SCA1
MCID: SPN294
MIFTS: 59

Spinocerebellar Ataxia 1 (SCA1)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 1

MalaCards integrated aliases for Spinocerebellar Ataxia 1:

Name: Spinocerebellar Ataxia 1 58 54 76 30 13 6
Spinocerebellar Ataxia Type 1 12 25 54 26 60 56 15 74
Sca1 58 25 54 26 60 76
Olivopontocerebellar Atrophy I 58 26 76
Schut-Haymaker Type Opca 58 54 76
Menzel Type Opca 58 54 76
Opca1 58 54 76
Opca4 58 54 76
Cerebelloparenchymal Disorder I 58 76
Olivopontocerebellar Atrophy Iv 58 76
Olivopontocerebellar Atrophy 1 54 74
Spinocerebellar Atrophy I 58 26
Opca Iv 58 76
Opca I 58 76
Cpd1 58 76
Olivopontocerebellar Atrophy Iv; Opca4 58
Olivopontocerebellar Atrophy I; Opca1 58
Cerebelloparenchymal Disorder I; Cpd1 58
Cerebelloparenchymal Disorder 1 54
Ataxia, Spinocerebellar, Type 1 41
Olivopontocerebellar Atrophy 4 54
Type 1 Spinocerebellar Ataxia 26
Spinocerebellar Atrophy 1 54

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic anticipation
onset in third or fourth decade
paternal anticipation bias


HPO:

33
spinocerebellar ataxia 1:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance genetic anticipation with paternal anticipation bias


GeneReviews:

25
Penetrance Penetrance is considered to be greater than 95%, but is age dependent. onset after age 60 years has occasionally been reported [sasaki et al 1996, van de warrenburg et al 2004]...

Classifications:



Summaries for Spinocerebellar Ataxia 1

OMIM : 58 The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions (Margolis, 2003). Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al., 2004; Taroni and DiDonato, 2004). Historically, Harding (1982) proposed a clinical classification for autosomal dominant cerebellar ataxias (ADCAs). ADCA I was characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. ADCA III was a pure form of late-onset cerebellar ataxia without additional features. SCA1, SCA2 (183090), and SCA3, or Machado-Joseph disease (109150), are considered to be forms of ADCA I. These 3 disorders are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. SCA7 (607640), caused by a CAG repeat expansion in the ATXN7 gene (607640) on chromosome 3p13-p12, is a form of ADCA II. SCA5 (600224), SCA31 (117210), SCA6 (183086), and SCA11 (600432) are associated with phenotypes most suggestive of ADCA III. However, Schelhaas et al. (2000) noted that there is significant phenotypic overlap between different forms of SCA as well as significant phenotypic variability within each subtype. Classic reviews of olivopontocerebellar atrophies and of inherited ataxias in general include those of Konigsmark and Weiner (1970), who identified 5 types of olivopontocerebellar atrophy, Berciano (1982), Harding (1993), Schelhaas et al. (2000), and Margolis (2003). (164400)

MalaCards based summary : Spinocerebellar Ataxia 1, also known as spinocerebellar ataxia type 1, is related to spinocerebellar ataxia 2 and spinocerebellar ataxia 17, and has symptoms including abnormality of extrapyramidal motor function, dysdiadochokinesis and scanning speech. An important gene associated with Spinocerebellar Ataxia 1 is ATXN1 (Ataxin 1), and among its related pathways/superpathways is Akt Signaling. The drugs tannic acid and Zinc have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are progressive cerebellar ataxia and dysarthria

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has material basis in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.

Genetics Home Reference : 26 Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, learning, and remembering information (cognitive impairment).

NIH Rare Diseases : 54 Spinocerebellar ataxia type 1 (SCA1) is a progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms includes problems with coordination and balance (ataxia), speech and swallowing difficulties, muscle stiffness, and weakness in the muscles that control eye movement. Over time, SCA1 may cause mental impairment, numbness, tingling, or pain in the arms and legs and uncontrolled muscle tensing, wasting, and twitches. SCA1 is caused by changes in the ATXN1 gene and is inherited in an autosomal dominant fashion. There is currently not a cure for SCA1, but treatments are available to help manage symptoms. People with SCA1 typically survive 10 to 30 years after symptoms first appear.

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia 1: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

GeneReviews: NBK1184

Related Diseases for Spinocerebellar Ataxia 1

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 2 31.4 ATXN3 ATXN7 CACNA1A
2 spinocerebellar ataxia 17 31.1 ATN1 ATXN3 ATXN7 CACNA1A
3 dentatorubral-pallidoluysian atrophy 30.0 ATN1 ATXN3 ATXN7 CACNA1A HTT
4 friedreich ataxia 1 29.8 ATXN1 ATXN3 ATXN8OS CACNA1A
5 machado-joseph disease 29.8 ATN1 ATXN1 ATXN3 ATXN7 CACNA1A HTT
6 huntington disease 29.6 ATN1 ATXN1 ATXN3 HTT
7 autosomal dominant cerebellar ataxia 29.4 ATN1 ATXN1 ATXN3 ATXN7 ATXN8OS CACNA1A
8 aceruloplasminemia 29.1 ATXN1 ATXN3 ATXN7 CACNA1A PRKCG
9 spinocerebellar ataxia type 1 with axonal neuropathy 12.3
10 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 11.2
11 spinocerebellar ataxia, autosomal recessive 14 11.2
12 spinocerebellar ataxia 29 11.0
13 spinocerebellar ataxia 34 11.0
14 spinocerebellar ataxia 7 11.0
15 mitochondrial dna depletion syndrome 7 11.0
16 spinocerebellar ataxia 5 11.0
17 spinocerebellar ataxia 10 11.0
18 spinocerebellar ataxia 15 11.0
19 spinocerebellar ataxia 21 11.0
20 spinocerebellar ataxia 20 11.0
21 spinocerebellar ataxia 23 11.0
22 spinocerebellar ataxia 32 11.0
23 spinocerebellar ataxia 36 11.0
24 spinocerebellar ataxia 37 11.0
25 spinocerebellar ataxia 38 11.0
26 spinocerebellar ataxia 42 11.0
27 spinocerebellar ataxia 43 11.0
28 dystonia 10.3
29 amyotrophic lateral sclerosis 1 10.2
30 restless legs syndrome 10.2
31 lateral sclerosis 10.2
32 ataxia and polyneuropathy, adult-onset 10.1
33 schizophrenia 10.1
34 amyloidosis, hereditary, transthyretin-related 10.0
35 dystonia 12 10.0
36 stiff-person syndrome 10.0
37 fragile x syndrome 10.0
38 intermittent claudication 10.0
39 cone dystrophy 10.0
40 cervical dystonia 10.0
41 sarcoma 10.0
42 polyneuropathy 10.0
43 olivopontocerebellar atrophy 10.0
44 pneumothorax 10.0
45 peripheral nervous system disease 10.0
46 muscular atrophy 10.0
47 neuropathy 10.0
48 amyloidosis 10.0
49 episodic ataxia 10.0
50 hereditary transthyretin amyloidosis 10.0

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 1:



Diseases related to Spinocerebellar Ataxia 1

Symptoms & Phenotypes for Spinocerebellar Ataxia 1

Human phenotypes related to Spinocerebellar Ataxia 1:

60 33 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002073
2 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
3 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
4 chorea 60 33 frequent (33%) Frequent (79-30%) HP:0002072
5 slurred speech 60 33 frequent (33%) Frequent (79-30%) HP:0001350
6 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
7 memory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002354
8 bulbar signs 60 33 frequent (33%) Frequent (79-30%) HP:0002483
9 cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0001272
10 bradykinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002067
11 atrophy/degeneration affecting the brainstem 60 33 frequent (33%) Frequent (79-30%) HP:0007366
12 slow saccadic eye movements 60 33 frequent (33%) Frequent (79-30%) HP:0000514
13 abnormal nerve conduction velocity 60 33 frequent (33%) Frequent (79-30%) HP:0040129
14 loss of purkinje cells in the cerebellar vermis 60 33 frequent (33%) Frequent (79-30%) HP:0007001
15 inertia 60 33 frequent (33%) Frequent (79-30%) HP:0030216
16 abnormality of somatosensory evoked potentials 60 33 frequent (33%) Frequent (79-30%) HP:0007377
17 staring gaze 60 33 frequent (33%) Frequent (79-30%) HP:0025401
18 upgaze palsy 60 33 frequent (33%) Frequent (79-30%) HP:0025331
19 abnormal flash visual evoked potentials 60 33 frequent (33%) Frequent (79-30%) HP:0007928
20 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
21 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
22 skeletal muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003202
23 gait imbalance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002141
24 impaired proprioception 60 33 occasional (7.5%) Occasional (29-5%) HP:0010831
25 dysmetria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001310
26 ophthalmoparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000597
27 respiratory failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0002878
28 fasciculations 60 33 occasional (7.5%) Occasional (29-5%) HP:0002380
29 dysdiadochokinesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002075
30 hyporeflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001265
31 postural tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0002174
32 generalized hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001290
33 hyperactive deep tendon reflexes 60 33 occasional (7.5%) Occasional (29-5%) HP:0006801
34 abnormality of masticatory muscle 60 33 occasional (7.5%) Occasional (29-5%) HP:0410011
35 hypermetric saccades 60 33 occasional (7.5%) Occasional (29-5%) HP:0007338
36 decreased motor nerve conduction velocity 33 very rare (1%) HP:0003431
37 decreased sensory nerve conduction velocity 33 very rare (1%) HP:0003448
38 decreased amplitude of sensory action potentials 33 very rare (1%) HP:0007078
39 cognitive impairment 60 33 Frequent (79-30%) HP:0100543
40 abnormality of eye movement 60 Frequent (79-30%)
41 muscular hypotonia 33 HP:0001252
42 spasticity 33 HP:0001257
43 gait disturbance 60 Frequent (79-30%)
44 hyperreflexia 33 HP:0001347
45 peripheral neuropathy 60 Very frequent (99-80%)
46 limb ataxia 33 HP:0002070
47 babinski sign 33 HP:0003487
48 urinary bladder sphincter dysfunction 33 HP:0002839
49 areflexia 33 HP:0001284
50 abnormality of extrapyramidal motor function 33 HP:0002071

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
dysarthria
dysphagia
chorea
limb ataxia
more
Head And Neck Eyes:
optic atrophy
supranuclear ophthalmoplegia
gaze-evoked nystagmus
dysmetric saccades
impaired horizontal smooth pursuit
more
Genitourinary Bladder:
sphincter disturbances

Abdomen Gastrointestinal:
dysphagia

Neurologic Peripheral Nervous System:
peripheral neuropathy
decreased vibration sense
distal muscle atrophy

Clinical features from OMIM:

164400

UMLS symptoms related to Spinocerebellar Ataxia 1:


abnormality of extrapyramidal motor function, dysdiadochokinesis, scanning speech, muscle spasticity, ataxia, truncal, abnormal pyramidal signs

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 AR ATN1 ATXN1 ATXN1L ATXN3 ATXN7
2 nervous system MP:0003631 9.36 AR ATN1 ATXN1 ATXN1L ATXN3 ATXN7

Drugs & Therapeutics for Spinocerebellar Ataxia 1

Drugs for Spinocerebellar Ataxia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4,Not Applicable 1401-55-4
2
Zinc Approved, Investigational Phase 4 7440-66-6 32051
3
Benzocaine Approved, Investigational Phase 4,Not Applicable 1994-09-7, 94-09-7 2337
4 Hypoglycemic Agents Phase 4
5 Insulin, Globin Zinc Phase 4
6 insulin Phase 4
7 Insulin, Short-Acting Phase 4
8 Insulin, Long-Acting Phase 4
9
Glutamic Acid Approved, Nutraceutical Phase 3 56-86-0 33032
10
Lithium carbonate Approved Phase 1 554-13-2
11 Central Nervous System Depressants Phase 1
12 Antidepressive Agents Phase 1
13 Antimanic Agents Phase 1
14 Tranquilizing Agents Phase 1
15 Psychotropic Drugs Phase 1
16
Dopamine Approved 62-31-7, 51-61-6 681
17
4-Aminopyridine Approved Not Applicable 504-24-5 1727
18 Dopamine agonists
19 Potassium Channel Blockers Not Applicable

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Tight Glycemic Control Increases Cardiac Stem Cells During Acute Myocardial Infarction Completed NCT00863629 Phase 4 Insulin
2 Troriluzole in Adult Subjects With Spinocerebellar Ataxia Recruiting NCT03701399 Phase 3 troriluzole;Placebos
3 An Open Pilot Trial of BHV-4157 Active, not recruiting NCT03408080 Phase 3 BHV-4157
4 A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells Transplantation Unknown status NCT01489267 Phase 2
5 Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Not yet recruiting NCT03378414 Phase 2
6 Lithium Treatment for Patients With Spinocerebellar Ataxia Type I Completed NCT00683943 Phase 1 Lithium Carbonate
7 RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7 Unknown status NCT01037777
8 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
9 Parkinsonism in Spinocerebellar Ataxia Type 6 Completed NCT01934998
10 Could Tai-chi Help Maintain Balance of Spinocerebellar Ataxia Patients Completed NCT03687190 Not Applicable conventional medicine
11 Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND) Completed NCT02179333
12 Dalfampridine and Gait in Spinocerebellar Ataxias Completed NCT01811706 Not Applicable Dalfampridine;Placebo
13 Clinical Trial Readiness for SCA1 and SCA3 Recruiting NCT03487367
14 The EUROSCA Natural History Study Recruiting NCT02440763
15 Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias Recruiting NCT01060371
16 NIPD on CFTC for Triplet Repeat Diseases Recruiting NCT03087526 Not Applicable
17 Hong Kong Spinocerebellar Ataxias Registry Recruiting NCT03336008
18 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
19 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013 Not Applicable

Search NIH Clinical Center for Spinocerebellar Ataxia 1

Genetic Tests for Spinocerebellar Ataxia 1

Genetic tests related to Spinocerebellar Ataxia 1:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1 30 ATXN1

Anatomical Context for Spinocerebellar Ataxia 1

MalaCards organs/tissues related to Spinocerebellar Ataxia 1:

42
Eye, Spinal Cord, Cerebellum, Skeletal Muscle, Brain, Testes, Endothelial

Publications for Spinocerebellar Ataxia 1

Articles related to Spinocerebellar Ataxia 1:

(show top 50) (show all 187)
# Title Authors Year
1
Intensive Outpatient Treatment of Depression in a Spinocerebellar Ataxia Type 1 Patient. ( 30886755 )
2019
2
Macular degeneration as a common cause of visual loss in spinocerebellar ataxia type 1 (SCA1) patients. ( 30729852 )
2019
3
Self-assembling vascular endothelial growth factor nanoparticles improve function in spinocerebellar ataxia type 1. ( 30649233 )
2019
4
(CAG)n loci as genetic modifiers of age at onset in patients with spinocerebellar ataxia type 1 from mainland China. ( 30891880 )
2019
5
Advance Care Plan and Factors Related to Disease Progression in Patients With Spinocerebellar Ataxia Type 1: A Cross-Sectional Study in Thailand. ( 31088125 )
2019
6
Spinocerebellar Ataxia Type 1: Molecular Mechanisms of Neurodegeneration and Preclinical Studies. ( 29427101 )
2018
7
ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. ( 29526553 )
2018
8
Mutant ataxin1 disrupts cerebellar development in spinocerebellar ataxia type 1. ( 29533923 )
2018
9
Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B. ( 29656178 )
2018
10
Dendritic potassium channel dysfunction may contribute to dendrite degeneration in spinocerebellar ataxia type 1. ( 29847609 )
2018
11
PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in spinocerebellar ataxia type 1. ( 29860311 )
2018
12
Inhibition of NF-κB signaling in IKKβF/F;LysM Cre mice causes motor deficits but does not alter pathogenesis of Spinocerebellar ataxia type 1. ( 29975753 )
2018
13
Astroglia contribute to the pathogenesis of spinocerebellar ataxia Type 1 (SCA1) in a biphasic, stage-of-disease specific manner. ( 30043530 )
2018
14
Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1. ( 30113722 )
2018
15
Molecular pathway analysis towards understanding tissue vulnerability in spinocerebellar ataxia type 1. ( 30507379 )
2018
16
Brain Derived Neurotrophic Factor (BDNF) Delays Onset of Pathogenesis in Transgenic Mouse Model of Spinocerebellar Ataxia Type 1 (SCA1). ( 30718999 )
2018
17
Progressive impairment of cerebellar mGluR signalling and its therapeutic potential for cerebellar ataxia in spinocerebellar ataxia type 1 model mice. ( 27440721 )
2017
18
Identification of early neurodegenerative change in presymptomatic spinocerebellar ataxia type 1: A diffusion tensor imaging study. ( 28073679 )
2017
19
Spinal Cord Damage in Spinocerebellar Ataxia Type 1. ( 28386793 )
2017
20
Developmental YAPdeltaC determines adult pathology in a model of spinocerebellar ataxia type 1. ( 29192206 )
2017
21
Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model. ( 29211771 )
2017
22
Brain Metabolic Changes of Cervical Dystonia with Spinocerebellar Ataxia Type 1 after Botulinum Toxin Therapy. ( 27432104 )
2016
23
Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6. ( 26054379 )
2016
24
Mesenchymal stem cells attenuate peripheral neuronal degeneration in spinocerebellar ataxia type 1 knockin mice. ( 26707550 )
2016
25
Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1. ( 27106293 )
2016
26
Morphological and Functional Attenuation of Degeneration of Peripheral Neurons by Mesenchymal Stem Cell-Conditioned Medium in Spinocerebellar Ataxia Type 1-Knock-in Mice. ( 27140210 )
2016
27
Mitochondrial impairments contribute to Spinocerebellar ataxia type 1 progression and can be ameliorated by the mitochondria-targeted antioxidant MitoQ. ( 27394174 )
2016
28
Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1). ( 27466200 )
2016
29
Writer's cramp in spinocerebellar ataxia Type 1. ( 27695243 )
2016
30
Fusion of Human Fetal Mesenchymal Stem Cells with "Degenerating" Cerebellar Neurons in Spinocerebellar Ataxia Type 1 Model Mice. ( 27802273 )
2016
31
Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1. ( 27895927 )
2016
32
Assessing recovery from neurodegeneration in spinocerebellar ataxia 1: Comparison of in vivo magnetic resonance spectroscopy with motor testing, gene expression and histology. ( 25446943 )
2015
33
Decreased expression of glutamate transporter GLAST in Bergmann glia is associated with the loss of Purkinje neurons in the spinocerebellar ataxia type 1. ( 25255716 )
2015
34
Early activation of microglia and astrocytes in mouse models of spinocerebellar ataxia type 1. ( 25595967 )
2015
35
Long-term oral administration of the NMDA receptor antagonist memantine extends life span in spinocerebellar ataxia type 1 knock-in mice. ( 25725171 )
2015
36
Presenile onset of spinocerebellar ataxia type 1 presenting with conspicuous psychiatric symptoms and widespread anti-expanded polyglutamine antibody- and fused in sarcoma antibody-immunopositive pathology. ( 25920043 )
2015
37
Fatigue is frequent and severe in spinocerebellar ataxia type 1. ( 25943530 )
2015
38
Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy. ( 26490326 )
2015
39
Abnormalities in synaptic dynamics during development in a mouse model of spinocerebellar ataxia type 1. ( 26531852 )
2015
40
Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes. ( 26673892 )
2015
41
Deep brain stimulation of the internal globus pallidus for generalized dystonia associated with spinocerebellar ataxia type 1: a case report. ( 23815390 )
2014
42
Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort. ( 25344417 )
2014
43
Metabolic evidence for cerebral neurodegeneration in spinocerebellar ataxia type 1. ( 24085647 )
2014
44
Mesenchymal stem cells ameliorate cerebellar pathology in a mouse model of spinocerebellar ataxia type 1. ( 24242763 )
2014
45
Broad therapeutic benefit after RNAi expression vector delivery to deep cerebellar nuclei: implications for spinocerebellar ataxia type 1 therapy. ( 24419082 )
2014
46
Profile of extrapyramidal manifestations in 85 patients with spinocerebellar ataxia type 1, 2 and 3. ( 24602359 )
2014
47
Increased catabolic state in spinocerebellar ataxia type 1 patients. ( 24604678 )
2014
48
Beyond the glutamine expansion: influence of posttranslational modifications of ataxin-1 in the pathogenesis of spinocerebellar ataxia type 1. ( 24752589 )
2014
49
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. ( 24780882 )
2014
50
A case of amyotrophic lateral sclerosis with intermediate ATXN-1 CAG repeat expansion in a large family with spinocerebellar ataxia type 1. ( 24916831 )
2014

Variations for Spinocerebellar Ataxia 1

ClinVar genetic disease variations for Spinocerebellar Ataxia 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATXN1 NM_000332.3(ATXN1) NT expansion Pathogenic rs193922926 GRCh37 Chromosome 6, 16327918: 16327920
2 ATXN1 NM_000332.3(ATXN1) NT expansion Pathogenic rs193922926 GRCh38 Chromosome 6, 16327687: 16327689
3 ATXN1 NM_000332.3(ATXN1): c.624_626dupGCA (p.Gln208_His209insGln) duplication Benign/Likely benign rs193922926 GRCh37 Chromosome 6, 16327916: 16327918
4 ATXN1 NM_000332.3(ATXN1): c.624_626dupGCA (p.Gln208_His209insGln) duplication Benign/Likely benign rs193922926 GRCh38 Chromosome 6, 16327685: 16327687
5 ATXN1 NM_000332.3(ATXN1): c.2150C> T (p.Ala717Val) single nucleotide variant Likely benign rs41267702 GRCh37 Chromosome 6, 16306858: 16306858
6 ATXN1 NM_000332.3(ATXN1): c.2150C> T (p.Ala717Val) single nucleotide variant Likely benign rs41267702 GRCh38 Chromosome 6, 16306627: 16306627
7 ATXN1 NM_000332.3(ATXN1): c.638_639insTCA (p.Gln212_Gln213insHis) insertion Benign rs1554138045 GRCh37 Chromosome 6, 16327903: 16327904
8 ATXN1 NM_000332.3(ATXN1): c.638_639insTCA (p.Gln212_Gln213insHis) insertion Benign rs1554138045 GRCh38 Chromosome 6, 16327672: 16327673
9 ATXN1 NM_000332.3(ATXN1): c.672_677dup (p.Gln225_His226insGlnGln) duplication Benign rs751421308 GRCh37 Chromosome 6, 16327865: 16327870
10 ATXN1 NM_000332.3(ATXN1): c.672_677dup (p.Gln225_His226insGlnGln) duplication Benign rs751421308 GRCh38 Chromosome 6, 16327634: 16327639

Expression for Spinocerebellar Ataxia 1

Search GEO for disease gene expression data for Spinocerebellar Ataxia 1.

Pathways for Spinocerebellar Ataxia 1

Pathways related to Spinocerebellar Ataxia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.25 AR ATXN1 ATXN3 ATXN7 HTT PRKCG

GO Terms for Spinocerebellar Ataxia 1

Cellular components related to Spinocerebellar Ataxia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.93 ANP32A AR ATN1 ATXN1 ATXN1L ATXN3
2 dendrite GO:0030425 9.73 ATXN1L CACNA1A HTT PRKCG
3 perinuclear region of cytoplasm GO:0048471 9.72 ANP32A ATN1 CHERP HTT PRKCG
4 nucleoplasm GO:0005654 9.65 ANP32A AR ATN1 ATXN1 ATXN1L ATXN3
5 postsynaptic cytosol GO:0099524 9.4 HTT PRKCG
6 presynaptic cytosol GO:0099523 9.37 HTT PRKCG
7 nuclear inclusion body GO:0042405 9.26 ATXN1 ATXN3
8 nuclear matrix GO:0016363 8.92 ATN1 ATXN1 ATXN3 ATXN7
9 cytoplasm GO:0005737 10.16 ANP32A AR ATN1 ATXN1 ATXN3 CACNA1A

Biological processes related to Spinocerebellar Ataxia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.77 AR ATN1 ATXN1 ATXN1L CIC
2 memory GO:0007613 9.43 ATXN1 ATXN1L CIC
3 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.4 AR HTT
4 learning GO:0007612 9.33 ATXN1 ATXN1L CIC
5 response to pain GO:0048265 9.32 CACNA1A PRKCG
6 social behavior GO:0035176 9.13 ATXN1 ATXN1L CIC
7 lung alveolus development GO:0048286 8.8 ATXN1 ATXN1L CIC

Sources for Spinocerebellar Ataxia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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