SCA
MCID: ATS308
MIFTS: 48

Autosomal Dominant Cerebellar Ataxia (SCA) malady

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Eye diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia

Aliases & Descriptions for Autosomal Dominant Cerebellar Ataxia:

Name: Autosomal Dominant Cerebellar Ataxia 12 50 14
Spinocerebellar Ataxia 12 71 50
Spinocerebellar Ataxias 52 42
Ataxia, Spinocerebellar 69
Adca 50
Sca 50

Classifications:



External Ids:

Disease Ontology 12 DOID:1441
ICD9CM 35 334.3
MeSH 42 D020754
NCIt 47 C82341
SNOMED-CT 64 129609000

Summaries for Autosomal Dominant Cerebellar Ataxia

NIH Rare Diseases : 50 autosomal dominant cerebellar ataxia (adca) is one of the genetic subtypes of hereditary ataxia. although the signs and symptoms vary depending on the specific type, the most common symptom of adca is poor movement coordination (ataxia) especially a jerky, unsteady walking style (gait). coordination of hands and clearness of speech (dysarthria) are also affected.  the area of the brain controlling balance and movement decreases in size (cerebellar atrophy). this can be seen on brain imaging.   the ataxia usually slowly worsens over time.  while the age of onset can vary, the symptoms most commonly begin during adult years. adcas include the autosomal dominant spinocerebellar ataxias (scas), all of the episodic ataxias (eas) and the one dominant type of spastic ataxia (spax1).   mutations or changes in many different genes are known to cause many of the different types of adca, but more genes are still being discovered. inheritance is autosomal dominant . diagnosis of adca is based on clinical history, physical examination, genetic testing, and ruling out other diseases. while there is still no cure, treatment options for specific symptoms may be available, depending on the type and severity of symptoms. management of acda may involve several specialists. last updated: 7/10/2016

MalaCards based summary : Autosomal Dominant Cerebellar Ataxia, also known as spinocerebellar ataxia, is related to spinocerebellar ataxia 13 and spinocerebellar ataxia 7, and has symptoms including ataxia, tonic pupil and nystagmus. An important gene associated with Autosomal Dominant Cerebellar Ataxia is ATXN3 (Ataxin 3), and among its related pathways/superpathways are Akt Signaling and Chks in Checkpoint Regulation. The drugs Clonidine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include testes and brain, and related phenotypes are behavior/neurological and growth/size/body region

Disease Ontology : 12 A hereditary ataxia that has material basis in autosomal dominant inheritance.

Wikipedia : 71 Autosomal dominant cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an... more...

Related Diseases for Autosomal Dominant Cerebellar Ataxia

Diseases in the Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Autosomal Dominant Cerebellar Ataxia
Syne1-Related Autosomal Recessive Cerebellar Ataxia

Diseases related to Autosomal Dominant Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 13 11.7
2 spinocerebellar ataxia 7 11.6
3 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 11.4
4 spinocerebellar ataxia 1 11.3
5 machado-joseph disease 11.3
6 spinocerebellar ataxia 12 11.2
7 spinocerebellar ataxia 10 11.0
8 spinocerebellar ataxia 5 11.0
9 spinocerebellar ataxia 2 11.0
10 spinocerebellar ataxia 14 10.8
11 spinocerebellar ataxia 17 10.8
12 dentatorubro-pallidoluysian atrophy 10.8
13 spinocerebellar ataxia 8 10.8
14 spinocerebellar ataxia 27 10.8
15 spinocerebellar ataxia 11 10.8
16 spinocerebellar ataxia 31 10.8
17 spinocerebellar ataxia 28 10.8
18 spinocerebellar ataxia 15 10.8
19 spinocerebellar ataxia 6 10.8
20 cerebellar ataxia 10.8
21 ataxia 10.8
22 whiplash 10.2 ATXN1 ATXN2 ATXN3
23 narcolepsy 10.2
24 hypocalcemia, autosomal dominant 2 10.2 ATXN3 ATXN7 CACNA1A
25 osteopathia striata with cranial sclerosis 10.1 ATXN1 ATXN3 ATXN7
26 lissencephaly 6, with microcephaly 10.1 ATXN3 ATXN7 CACNA1A PLEKHG4
27 fanconi-bickel syndrome 10.1 KCNC3 TTBK2
28 cystic echinococcosis 10.1 ATXN2 ATXN7
29 retinitis 10.1
30 retinal degeneration 10.1
31 neuropathy 10.1
32 hypogonadotropic hypogonadism 3 with or without anosmia 10.1 ATXN10 ATXN2 PPP2R2B
33 diamond-blackfan anemia 13 10.0 CACNA1A FGF14
34 developmental dysplasia of the hip 1 9.9 ATXN10 ATXN8OS PPP2R2B
35 ciliary dyskinesia, primary, 18 9.9 ATN1 ATXN3 ATXN7 CACNA1A TBP
36 fanconi renotubular syndrome 1 9.9 PRKCG SPTBN2 TTBK2
37 proteus syndrome, somatic 9.9 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
38 hemochromatosis, type 2a 9.9 ATXN2 ATXN3 ATXN8OS TBP
39 spastic paraplegia 50, autosomal recessive 9.9 ATXN3 ATXN7 CACNA1A PLEKHG4 SPTBN2
40 paraplegia 9.8
41 spasticity 9.8
42 spinocerebellar ataxia, autosomal recessive 3 9.8 ATN1 ATXN1 ATXN3 ATXN7 ATXN8OS CACNA1A
43 hypotrichosis 1 9.8 AFG3L2 FGF14 KCNC3 PRKCG TTBK2
44 spinocerebellar ataxia 29, congenital nonprogressive 9.8 ITPR1 KCNC3 SPTBN2
45 chromosome 9p deletion syndrome 9.8 ITPR1 KCNC3 SPTBN2
46 charcot-marie-tooth disease, axonal, type 2l 9.7 ATXN2 ATXN3 ATXN7 CACNA1A ITPR1 TBP
47 epileptic encephalopathy, early infantile, 21 9.7 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
48 holoprosencephaly 9.7 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
49 mucopolysaccharidosis is 9.6 ATN1 ATXN1 ATXN3 ITPR1 TBP
50 hermansky-pudlak syndrome 3 9.5 ATN1 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7

Graphical network of the top 20 diseases related to Autosomal Dominant Cerebellar Ataxia:



Diseases related to Autosomal Dominant Cerebellar Ataxia

Symptoms & Phenotypes for Autosomal Dominant Cerebellar Ataxia

Human phenotypes related to Autosomal Dominant Cerebellar Ataxia:

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 tonic pupil 32 HP:0012074
3 nystagmus 32 HP:0000639
4 spasticity 32 HP:0001257
5 dysarthria 32 HP:0001260
6 gait disturbance 32 HP:0001288
7 behavioral abnormality 32 HP:0000708
8 type ii diabetes mellitus 32 HP:0005978
9 optic atrophy 32 HP:0000648
10 abnormality of retinal pigmentation 32 HP:0007703
11 emphysema 32 HP:0002097
12 reduced tendon reflexes 32 HP:0001315
13 impaired pain sensation 32 HP:0007328
14 vocal cord paralysis 32 HP:0001605
15 cerebellar atrophy 32 HP:0001272
16 external ophthalmoplegia 32 HP:0000544
17 distal amyotrophy 32 HP:0003693

UMLS symptoms related to Autosomal Dominant Cerebellar Ataxia:


ataxia, cerebellar ataxia

MGI Mouse Phenotypes related to Autosomal Dominant Cerebellar Ataxia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A FGF14
2 growth/size/body region MP:0005378 9.73 AFG3L2 ATN1 ATXN1 ATXN2 ATXN7 CACNA1A
3 nervous system MP:0003631 9.47 AFG3L2 ATN1 ATXN1 ATXN2 ATXN3 ATXN7

Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia

Drugs for Autosomal Dominant Cerebellar Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 179)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
3
Amantadine Approved Phase 4 768-94-5 2130
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
6
Citalopram Approved Phase 4 59729-33-8 2771
7
Pioglitazone Approved, Investigational Phase 4,Phase 3 111025-46-8 4829
8
Metformin Approved Phase 4 657-24-9 14219 4091
9 Adrenergic Agents Phase 4
10 Adrenergic Agonists Phase 4
11 Adrenergic alpha-2 Receptor Agonists Phase 4
12 Adrenergic alpha-Agonists Phase 4
13 Analgesics Phase 4,Phase 1,Phase 2
14 Antihypertensive Agents Phase 4,Phase 2
15 Autonomic Agents Phase 4,Phase 3,Early Phase 1
16 Contraceptive Agents Phase 4
17 Estradiol 17 beta-cypionate Phase 4
18 Estradiol 3-benzoate Phase 4
19 Estradiol valerate Phase 4 979-32-8
20 Estrogens Phase 4
21 Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1
22 Hormones Phase 4,Phase 3,Phase 2,Early Phase 1
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Early Phase 1
24 insulin Phase 4
25 Insulin, Globin Zinc Phase 4
26 Mitogens Phase 4
27 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
28 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
29 Polyestradiol phosphate Phase 4
30 Sympatholytics Phase 4
31 Analgesics, Non-Narcotic Phase 4,Phase 1,Phase 2
32 Anti-Infective Agents Phase 4,Phase 3,Phase 2
33 Antiparkinson Agents Phase 4
34 Antiviral Agents Phase 4,Phase 3,Phase 2
35 Dopamine Agents Phase 4
36 Antidepressive Agents Phase 4,Phase 2,Phase 3,Phase 1
37 Antidepressive Agents, Second-Generation Phase 4
38 Cholinergic Agents Phase 4,Phase 2,Phase 3
39 Cholinergic Antagonists Phase 4
40 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
41 Cytochrome P-450 Enzyme Inhibitors Phase 4
42 Dopamine Uptake Inhibitors Phase 4
43 Muscarinic Antagonists Phase 4
44 Neurotransmitter Uptake Inhibitors Phase 4
45 Parasympatholytics Phase 4
46 Psychotropic Drugs Phase 4,Phase 2,Phase 3,Phase 1
47
Serotonin Phase 4 50-67-9 5202
48 Serotonin Agents Phase 4
49 Serotonin Uptake Inhibitors Phase 4
50 Hypoglycemic Agents Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 115)
id Name Status NCT ID Phase
1 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4
2 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4
3 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4
4 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Recruiting NCT02733679 Phase 4
5 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3
6 Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3
7 A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970124 Phase 3
8 A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970137 Phase 3
9 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3
10 A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3
11 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3
12 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3
13 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3
14 Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3
15 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3
16 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3
17 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3
18 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3
19 STEADFAST Long-Term Safety Extension Completed NCT02797080 Phase 3
20 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3
21 Trial in Adult Subjects With Spinocerebellar Ataxia Recruiting NCT02960893 Phase 2, Phase 3
22 An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Recruiting NCT02889302 Phase 3
23 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3
24 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3
25 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2
26 The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph Disease Unknown status NCT02039206 Phase 2
27 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary Ataxia Unknown status NCT01360164 Phase 1, Phase 2
28 Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2
29 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
30 Safety and Tolerability of Lithium in Spinocerebellar Ataxia 2 (SCA2) Completed NCT00998634 Phase 2
31 Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT00863538 Phase 2
32 A Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01004016 Phase 2
33 A Phase II Double Blind Comparative Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01384435 Phase 2
34 Study To Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta in Patients With Machado-Joseph Disease Completed NCT02147886 Phase 2
35 High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration Completed NCT00034242 Phase 2
36 Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2
37 Interferon Gamma-1b in Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2
38 A Study Investigating the Safety and Tolerability of Deferiprone in Patients With Friedreich's Ataxia Completed NCT00530127 Phase 1, Phase 2
39 EPI-743 in Friedreich's Ataxia Point Mutations Completed NCT01962363 Phase 2
40 Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia Completed NCT01016366 Phase 2
41 A Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2
42 A Study Investigating the Long-term Safety and Efficacy of Deferiprone in Patients With Friedreich's Ataxia Completed NCT00897221 Phase 2
43 Efficacy Study of Epoetin Alfa in Friedreich Ataxia Completed NCT01493973 Phase 2
44 Efficacy of Epoetin Alfa in Patients With Friedreich's Ataxia Completed NCT00631202 Phase 2
45 A First in Human Study of RT001 in Patients With Friedreich's Ataxia Completed NCT02445794 Phase 1, Phase 2
46 Idebenone to Treat Friedreich's Ataxia Completed NCT00229632 Phase 2
47 Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia Completed NCT01728064 Phase 2
48 Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia Completed NCT00824512 Phase 2
49 Iron-Chelating Therapy and Friedreich Ataxia Completed NCT00224640 Phase 1, Phase 2
50 Safety and Efficacy Study of A0001 in Subjects With Friedreich's Ataxia Completed NCT01035671 Phase 2

Search NIH Clinical Center for Autosomal Dominant Cerebellar Ataxia

Cochrane evidence based reviews: spinocerebellar ataxias

Genetic Tests for Autosomal Dominant Cerebellar Ataxia

Anatomical Context for Autosomal Dominant Cerebellar Ataxia

MalaCards organs/tissues related to Autosomal Dominant Cerebellar Ataxia:

39
Testes, Brain

Publications for Autosomal Dominant Cerebellar Ataxia

Articles related to Autosomal Dominant Cerebellar Ataxia:

(show top 50) (show all 81)
id Title Authors Year
1
Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy (ADCA-DN) Associated With Progressive Cognitive and Behavioral Deterioration. ( 27869457 )
2016
2
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. ( 27602171 )
2016
3
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. ( 26456284 )
2015
4
Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: a novel entity? ( 24787759 )
2014
5
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. ( 24709307 )
2014
6
IGF-1 in autosomal dominant cerebellar ataxia - open-label trial. ( 26331037 )
2014
7
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. ( 23331413 )
2013
8
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia. ( 22491195 )
2012
9
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. ( 21434874 )
2012
10
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. ( 22328086 )
2012
11
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. ( 21619691 )
2011
12
Prevalence of autosomal dominant cerebellar ataxia in Aomori, the northernmost prefecture of Honshu, Japan. ( 21088341 )
2010
13
Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias. ( 20725928 )
2010
14
Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal. ( 19659750 )
2010
15
The chromosome 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA*): A newly identified degenerative ataxia in Japan showing peculiar morphological changes of the Purkinje cell. ( 20667009 )
2010
16
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. ( 20723845 )
2010
17
Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12. ( 20937954 )
2010
18
Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia: an autopsy case report with some new observations on cerebellar pathology. ( 18627481 )
2009
19
[Copy number variation of trinucleotide repeat in dynamic mutation sites of autosomal dominant cerebellar ataxias related genes]. ( 19953483 )
2009
20
Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia. ( 21686672 )
2009
21
Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan. ( 18855094 )
2009
22
The effect of piracetam on ataxia: clinical observations in a group of autosomal dominant cerebellar ataxia patients. ( 18315783 )
2008
23
Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. ( 18769991 )
2008
24
Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan. ( 17661799 )
2007
25
Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. ( 17611710 )
2007
26
Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia. ( 17702787 )
2007
27
16q-linked autosomal dominant cerebellar ataxia in a Korean family. ( 17539927 )
2007
28
A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano. ( 16614795 )
2006
29
16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study. ( 16780885 )
2006
30
On autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA. ( 16961073 )
2006
31
Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese. ( 17030774 )
2006
32
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. ( 16251216 )
2006
33
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. ( 16001362 )
2005
34
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. ( 15099544 )
2004
35
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. ( 15455264 )
2004
36
Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India. ( 14966163 )
2004
37
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. ( 15306549 )
2004
38
Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families. ( 15480876 )
2004
39
Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan. ( 12624721 )
2003
40
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. ( 14694043 )
2003
41
Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias. ( 12427879 )
2002
42
Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. ( 12384780 )
2002
43
Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore. ( 12485197 )
2002
44
Ocular motility in genetically defined autosomal dominant cerebellar ataxia. ( 11992880 )
2002
45
Autosomal dominant cerebellar ataxia type 1 in a Sudanese family. ( 23978915 )
2002
46
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. ( 11198281 )
2001
47
Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. ( 11284128 )
2001
48
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. ( 11571212 )
2001
49
A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan. ( 11322654 )
2001
50
Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. ( 11448300 )
2001

Variations for Autosomal Dominant Cerebellar Ataxia

Expression for Autosomal Dominant Cerebellar Ataxia

Search GEO for disease gene expression data for Autosomal Dominant Cerebellar Ataxia.

Pathways for Autosomal Dominant Cerebellar Ataxia

Pathways related to Autosomal Dominant Cerebellar Ataxia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 FGF14
2
Show member pathways
12.16 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7
3 11.55 CACNA1A ITPR1 PRKCG
4 11.38 CACNA1A ITPR1 KCNC3 PPP2R2B PRKCG
5 11.21 CACNA1A ITPR1 PRKCG

GO Terms for Autosomal Dominant Cerebellar Ataxia

Cellular components related to Autosomal Dominant Cerebellar Ataxia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.8 ATN1 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7
2 perinuclear region of cytoplasm GO:0048471 9.65 ATN1 ATXN10 ATXN2 ITPR1 PRKCG
3 dendrite GO:0030425 9.62 ATXN10 CACNA1A KCNC3 PRKCG
4 nuclear inclusion body GO:0042405 9.16 ATXN1 ATXN3
5 nuclear matrix GO:0016363 8.92 ATN1 ATXN1 ATXN3 ATXN7

Biological processes related to Autosomal Dominant Cerebellar Ataxia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to pain GO:0048265 8.62 CACNA1A PRKCG

Sources for Autosomal Dominant Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....