MCID: SPN049
MIFTS: 51

Spinocerebellar Ataxia malady

Summaries for Spinocerebellar Ataxia

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 33MalaCards
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Disease Ontology:8 A spinocerebellar degeneration that has material basis in expanded cag triplet repeats resulting in spinal cord and cerebellum degeneration.

MalaCards: Spinocerebellar Ataxia, also known as spinocerebellar ataxias, is related to infantile onset spinocerebellar ataxia and olivopontocerebellar atrophy. An important gene associated with Spinocerebellar Ataxia is ATXN1 (ataxin 1), and among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Dopamine-DARPP32 Feedback onto cAMP Pathway. The compounds glutamine and phosphodiester have been mentioned in the context of this disorder. Affiliated tissues include whole blood, brain and cerebellum, and related mouse phenotypes are behavior/neurological and nervous system.

Wikipedia:64 Spinocerebellar ataxia (SCA) is a progressive, degenerative,genetic disease with multiple types, each of... more...

Description from OMIM:47 608768, 612016, 603516, 604432, 605259 610245, 610246, 607250, 600224, 605361, 606658, 606002, 604326, 183086, 610743, 164400, 607136, 117210, 609307, 606937 more

Aliases & Classifications for Spinocerebellar Ataxia

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH, 47OMIM, 57SNOMED-CT, 40NCIt
See all sources

Aliases & Descriptions:

spinocerebellar ataxia 8 64 43 10
spinocerebellar ataxias 45
ataxia, spinocerebellar 61


Related Diseases for Spinocerebellar Ataxia

Sources:
17GeneCards, 18GeneDecks
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Diseases in the spinocerebellar ataxia type 6 family:

spinocerebellar ataxia spinocerebellar ataxia type 3
spinocerebellar ataxia type 7 spinocerebellar ataxia type 8
spinocerebellar ataxia type 10 spinocerebellar ataxia type 11
spinocerebellar ataxia type 12 spinocerebellar ataxia type 13
spinocerebellar ataxia type 14 spinocerebellar ataxia type 15
spinocerebellar ataxia type 17 spinocerebellar ataxia type 20
spinocerebellar ataxia type 28 spinocerebellar ataxia with axonal neuropathy, autosomal recessive
spinocerebellar ataxia 29 spinocerebellar ataxia 27
spinocerebellar ataxia 34 spinocerebellar ataxia 18
spinocerebellar ataxia 19 spinocerebellar ataxia 21
spinocerebellar ataxia 23 spinocerebellar ataxia 25
spinocerebellar ataxia 26 spinocerebellar ataxia 30
spinocerebellar ataxia 31 spinocerebellar ataxia 4
spinocerebellar ataxia 5 spinocerebellar ataxia 9
spinocerebellar ataxia with dysmorphism spinocerebellar ataxia 32
spinocerebellar ataxia 36 spinocerebellar ataxia 35
spinocerebellar ataxia with altered vertical eye movements

Diseases related to Spinocerebellar Ataxia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 179)
idRelated DiseaseScoreTop Affiliating Genes
1infantile onset spinocerebellar ataxia31.3ATXN8, ATXN8OS
2olivopontocerebellar atrophy31.2ATXN3, ATXN2
3spinocerebellar ataxia type 331.0ATXN3
4spinocerebellar degeneration30.9CACNA1A, ATXN2, ATXN3, ATXN1, TDP1
5hereditary ataxia30.9CACNA1A, PPP2R2B, ATXN2, ATXN7, ATXN3, ATXN1
6spinocerebellar ataxia type 730.8ATXN2, ATXN7
7spinocerebellar ataxia type 1230.8CACNA1A, PPP2R2B, ATXN2, ATXN7, ATXN8OS, ATXN3
8huntington's disease30.8ATXN3, ATXN1, CACNA1A, ATXN7, TBP
9spinocerebellar ataxia type 1730.7ATXN1, TBP, ATXN3, ATXN7, ATXN2, PPP2R2B
10axonal neuropathy30.7TDP1, PLEKHG4
11dentatorubral-pallidoluysian atrophy30.6PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN1, TBP
12friedreich ataxia30.6ATXN1, ATXN8OS, CACNA1A, ATXN2, ATXN3
13dysphagia30.0ATXN1, ATXN3
14ataxia11.5
15machado-joseph disease10.9
16spinocerebellar atrophy10.8
17spinocerebellar ataxia type 610.7
18spinocerebellar ataxia 1910.6
19spinocerebellar ataxia type 1510.6
20spinocerebellar ataxia 410.5
21spinocerebellar ataxia type 1110.5
22spinocerebellar ataxia type 1310.5
23spinocerebellar ataxia type 2010.5
24spinocerebellar ataxia 510.5
25x-linked sideroblastic anemia with ataxia10.5
26spinocerebellar ataxia type 1010.5
27spinocerebellar ataxia type 1410.5
28spinocerebellar ataxia type 2810.5
29spinocerebellar ataxia with axonal neuropathy, autosomal recessive10.5
30spinocerebellar ataxia autosomal recessive 110.5
31spinocerebellar ataxia 1810.5
32spinocerebellar ataxia 2110.5
33spinocerebellar ataxia 2310.5
34spinocerebellar ataxia 3110.5
35spinocerebellar ataxia autosomal recessive 410.5
36parkinson's disease10.5
37episodic ataxia10.5
38spinocerebellar ataxia 2710.5
39spinocerebellar ataxia 2510.5
40spinocerebellar ataxia 3010.5
41brain disease10.4
42spinocerebellar ataxia type 810.4
43spinocerebellar ataxia 2610.4
44spinocerebellar ataxia, autosomal recessive, 1010.4
45dentatorubral atrophy10.4
46childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia10.4
47dent's disease10.4
48spinocerebellar ataxia x-linked type 310.4
49spinocerebellar ataxia x-linked type 410.4
50spinocerebellar ataxia autosomal recessive 310.4

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



Diseases related to spinocerebellar ataxia

Clinical Features for Spinocerebellar Ataxia

Sources:
47OMIM
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Drugs & Therapeutics for Spinocerebellar Ataxia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Spinocerebellar Ataxia

Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia

Search NIH Clinical Center for Spinocerebellar Ataxia

Search CenterWatch for Spinocerebellar Ataxia

Genetic Tests for Spinocerebellar Ataxia

Anatomical Context for Spinocerebellar Ataxia

Sources:
33MalaCards
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MalaCards organs/tissues related to Spinocerebellar Ataxia:

33
Whole blood, Brain, Cerebellum, Retina, Spinal cord, Heart, T cells, Endothelial, Temporal lobe, Cerebellum peduncles, Globus pallidus

Animal Models for Spinocerebellar Ataxia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Spinocerebellar Ataxia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538610.9CACNA1A, SPTBN2, PRKCG, ATXN1, ATXN3, ATXN8OS
2MP:000363110.7CACNA1A, TTBK2, PRKCG, ATXN1, ATXN3, ATXN8OS

Publications for Spinocerebellar Ataxia

Sources:
51PubMed
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Articles related to Spinocerebellar Ataxia:

(show top 50)    (show all 931)
idTitleAuthorsYear
1
Stance instability in spinocerebellar ataxia type 6. (23143967)
2013
2
Progressive cognitive dysfunction in spinocerebellar ataxia type 3. (23736996)
2013
3
Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings. (24339615)
2013
4
Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms. (24116147)
2013
5
Altered GABAergic system in the living brain of a patient with spinocerebellar ataxia type 8. (24162040)
2013
6
Ataxin-3 Protein and RNA Toxicity in Spinocerebellar Ataxia Type 3: Current Insights and Emerging Therapeutic Strategies. (24293103)
2013
7
Origin of the spinocerebellar ataxia type 7 gene mutation in Mexican population. (23828024)
2013
8
Mouse models of spinocerebellar ataxia type 3 (Machado-Joseph disease). (22451301)
2012
9
Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage. (22318346)
2012
10
Spinocerebellar ataxia types 2 and 10: more than a coincidental association?-Reply. (23753686)
2012
11
Cellular protein quality control and the evolution of aggregates in spinocerebellar ataxia type 3 (SCA3). (21916928)
2012
12
Optic atrophy differentially diagnosed as spinocerebellar ataxia from Leber hereditary optic neuropathy by gene mutation analysis. (23206485)
2012
13
Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia. (22520093)
2012
14
Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status. (21372168)
2011
15
A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline. (21382133)
2011
16
Neuromyotonia in a dachshund with clinical and electrophysiological signs of spinocerebellar ataxia. (21967102)
2011
17
Genome-wide analysis of miRNA expression reveals a potential role for miR-144 in brain aging and spinocerebellar ataxia pathogenesis. (20451302)
2011
18
Fatigue in spinocerebellar ataxia: patient self-assessment of an early and disabling symptom. (21403106)
2011
19
Expansions, contractions, and fragility of the spinocerebellar ataxia type 10 pentanucleotide repeat in yeast. (21282659)
2011
20
Spinocerebellar ataxia type 13 mutant potassium channel alters neuronal excitability and causes locomotor deficits in zebrafish. (21543613)
2011
21
14-3-3 proteins and spinocerebellar ataxia type 1: from molecular interaction to human neuropathology. (20155408)
2010
22
High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia. (20334689)
2010
23
Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15. (20589871)
2010
24
Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells. (19041943)
2009
25
Brain structural damage in spinocerebellar ataxia type 2. A voxel-based morphometry study. (18311829)
2008
26
Validating an Ataxia Functional Composite Scale in spinocerebellar ataxia. (18191149)
2008
27
Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy. (18297329)
2008
28
Lentivector-mediated rescue from cerebellar ataxia in a mouse model of spinocerebellar ataxia. (18344973)
2008
29
Periodic alternating nystagmus and periodic alternating skew deviation in spinocerebellar ataxia type 6. (19145126)
2008
30
Spinocerebellar ataxia type 7 presenting as Stargardt's disease. (18080847)
2008
31
The P/Q-type voltage-dependent calcium channel: a therapeutic target in spinocerebellar ataxia type 6. (17489948)
2007
32
Infantile spinocerebellar ataxia type 6: relationship to episodic ataxia type 6. (16638506)
2006
33
Prenatal diagnosis of Machado-Joseph disease/Spinocerebellar Ataxia Type 3 in Taiwan: early detection of expanded ataxin-3. (12938149)
2003
34
D-cycloserine for the treatment of ataxia in spinocerebellar degeneration. (12736088)
2003
35
Task specific focal dystonia: a presentation of spinocerebellar ataxia type 6. (14570846)
2003
36
Proteolytic cleavage and cellular toxicity of the human alpha1A calcium channel in spinocerebellar ataxia type 6. (12676347)
2003
37
Spinocerebellar ataxia type 6 with motor neuron loss: a follow-up autopsy report. (12021959)
2002
38
cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia. (12459258)
2002
39
Ophthalmological findings in patients with spinocerebellar ataxia type 1 are not correlated with neurological anticipation. (11760030)
2001
40
Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot. (11041330)
2000
41
Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type-1. (10752579)
2000
42
A sporadic case of spinocerebellar ataxia 6 (SCA 6) with large CAG expansion of the CACNL1A4 gene]. (10198907)
1999
43
Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls. (9879686)
1998
44
Initial symptoms and mode of neurological progression in spinocerebellar ataxia type 6 (SCA6)]. (9847664)
1998
45
Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. (7573040)
1995
46
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. (8037204)
1994
47
Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus. (8125487)
1994
48
Regional mapping of the gene for autosomal dominant spinocerebellar ataxia (SCA1) by localizing the closely linked D6S89 locus to 6p24.2----p23.05. (1582256)
1992
49
A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-NeuhAouser syndrome). (1906382)
1991
50
Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-NeuhAouser syndrome) (2801777)
1989

Genetic Variations for Spinocerebellar Ataxia

Expression for genes affiliated with Spinocerebellar Ataxia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spinocerebellar Ataxia

Search GEO for disease gene expression data for Spinocerebellar Ataxia.

Pathways for genes affiliated with Spinocerebellar Ataxia

Sources:
52QIAGEN, 30KEGG
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Compounds for genes affiliated with Spinocerebellar Ataxia

Sources:
45Novoseek
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Compounds related to Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamine4510.6TBP, ATXN1, ATXN3, ATXN7, ATXN2, CACNA1A
2phosphodiester4510.6TDP1, TBP
3polyacrylamide4510.4ATXN2, ATXN7, ATXN3, TBP

GO Terms for genes affiliated with Spinocerebellar Ataxia

Sources:
16Gene Ontology
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Cellular components related to Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear matrixGO:01636310.6ATXN1, ATXN3, ATXN7
2nuclear inclusion bodyGO:04240510.3ATXN1, ATXN3

Biological processes related to Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00821911.1TGM6, C10orf2, CACNA1A, ATXN8, ATXN2, ATXN7
2negative regulation of phosphorylationGO:04232610.6ATXN1, ATXN7
3negative regulation of insulin-like growth factor receptor signaling pathwayGO:04356910.5ATXN1, ATXN7
4cerebellar Purkinje cell differentiationGO:02170210.3ATXN2, CACNA1A

Products for genes affiliated with Spinocerebellar Ataxia

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Sources for Spinocerebellar Ataxia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet