MCID: SPN049
MIFTS: 51

Spinocerebellar Ataxia malady

Summaries for Spinocerebellar Ataxia

About this section
Sources:
8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 46OMIM, 56SNOMED-CT, 39NCIt
See all sources

Aliases & Descriptions:

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


Related Diseases for Spinocerebellar Ataxia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM
See all sources

Drugs & Therapeutics for Spinocerebellar Ataxia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section

Anatomical Context for Spinocerebellar Ataxia

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Spinocerebellar Ataxia:

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

Animal Models for Spinocerebellar Ataxia or affiliated genes

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Spinocerebellar Ataxia:

(show top 50)    (show all 926)
idTitleAuthorsYear
1
Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology. (22915085)
2013
2
Purkinje cell loss is the major brain pathology of spinocerebellar ataxia type 10. (23813740)
2013
3
Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13. (23912307)
2013
4
Reply to: Cognitive dysfunction in spinocerebellar ataxia type 3: Variable topographies and patterns. (24338591)
2013
5
Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function. (23982006)
2013
6
Speech in spinocerebellar ataxia. (24182841)
2013
7
"Mimicking" capacity of spinocerebellar ataxia type 3: the details matter. (23415547)
2013
8
Estimation of survival in spinocerebellar ataxia type 2 Cuban patients. (22758789)
2013
9
Ataxin-3 Protein and RNA Toxicity in Spinocerebellar Ataxia Type 3: Current Insights and Emerging Therapeutic Strategies. (24293103)
2013
10
Analysis of autosomal dominant spinocerebellar ataxia type 1 in an extended family of central India. (23716937)
2012
11
The recognition of facial emotions in spinocerebellar ataxia patients. (21503592)
2011
12
Clinical correlates of olfactory dysfunction in spinocerebellar ataxia type 3. (21367642)
2011
13
Spinocerebellar ataxia type 10: disproportionate cerebellar symptoms among at-risk subjects induced by small amounts of alcohol. (22042193)
2011
14
Cognitive changes in spinocerebellar ataxia type 2. (21712788)
2011
15
Expansions, contractions, and fragility of the spinocerebellar ataxia type 10 pentanucleotide repeat in yeast. (21282659)
2011
16
Clinical and genetic analysis of spinocerebellar ataxia in Mali. (21418439)
2011
17
Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia. (20629122)
2010
18
A neuropathological study at autopsy of early onset spinocerebellar ataxia 6. (20359894)
2010
19
Axonal inclusions in spinocerebellar ataxia type 3. (20635090)
2010
20
Abraham Lincoln did not have type 5 spinocerebellar ataxia. (19841386)
2009
21
Neuro-ophthalmologic features of spinocerebellar ataxia type 7. (19726938)
2009
22
The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions. (19171184)
2009
23
Antisense RNA sequences modulating the ataxin-1 message: molecular model of gene therapy for spinocerebellar ataxia type 1, a dominant-acting unstable trinucleotide repeat disease. (19044200)
2008
24
Spinal cord atrophy in spinocerebellar ataxia type 3 and 6 : impact on clinical disability. (18506570)
2008
25
Antigliadin antibodies in Cuban patients with spinocerebellar ataxia type 2. (17951282)
2008
26
Brain structural damage in spinocerebellar ataxia type 1 : a VBM study. (18438695)
2008
27
Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. (18687887)
2008
28
DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1. (17045754)
2007
29
Spinocerebellar ataxias in infancy: pathogenesis of potassium and calcium channels' diseases, clinical features and therapeutical approach]. (17404565)
2007
30
Spinocerebellar ataxia with ocular motor apraxia and DNA repair. (16961074)
2006
31
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. (15127363)
2004
32
Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports. (14966165)
2004
33
Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. (12757707)
2003
34
Spinocerebellar ataxia type 10 (SCA10): a disease caused by a novel pentanucleotide repeat expansion]. (12235814)
2001
35
Ophthalmological findings in patients with spinocerebellar ataxia type 1 are not correlated with neurological anticipation. (11760030)
2001
36
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2). (10915763)
2000
37
Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type-1. (10752579)
2000
38
Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes. (10945665)
2000
39
Molecular genetic diagnosis of Friedreich's ataxia in a pedigree with apparent autosomal dominant spinocerebellar degeneration. (9886474)
1999
40
CAG trinucleotide mutation detection in patients with hereditary spinocerebellar ataxia]. (10514531)
1999
41
A sporadic case of spinocerebellar ataxia 6 (SCA 6) with large CAG expansion of the CACNL1A4 gene]. (10198907)
1999
42
Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6). (9498057)
1998
43
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. (9536097)
1998
44
Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients. (9106546)
1997
45
Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 (SCA1) gene in schizophrenic patients. (9187671)
1997
46
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. (8896557)
1996
47
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. (7670474)
1995
48
Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. (7897622)
1995
49
Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). (8159181)
1994
50
Trinucleotide repeats in neurologic diseases: an hypothesis concerning the pathogenesis of Huntington's disease, Kennedy's disease, and spinocerebellar ataxia type I. (8190020)
1994

Genetic Variations for Spinocerebellar Ataxia

About this section

Expression for genes affiliated with Spinocerebellar Ataxia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51QIAGEN, 29KEGG
See all sources

Compounds for genes affiliated with Spinocerebellar Ataxia

About this section
Sources:
44Novoseek
See all sources

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spinocerebellar Ataxia

About this section
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
61UMLS via Orphanet