MCID: SPN049
MIFTS: 56

Spinocerebellar Ataxia malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases, Skin diseases, Muscle diseases categories
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Summaries for Spinocerebellar Ataxia

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8Disease Ontology, 65Wikipedia, 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 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 is Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling. The compounds polyacrylamide and glutamine have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and testes, and related mouse phenotypes are growth/size/body and behavior/neurological.

Wikipedia:65 There have been up to 60 different types of SCA identified (most are found on autopsy) as there is no... more...

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

Aliases & Classifications for Spinocerebellar Ataxia

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8Disease Ontology, 65Wikipedia, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 62UMLS, 47OMIM, 58SNOMED-CT, 40NCIt, 35MeSH
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Classifications:



Aliases & Descriptions:

spinocerebellar ataxia 8 65 43 10
spinocerebellar ataxias 45
ataxia, spinocerebellar 62


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 18
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 29 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia Type 37

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

(show top 50)    (show all 197)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia type 331.7ATXN3
2spinocerebellar ataxia type 731.6ATXN2, ATXN7
3olivopontocerebellar atrophy31.4ATXN3, ATXN1
4spinocerebellar ataxia type 1731.2ATXN2, ATXN7, ATXN3, ATXN1, PPP2R2B
5spinocerebellar ataxia type 1230.8PPP2R2B, ATXN8OS, ATXN2, ATXN7, ATXN3, ATXN1
6huntington's disease30.8ATXN3, ATXN1
7multiple system atrophy30.7ATXN1, ATXN3
8cerebellar ataxia30.6ITPR1, PPP2R2B, SPTBN2, C10orf2, ATXN10, ATXN3
9dentatorubral-pallidoluysian atrophy30.6PPP2R2B, ATXN1, ATXN3, ATXN7, ATXN2
10friedreich ataxia30.3ATXN8OS, ATXN2, ATXN3, ATXN1
11kearns-sayre syndrome30.2ATXN7
12hereditary ataxia30.2PPP2R2B, ATXN1, ATXN3, ATXN7, ATXN2
13spinocerebellar degeneration30.2ATXN1, ATXN3, ATXN2
14dysphagia30.1ATXN3, ATXN1
15ataxia11.5
16spinocerebellar ataxia type 611.1
17spinocerebellar ataxia type 1010.9
18infantile onset spinocerebellar ataxia10.9
19machado-joseph disease10.9
20spinocerebellar ataxia type 1410.8
21spinocerebellar ataxia type 810.8
22neuronitis10.7
23spinocerebellar ataxia type 1510.7
24spinocerebellar ataxia type 1310.7
25spinocerebellar ataxia type 2010.7
26dystonia10.6
27neuropathy10.6
28spinocerebellar ataxia type 1110.6
29spinocerebellar ataxia type 2810.6
30spinocerebellar ataxia 510.6
31spinocerebellar ataxia with axonal neuropathy, autosomal recessive10.5
32spinocerebellar ataxia 1910.5
33spinocerebellar ataxia 410.5
34x-linked sideroblastic anemia with ataxia10.5
35spinocerebellar ataxia 1810.5
36spinocerebellar ataxia 2110.5
37spinocerebellar ataxia 2310.5
38spinocerebellar ataxia 2710.5
39spinocerebellar ataxia 3110.5
40spinocerebellar ataxia autosomal recessive 410.5
41episodic ataxia10.5
42spinocerebellar ataxia 2510.5
43spinocerebellar ataxia 3010.5
44spinocerebellar ataxia 3410.5
45spinocerebellar ataxia autosomal recessive 110.5
46axonal neuropathy10.4
47spinocerebellar ataxia 2610.4
48spinocerebellar ataxia, autosomal recessive, 1010.4
49spinocerebellar ataxia 3610.4
50parkinson's disease10.4

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



Diseases related to spinocerebellar ataxia

Symptoms for Spinocerebellar Ataxia

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47OMIM
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Drugs & Therapeutics for Spinocerebellar Ataxia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia

Search NIH Clinical Center for Spinocerebellar Ataxia

Genetic Tests for Spinocerebellar Ataxia

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Anatomical Context for Spinocerebellar Ataxia

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33MalaCards
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MalaCards organs/tissues related to Spinocerebellar Ataxia:

33
Brain, Cerebellum, Testes, Spinal cord, Eye, Temporal lobe, Endothelial, Heart, Retina, Globus pallidus

Animal Models for Spinocerebellar Ataxia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Spinocerebellar Ataxia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.5ITPR1, TTBK2, ATXN2, ATXN7, ATXN1, SPTBN2
2MP:00053867.9SPTBN2, ATXN1, ATXN3, ATXN7, ATXN2, ATXN8OS
3MP:00036317.6ITPR1, SPTBN2, ATXN1, ATXN3, ATXN7, ATXN2

Publications for Spinocerebellar Ataxia

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52PubMed
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Articles related to Spinocerebellar Ataxia:

(show top 50)    (show all 900)
idTitleAuthorsYear
1
Case of infantile onset spinocerebellar ataxia type 5. (22914369)
2013
2
RNAi or overexpression: alternative therapies for Spinocerebellar Ataxia Type 1. (23583610)
2013
3
Stance instability in spinocerebellar ataxia type 6. (23143967)
2013
4
Broad Therapeutic Benefit After RNAi Expression Vector Delivery to Deep Cerebellar Nuclei: Implications for Spinocerebellar Ataxia Type 1 Therapy. (24419082)
2013
5
Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13). (23215817)
2013
6
Progressive cognitive dysfunction in spinocerebellar ataxia type 3. (23736996)
2013
7
Instability of syllable repetition in patients with spinocerebellar ataxia and Parkinson's disease. (22109901)
2012
8
The spinocerebellar ataxia-associated gene tau tubulin kinase 2 controls the initiation of ciliogenesis. (23141541)
2012
9
Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila. (21949352)
2012
10
Lisuride reduces involuntary periodic leg movements in spinocerebellar ataxia type 2 patients. (22477456)
2012
11
Machado-Joseph disease and other rare spinocerebellar ataxias. (22411243)
2012
12
Spinocerebellar ataxia type 1. (21827903)
2012
13
Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status. (21372168)
2011
14
Gray and white matter alterations in spinocerebellar ataxia type 7: an in vivo DTI and VBM study. (21147232)
2011
15
An improved polymerase chain reaction method for genetic testing of spinocerebellar ataxia type 3. (22232931)
2011
16
Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels. (20712895)
2010
17
Spinocerebellar ataxia type 6: Systematic patho-anatomical study reveals different phylogenetically defined regions of the cerebellum and neural pathways undergo different evolutions of the degenerative process. (20113406)
2010
18
Responsiveness of different rating instruments in spinocerebellar ataxia patients. (20177122)
2010
19
Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells. (19041943)
2009
20
Molecular mechanism for spinocerebellar ataxias]. (20030201)
2009
21
Molecular analysis of spinocerebellar ataxia trinucleotide repeat behavior in normal individuals of a Brazilian population. (18262566)
2008
22
Transcranial sonography in spinocerebellar ataxia type 2. (18458857)
2008
23
Defective responses to DNA single- and double-strand breaks in spinocerebellar ataxia. (18467193)
2008
24
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
25
Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein. (17853080)
2007
26
Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10. (17420323)
2007
27
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. (16189624)
2005
28
Spinocerebellar ataxia type 15. (15895559)
2005
29
Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging. (16037935)
2005
30
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. (15127363)
2004
31
Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3. (14679302)
2004
32
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. (14571264)
2004
33
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. (12707077)
2003
34
Guidelines for the pathoanatomical examination of the lower brain stem in ingestive and swallowing disorders and its application to a dysphagic spinocerebellar ataxia type 3 patient. (12581335)
2003
35
Presumed rapid eye movement behavior disorder in Machado-Joseph disease (spinocerebellar ataxia type 3). (12465081)
2002
36
Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. (11448300)
2001
37
SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. (11719278)
2001
38
Typical anticipation in type 7 spinocerebellar ataxia]. (11082815)
2000
39
Pontine atrophy in spinocerebellar ataxia type 6. (10601803)
2000
40
Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2. (10525984)
1999
41
Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar ataxia type 1. (9485066)
1998
42
Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). (9259274)
1997
43
Heterogeneous expression of neurofilament proteins in forebrain and cerebellum during development: clinical implications for spinocerebellar ataxia. (9439834)
1997
44
Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions. (8967756)
1996
45
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. (7670474)
1995
46
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. (7874171)
1994
47
Spinocerebellar Ataxia Type 14 (20301573)
1993
48
Spinocerebellar Ataxia Type 7 (20301433)
1993
49
Spinocerebellar Ataxia Type 8 (20301445)
1993
50
Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. (8111382)
1993

Variations for Spinocerebellar Ataxia

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Expression for genes affiliated with Spinocerebellar Ataxia

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2BioGPS, 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

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50PathCards, 60Thomson Reuters, 55Reactome
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Pathways related to Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3ITPR1, PPP2R2B

Compounds for genes affiliated with Spinocerebellar Ataxia

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

idCompoundScoreTop Affiliating Genes
1polyacrylamide459.6ATXN2, ATXN7, ATXN3
2glutamine459.1ATXN2, ATXN7, ATXN3, ATXN1

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:0163639.7ATXN7, ATXN3, ATXN1

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

idNameGO IDScoreTop Affiliating Genes
1microtubule cytoskeleton organizationGO:0002269.9ATXN3, ATXN7
2negative regulation of insulin-like growth factor receptor signaling pathwayGO:0435699.9ATXN7, ATXN1
3negative regulation of phosphorylationGO:0423269.7ATXN7, ATXN1
4cell deathGO:0082196.6ATXN10, ATXN1, SPTBN2, ATXN3, ATXN7, ATXN2

Molecular functions related to Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.3ITPR1, TTBK2, ATXN2, ATXN7, ATXN3, ATXN10

Products for genes affiliated with Spinocerebellar Ataxia

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Sources for Spinocerebellar Ataxia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet