MCID: SPN049
MIFTS: 56

Spinocerebellar Ataxia malady

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

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Disease Ontology:8 A spinocerebellar degeneration that is characterized by degeneration of the cerebellum leading to loss of muscle coordination.

MalaCards based summary: Spinocerebellar Ataxia, also known as spinocerebellar ataxias, is related to machado-joseph disease 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 cerebellum, brain and eye, and related mouse phenotypes are growth/size/body and behavior/neurological.

Wikipedia:65 Spinocerebellar ataxia (SCA) is a progressive, degenerative,genetic disease with multiple types, each of... more...

Descriptions from OMIM:46 606937, 612016, 117210, 183086, 604326 610246, 604432, 610743, 607136, 164400, 605361, 606002, 603516, 608768, 607250, 609307, 610245, 605259, 606658 more

Aliases & Classifications for Spinocerebellar Ataxia

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Spinocerebellar Ataxia, Aliases & Descriptions:

Name: Spinocerebellar Ataxia 8 65 42 10
Spinocerebellar Ataxias 44
 
Ataxia, Spinocerebellar 62


Classifications:



Related Diseases for Spinocerebellar Ataxia

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Diseases in the Spinocerebellar Ataxia Type 6 family:

Spinocerebellar Ataxia Type 5 spinocerebellar ataxia
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 Type 36
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 9 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 40 Spinocerebellar Ataxia 35

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

(show top 50)    (show all 200)
idRelated DiseaseScoreTop Affiliating Genes
1machado-joseph disease32.0ATXN3
2spinocerebellar ataxia type 732.0ATXN7, ATXN2
3olivopontocerebellar atrophy31.7ATXN3, ATXN1
4huntington's disease31.1ATXN1, ATXN3
5spinocerebellar ataxia type 1730.9ATXN1, ATXN2, ATXN7, ATXN3, PPP2R2B
6multiple system atrophy30.8ATXN1, ATXN3
7kearns-sayre syndrome30.7ATXN7
8spinocerebellar degeneration30.6ATXN2, ATXN1, ATXN3
9friedreich ataxia30.6ATXN8OS, ATXN2, ATXN3, ATXN1
10dysphagia30.4ATXN3, ATXN1
11spinocerebellar ataxia type 1230.4ATXN8OS, ATXN2, ATXN7, ATXN3, PPP2R2B, ATXN1
12dentatorubral-pallidoluysian atrophy30.3ATXN3, ATXN1, PPP2R2B, ATXN7, ATXN2
13hereditary ataxia30.0ATXN2, ATXN7, ATXN3, ATXN1, PPP2R2B
14cerebellar ataxia29.5ATXN10, C10orf2, SPTBN2, PPP2R2B, ATXN3, ATXN7
15ataxia11.6
16spinocerebellar ataxia type 611.1
17spinocerebellar ataxia type 1010.9
18infantile onset spinocerebellar ataxia10.9
19spinocerebellar ataxia type 1410.8
20spinocerebellar ataxia type 810.8
21spinocerebellar ataxia type 510.8
22neuronitis10.8
23spinocerebellar ataxia type 1510.7
24spinocerebellar ataxia type 1310.7
25spinocerebellar ataxia type 2010.7
26spinocerebellar ataxia type 2810.7
27dystonia10.7
28neuropathy10.6
29spinocerebellar ataxia type 1110.6
30x-linked sideroblastic anemia with ataxia10.6
31spinocerebellar ataxia 1910.6
32spinocerebellar ataxia with axonal neuropathy, autosomal recessive10.5
33spinocerebellar ataxia 2110.5
34spinocerebellar ataxia 410.5
35spinocerebellar ataxia autosomal recessive 410.5
36spinocerebellar ataxia type 3610.5
37spinocerebellar ataxia 1810.5
38spinocerebellar ataxia 2310.5
39spinocerebellar ataxia 2510.5
40spinocerebellar ataxia 2710.5
41spinocerebellar ataxia 3110.5
42spinocerebellar ataxia autosomal recessive 110.5
43spinocerebellar ataxia autosomal recessive 710.5
44episodic ataxia10.5
45spinocerebellar ataxia 2610.5
46spinocerebellar ataxia 3010.5
47spinocerebellar ataxia 3410.5
48spinocerebellar ataxia autosomal recessive 810.5
49axonal neuropathy10.5
50retinitis10.5

