MCID: SPN049
MIFTS: 51

Spinocerebellar Ataxia malady

Summaries for Spinocerebellar Ataxia

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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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 spinocerebellar ataxia type 3 and spinocerebellar ataxia type 7. An important gene associated with Spinocerebellar Ataxia is ATXN1 (ataxin 1), and among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Circadian entrainment. The compounds glutamine and phosphodiester have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and testes, and related mouse phenotypes are behavior/neurological and nervous system.

Wikipedia:63 There have been up to 60 different types of SCA identified (most are found on autopsy) as there is no... more...

Description from OMIM:46 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

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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 46OMIM, 56SNOMED-CT, 39NCIt
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Aliases & Descriptions:

spinocerebellar ataxia 8 63 42 10
spinocerebellar ataxias 44
ataxia, spinocerebellar 60


Related Diseases for Spinocerebellar Ataxia

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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 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 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 35

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

(show top 50)    (show all 183)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia type 331.5ATXN3
2spinocerebellar ataxia type 731.4ATXN2, ATXN7
3infantile onset spinocerebellar ataxia31.2ATXN8, ATXN8OS
4cerebellar ataxia31.2ATXN10, ATXN3, ATXN7, ATXN2, ITPR1, PPP2R2B
5spinocerebellar ataxia type 1731.2ATXN1, TBP, ATXN3, ATXN7, ATXN2, PPP2R2B
6olivopontocerebellar atrophy31.2ATXN3, ATXN2
7spinocerebellar ataxia type 1230.9CACNA1A, PPP2R2B, ATXN2, ATXN7, ATXN8OS, ATXN3
8spinocerebellar degeneration30.9CACNA1A, ATXN2, ATXN3, ATXN1, TDP1
9neuropathy30.9CACNA1A, C10orf2
10hereditary ataxia30.8CACNA1A, PPP2R2B, ATXN2, ATXN7, ATXN3, ATXN1
11huntington's disease30.7ATXN3, ATXN1, CACNA1A, ATXN7, TBP
12dentatorubral-pallidoluysian atrophy30.6PPP2R2B, ATXN2, ATXN3, ATXN10, ATXN1, TBP
13multiple system atrophy30.6ATXN1, ATXN3
14axonal neuropathy30.6TDP1, PLEKHG4
15dementia30.4TBP
16friedreich ataxia30.2ATXN1, ATXN8OS, CACNA1A, ATXN2, ATXN3
17ophthalmoplegia30.2ATXN7
18spinocerebellar ataxia type 611.1
19spinocerebellar ataxia type 1010.9
20machado-joseph disease10.8
21spinocerebellar ataxia type 1410.8
22spinocerebellar ataxia type 810.8
23neuronitis10.7
24spinocerebellar ataxia type 1510.7
25spinocerebellar ataxia type 1310.7
26spinocerebellar ataxia type 2010.6
27spinocerebellar ataxia type 1110.6
28spinocerebellar ataxia type 2810.6
29x-linked sideroblastic anemia with ataxia10.5
30spinocerebellar ataxia with axonal neuropathy, autosomal recessive10.5
31spinocerebellar ataxia 1910.5
32spinocerebellar ataxia 410.5
33spinocerebellar ataxia 510.5
34spinocerebellar ataxia 1810.5
35spinocerebellar ataxia 2110.5
36spinocerebellar ataxia 2310.5
37spinocerebellar ataxia 3110.5
38spinocerebellar ataxia autosomal recessive 410.5
39episodic ataxia10.4
40spinocerebellar ataxia 2710.4
41spinocerebellar ataxia 2510.4
42spinocerebellar ataxia 3010.4
43spinocerebellar ataxia autosomal recessive 110.4
44spinocerebellar ataxia 2610.4
45spinocerebellar ataxia, autosomal recessive, 1010.4
46parkinson's disease10.4
47brain disease10.4
48cerebellar disease10.4
49hypogonadism10.4
50retinitis10.4

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



Diseases related to spinocerebellar ataxia

Clinical Features for Spinocerebellar Ataxia

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46OMIM
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Drugs & Therapeutics for Spinocerebellar Ataxia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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Anatomical Context for Spinocerebellar Ataxia

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32MalaCards
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MalaCards organs/tissues related to Spinocerebellar Ataxia:

32
Brain, Cerebellum, Testes, Spinal cord, Eye, Temporal lobe, Retina, Endothelial, Heart, Globus pallidus

Animal Models for Spinocerebellar Ataxia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Spinocerebellar Ataxia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538610.9ITPR1, ATXN2, ATXN7, ATXN8OS, ATXN3, ATXN1
2MP:000363110.7TDP1, CACNA1A, ITPR1, ATXN2, ATXN7, ATXN8OS

Publications for Spinocerebellar Ataxia

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50PubMed
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Articles related to Spinocerebellar Ataxia:

(show top 50)    (show all 926)
idTitleAuthorsYear
1
Spinal cord stimulation for gait impairment in spinocerebellar ataxia 7. (24390202)
2014
2
Postural dysfunction in a transgenic mouse model of spinocerebellar ataxia type 3. (23567815)
2013
3
Widespread neuronal damage and cognitive dysfunction in spinocerebellar ataxia type 3. (23775343)
2013
4
Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm. (24289098)
2013
5
Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia. (22775398)
2013
6
Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis. (23206699)
2013
7
Spinocerebellar ataxia type 10: from Amerindians to Latin Americans. (24027006)
2013
8
Instability of syllable repetition in patients with spinocerebellar ataxia and Parkinson's disease. (22109901)
2012
9
Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia. (22928142)
2012
10
Spinocerebellar ataxia type 11. (21827911)
2012
11
Spinocerebellar ataxia type 7. (21827908)
2012
12
Identification and quantification of differentially expressed proteins in plasma of spinocerebellar ataxia type 12. (22426495)
2012
13
Depression comorbidity in spinocerebellar ataxia. (21437988)
2011
14
Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions. (21108634)
2011
15
Distinct neurochemical profiles of spinocerebellar ataxias 1, 2, 6, and cerebellar multiple system atrophy. (20838948)
2011
16
Saccadic latency is prolonged in Spinocerebellar Ataxia type 2 and correlates with the frontal-executive dysfunctions. (21481421)
2011
17
Neuropsychological features of patients with spinocerebellar ataxia (SCA) types 1, 2, 3, and 6. (20502998)
2010
18
Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17. (20016963)
2010
19
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. (20667868)
2010
20
Levels of DNAJB family members (HSP40) correlate with disease onset in patients with spinocerebellar ataxia type 3. (20726892)
2010
21
Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan. (20424877)
2010
22
Molecular mechanism for spinocerebellar ataxias]. (20030201)
2009
23
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration. (19625515)
2009
24
A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3). (18312406)
2008
25
Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis. (18499737)
2008
26
The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission. (18940801)
2008
27
Association of spinocerebellar ataxia type 3 and spinocerebellar ataxia type 8 microsatellite expansions: genetic counseling implications. (17987652)
2008
28
Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia. (18363164)
2008
29
A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes. (17344386)
2007
30
Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients. (17149720)
2007
31
Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. (17535104)
2007
32
Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death. (15964845)
2005
33
Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6). (15954136)
2005
34
Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis. (15377695)
2004
35
A case of spinocerebellar ataxia 6 accompanied with schizophrenia]. (15024829)
2004
36
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. (14967767)
2004
37
Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan. (12542511)
2003
38
Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles. (11973625)
2002
39
The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. (11136710)
2001
40
Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds. (11030806)
2000
41
Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. (10556295)
1999
42
Trinucleotide repeat expansion of spinocerebellar ataxia (SCA1) found in a Chinese family. (10374379)
1998
43
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. (8559378)
1996
44
Primary hypogonadism in females with infantile onset spinocerebellar ataxia. (8552218)
1995
45
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. (7874171)
1994
46
Spinocerebellar Ataxia Type 17 (20301611)
1993
47
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. (8358429)
1993
48
A syndrome of early onset spinocerebellar ataxia with optic atrophy, internuclear ophthalmoplegia, dementia, and startle myoclonus in a Sri Lankan family. (1607894)
1992
49
Spinocerebellar ataxia (SCA1) in two large Italian kindreds: evidence in favour of a locus position distal to GLO1 and the HLA cluster. (1675045)
1991
50
Effect of thyrotropin-releasing hormone on ataxia of spinocerebellar degeneration. (6101863)
1980

Genetic Variations for Spinocerebellar Ataxia

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Expression for genes affiliated with Spinocerebellar Ataxia

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

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Pathways for genes affiliated with Spinocerebellar Ataxia

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51QIAGEN, 29KEGG
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Compounds for genes affiliated with Spinocerebellar Ataxia

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44Novoseek
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Compounds related to Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamine4410.6TBP, ATXN1, ATXN3, ATXN7, ATXN2, CACNA1A
2phosphodiester4410.6TDP1, TBP
3polyacrylamide4410.4ATXN2, ATXN7, ATXN3, TBP

GO Terms for genes affiliated with Spinocerebellar Ataxia

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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