.Asn77Ser	VAR_071528	rs57590980
25	GFAP	p.Asp78Asn	VAR_071529	rs797044571
26	GFAP	p.Arg79Gly	VAR_071530	rs59793293
27	GFAP	p.Arg79Leu	VAR_071531	rs59285727
28	GFAP	p.Arg79Pro	VAR_071532	rs59285727
29	GFAP	p.Tyr83His	VAR_071533	rs267607506
30	GFAP	p.Lys86Glu	VAR_071534	rs797044573
31	GFAP	p.Leu90Pro	VAR_071535	rs59661476
32	GFAP	p.Leu97Pro	VAR_071536	rs59568967
33	GFAP	p.Leu101Pro	VAR_071537	rs267607516
34	GFAP	p.Glu207Lys	VAR_071540	rs267607500
35	GFAP	p.Glu207Gln	VAR_071541	rs267607500
36	GFAP	p.Glu210Lys	VAR_071542	rs57661783
37	GFAP	p.Leu235Pro	VAR_071543	rs60269890
38	GFAP	p.Lys236Thr	VAR_071544	rs267607525
39	GFAP	p.Arg239Leu	VAR_071545	rs59565950
40	GFAP	p.Arg239Pro	VAR_071546	rs59565950
41	GFAP	p.Tyr242Asp	VAR_071547	rs60551555
42	GFAP	p.Ala253Gly	VAR_071548	rs61726470
43	GFAP	p.Tyr257Cys	VAR_071549	rs267607505
44	GFAP	p.Ala267Pro	VAR_071550	rs797044581
45	GFAP	p.Arg276Leu	VAR_071551	rs121909719
46	GFAP	p.Lys279Glu	VAR_071552	rs58536923
47	GFAP	p.Arg330Gly	VAR_071553	rs267607513
48	GFAP	p.Glu332Lys	VAR_071554	rs267607514
49	GFAP	p.Leu352Pro	VAR_071555	rs28932769
50	GFAP	p.Leu359Pro	VAR_071556	rs267607511
51	GFAP	p.Leu359Val	VAR_071557	rs60825166
52	GFAP	p.Ala364Pro	VAR_071558	rs58645997
53	GFAP	p.Tyr366His	VAR_071559	rs58008462
54	GFAP	p.Glu371Gln	VAR_071560	rs267607526
55	GFAP	p.Glu371Val	VAR_071561	rs57815192
56	GFAP	p.Glu373Asp	VAR_071562
57	GFAP	p.Glu373Lys	VAR_071563	rs58075601
58	GFAP	p.Glu373Gln	VAR_071564	rs58075601
59	GFAP	p.Glu374Gly	VAR_071565	rs59628143
60	GFAP	p.Glu374Gln	VAR_071566
61	GFAP	p.Arg376Gly	VAR_071567	rs267607512
62	GFAP	p.Ser385Phe	VAR_071568	rs797044590

Sources

Expression for Alexander Disease

Search GEO for disease gene expression data for Alexander Disease.

Sources

Pathways for Alexander Disease

Pathways related to Alexander Disease according to GeneCards Suite gene sharing:

(showing 11, show less)

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.37	RPS27A MTOR MAPK14 HSPB1 GFAP
2	Neuroscience ³	12.33	SLC1A2 RPS27A HTT GFAP
3	COPI-independent Golgi-to-ER retrograde traffic ⁶⁶ Show member pathways Cell cycle Spindle assembly and chromosome separation ²² Cytoskeleton remodeling Keratin filaments ²² Cytoskeleton remodeling Neurofilaments ²² HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand ⁶⁶	12.25	VIM SYNM PLEC GFAP
4	Selective autophagy ⁶⁶ Show member pathways Aggrephagy ⁶⁶ Autophagy ⁶⁶ Lipophagy ⁶⁶ Macroautophagy ⁶⁶ Pexophagy ⁶⁶	12.19	VIM RPS27A MTOR HDAC6 GFAP
5	Spinal cord injury ⁷⁴	11.71	VIM GFAP CASP3
6	Regulation of degradation of deltaF508 CFTR in CF ²² Show member pathways Regulation of degradation of wt-CFTR ²²	11.54	HSPB1 HDAC6 CRYAA
7	Budding and maturation of HIV virion ⁶⁶ Show member pathways Chaperone Mediated Autophagy ⁶⁶ Endosomal Sorting Complex Required For Transport (ESCRT) ⁶⁶ Late endosomal microautophagy ⁶⁶ Membrane binding and targetting of GAG proteins ⁶⁶ Synthesis And Processing Of GAG, GAGPOL Polyproteins ⁶⁶	11.42	VIM RPS27A HDAC6 GFAP
8	p38 signaling mediated by MAPKAP kinases ⁶¹	10.61	MAPK14 HSPB1
9	ERK pathway in Huntington's disease ⁷⁴	10.58	HTT CASP3
10	Neuroinflammation ⁷⁴	10.36	MTOR MAPK14
11	Amyotrophic lateral sclerosis (ALS) ⁷⁴	10.36	SLC1A2 MAPK14 CASP3

Sources

GO Terms for Alexander Disease

Cellular components related to Alexander Disease according to GeneCards Suite gene sharing:

(showing 5, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	axon	GO:0030424	10	VIM SLC1A2 PLEC HTT HDAC6 CRYAB
2	intermediate filament	GO:0005882	9.92	VIM SYNM PLEC GFAP
3	intermediate filament cytoskeleton	GO:0045111	9.56	VIM SYNM PLEC GFAP
4	astrocyte projection	GO:0097449	9.55	SLC1A2 KCNJ10 GFAP
5	contractile fiber	GO:0043292	8.8	PLEC HSPB1 CRYAB

Biological processes related to Alexander Disease according to GeneCards Suite gene sharing:

(showing 10, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to unfolded protein	GO:0006986	9.95	HSPB3 HSPB2 HSPB1
2	regulation of macroautophagy	GO:0016241	9.91	MTOR HDAC6 CASP3
3	response to amino acid	GO:0043200	9.8	CASP3 MTOR SLC1A2
4	regulation of protein phosphorylation	GO:0001932	9.76	MTOR HSPB1 HDAC6
5	D-aspartate import across plasma membrane	GO:0070779	9.71	SLC1A2 GFAP
6	negative regulation of intracellular transport	GO:0032387	9.67	CRYAB CRYAA
7	astrocyte development	GO:0014002	9.63	VIM PLP1 GFAP
8	protein refolding	GO:0042026	9.56	HSPB2 HSPB1 CRYAB CRYAA
9	response to heat	GO:0009408	9.32	MTOR HSPB2 HSPB1 CRYAB CRYAA
10	intermediate filament-based process	GO:0045103	9.26	VIM GFAP

Molecular functions related to Alexander Disease according to GeneCards Suite gene sharing:

(showing 4, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	structural molecule activity	GO:0005198	9.86	PLP1 PLEC CRYAB CRYAA
2	unfolded protein binding	GO:0051082	9.76	HSPB2 HSPB1 CRYAB CRYAA
3	structural constituent of cytoskeleton	GO:0005200	9.56	VIM SYNM PLEC GFAP
4	structural constituent of eye lens	GO:0005212	9.23	VIM HSPB2 CRYAB CRYAA