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



Diseases related to spinocerebellar ataxia

Symptoms for Spinocerebellar Ataxia

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Drugs & Therapeutics for Spinocerebellar Ataxia

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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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MalaCards organs/tissues related to Spinocerebellar Ataxia:

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

Animal Models for Spinocerebellar Ataxia or affiliated genes

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MGI Mouse Phenotypes related to Spinocerebellar Ataxia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.5TTBK2, ATXN2, ATXN7, ATXN1, SPTBN2, ITPR1
2MP:00053867.9SPTBN2, ATXN1, ATXN3, ATXN7, ATXN2, ATXN8OS
3MP:00036317.6SPTBN2, ITPR1, TTBK2, ATXN8OS, ATXN2, ATXN7

Publications for Spinocerebellar Ataxia

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Articles related to Spinocerebellar Ataxia:

(show top 50)    (show all 938)
idTitleAuthorsYear
1
Spectrum of Sleep Disorders in a Patient with Spinocerebellar Ataxia 13. (25406272)
2014
2
Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1. (25354648)
2014
3
Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia. (25267338)
2014
4
Case of infantile onset spinocerebellar ataxia type 5. (22914369)
2013
5
RNAi or overexpression: alternative therapies for Spinocerebellar Ataxia Type 1. (23583610)
2013
6
Stance instability in spinocerebellar ataxia type 6. (23143967)
2013
7
Broad Therapeutic Benefit After RNAi Expression Vector Delivery to Deep Cerebellar Nuclei: Implications for Spinocerebellar Ataxia Type 1 Therapy. (24419082)
2013
8
Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13). (23215817)
2013
9
Instability of syllable repetition in patients with spinocerebellar ataxia and Parkinson's disease. (22109901)
2012
10
The spinocerebellar ataxia-associated gene tau tubulin kinase 2 controls the initiation of ciliogenesis. (23141541)
2012
11
Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila. (21949352)
2012
12
Lisuride reduces involuntary periodic leg movements in spinocerebellar ataxia type 2 patients. (22477456)
2012
13
Machado-Joseph disease and other rare spinocerebellar ataxias. (22411243)
2012
14
Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status. (21372168)
2011
15
Gray and white matter alterations in spinocerebellar ataxia type 7: an in vivo DTI and VBM study. (21147232)
2011
16
An improved polymerase chain reaction method for genetic testing of spinocerebellar ataxia type 3. (22232931)
2011
17
Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels. (20712895)
2010
18
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
19
Responsiveness of different rating instruments in spinocerebellar ataxia patients. (20177122)
2010
20
Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells. (19041943)
2009
21
Molecular mechanism for spinocerebellar ataxias]. (20030201)
2009
22
Molecular analysis of spinocerebellar ataxia trinucleotide repeat behavior in normal individuals of a Brazilian population. (18262566)
2008
23
Transcranial sonography in spinocerebellar ataxia type 2. (18458857)
2008
24
Defective responses to DNA single- and double-strand breaks in spinocerebellar ataxia. (18467193)
2008
25
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
26
Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein. (17853080)
2007
27
Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10. (17420323)
2007
28
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. (16189624)
2005
29
Spinocerebellar ataxia type 15. (15895559)
2005
30
Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging. (16037935)
2005
31
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. (15127363)
2004
32
Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3. (14679302)
2004
33
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. (14571264)
2004
34
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
35
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
36
Presumed rapid eye movement behavior disorder in Machado-Joseph disease (spinocerebellar ataxia type 3). (12465081)
2002
37
Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. (11448300)
2001
38
SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. (11719278)
2001
39
Typical anticipation in type 7 spinocerebellar ataxia]. (11082815)
2000
40
Pontine atrophy in spinocerebellar ataxia type 6. (10601803)
2000
41
Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2. (10525984)
1999
42
Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar ataxia type 1. (9485066)
1998
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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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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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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Sources:
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Compounds related to Spinocerebellar Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1polyacrylamide449.6ATXN2, ATXN7, ATXN3
2glutamine449.1ATXN2, ATXN7, ATXN3, ATXN1

GO Terms for genes affiliated with Spinocerebellar Ataxia

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet