MCID: SPN049
MIFTS: 53

Spinocerebellar Ataxia malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Neuronal diseases, Eye diseases, Ear diseases, Skin diseases, Mental diseases, Metabolic diseases categories

Aliases & Classifications for Spinocerebellar Ataxia

About this section

Spinocerebellar Ataxia, Aliases & Descriptions:

Name: Spinocerebellar Ataxia 9 63 41 11
Spinocerebellar Ataxias 43
Ataxia, Spinocerebellar 60
 
Cardiac Arrest 60
Sca 41


Classifications:



External Ids:

Disease Ontology9 DOID:1441
MeSH33 D020754
SNOMED-CT55 129609000
NCIt38 C82341
ICD1025 I46, I46.0

Summaries for Spinocerebellar Ataxia

About this section


NIH Rare Diseases:41 Spinocerebellar ataxia (sca) is a group of inherited conditions that are characterized by degenerative changes of the nervous system (brain and spinal cord). there are many different types of sca; the signs and symptoms vary by type but may include an uncoordinated walk (gait), poor hand-eye coordination, and abnormal speech (dysarthria). depending on the type, sca can be inherited in an autosomal dominant, autosomal recessive, or x-linked manner. treatment is supportive and based on the signs and symptoms present in each person. last updated: 12/2/2014

MalaCards based summary: Spinocerebellar Ataxia, also known as spinocerebellar ataxias, is related to machado-joseph disease and spinocerebellar ataxia 2. 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 drugs epinephrine hydrochloride and atropine and the compounds polyacrylamide and glutamine have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and eye, and related mouse phenotypes are growth/size/body and behavior/neurological.

Disease Ontology:9 A spinocerebellar degeneration that is characterized by degeneration of the cerebellum leading to loss of muscle coordination.

Wikipedia:63 Spinocerebellar ataxia (SCA) or also known as Spinocerebellar atrophy or Spinocerebellar degeneration,... more...

Related Diseases for Spinocerebellar Ataxia

About this section

Diseases in the Spinocerebellar Ataxia family:

Spinocerebellar Ataxia 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia 12 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia, Autosomal Recessive 3 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 5 Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia 2 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 5
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 31
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia 4
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 6 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 36
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia 10
Spinocerebellar Ataxia 19/22 Spinocerebellar Ataxia 9

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

(show top 50)    (show all 194)
idRelated DiseaseScoreTop Affiliating Genes
1machado-joseph disease32.0ATXN3
2spinocerebellar ataxia 231.7ATXN2, ATXN3
3spinocerebellar ataxia 731.6ATXN7, ATXN2
4spinocerebellar ataxia 131.5ATXN3, ATXN1
5ophthalmoplegia31.0ATXN7
6multiple system atrophy30.8ATXN1, ATXN3
7spinocerebellar ataxia 1730.7ATXN1, ATXN2, ATXN7, ATXN3, PPP2R2B
8huntington disease30.7ATXN1, ATXN3
9friedreich ataxia30.4ATXN8OS, ATXN2, ATXN3, ATXN1
10spinocerebellar degeneration30.4ATXN2, ATXN1, ATXN3
11dysphagia30.4ATXN3, ATXN1
12spinocerebellar ataxia 1230.3ATXN8OS, ATXN2, ATXN7, ATXN3, PPP2R2B, ATXN1
13hereditary ataxia29.9ATXN2, ATXN7, ATXN3, ATXN1, PPP2R2B
14dentatorubro-pallidoluysian atrophy29.7ATXN3, ATXN1, PPP2R2B, ATXN7, ATXN2
15cerebellar ataxia29.4ATXN10, C10orf2, SPTBN2, PPP2R2B, ATXN3, ATXN7
16ataxia11.6
17spinocerebellar ataxia 610.8
18mitochondrial dna depletion syndrome 710.8
19neuronitis10.8
20spinocerebellar ataxia 3610.7
21spinocerebellar ataxia 1310.7
22spinocerebellar ataxia 510.7
23spinocerebellar ataxia 810.7
24dystonia10.7
25neuropathy10.7
26spinocerebellar ataxia 1510.6
27spinocerebellar ataxia, autosomal recessive 710.6
28spinocerebellar ataxia 1410.6
29spinocerebellar ataxia 29, congenital nonprogressive10.6
30spinocerebellar ataxia 1010.6
31spinocerebellar ataxia 2310.6
32spinocerebellar ataxia, autosomal recessive with axonal neuropathy10.6
33spinocerebellar ataxia 2110.6
34spinocerebellar ataxia, autosomal recessive 410.6
35spinocerebellar ataxia 3410.6
36spinocerebellar ataxia 2710.6
37spinocerebellar ataxia 1110.6
38spinocerebellar ataxia 3110.6
39spinocerebellar ataxia 410.6
40spinocerebellar ataxia 2810.6
41spinocerebellar ataxia, autosomal recessive 810.5
42spinocerebellar ataxia 1810.5
43spinocerebellar ataxia 2010.5
44x-linked sideroblastic anemia with ataxia10.5
45spinocerebellar ataxia 2510.5
46spinocerebellar ataxia 3010.5
47spinocerebellar ataxia 2610.5
48spinocerebellar ataxia 3510.5
49olivopontocerebellar atrophy10.5
50spinocerebellar ataxia 3710.5

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



Diseases related to spinocerebellar ataxia

Symptoms for Spinocerebellar Ataxia

About this section

Drugs & Therapeutics for Spinocerebellar Ataxia

About this section

Genetic Tests for Spinocerebellar Ataxia

About this section

Anatomical Context for Spinocerebellar Ataxia

About this section

MalaCards organs/tissues related to Spinocerebellar Ataxia:

31
Brain, Cerebellum, Eye, Spinal cord, Testes, Retina, Heart, Endothelial, Temporal lobe, Globus pallidus

Animal Models for Spinocerebellar Ataxia or affiliated genes

About this section

MGI Mouse Phenotypes related to Spinocerebellar Ataxia:

35
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

About this section

Articles related to Spinocerebellar Ataxia:

(show top 50)    (show all 972)
idTitleAuthorsYear
1
Parkinsonism in Spinocerebellar Ataxia. (25866756)
2015
2
Spectrum of Sleep Disorders in a Patient with Spinocerebellar Ataxia 13. (25406272)
2014
3
Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1. (25354648)
2014
4
Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia. (25267338)
2014
5
Case of infantile onset spinocerebellar ataxia type 5. (22914369)
2013
6
RNAi or overexpression: alternative therapies for Spinocerebellar Ataxia Type 1. (23583610)
2013
7
Stance instability in spinocerebellar ataxia type 6. (23143967)
2013
8
Broad Therapeutic Benefit After RNAi Expression Vector Delivery to Deep Cerebellar Nuclei: Implications for Spinocerebellar Ataxia Type 1 Therapy. (24419082)
2013
9
Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13). (23215817)
2013
10
Instability of syllable repetition in patients with spinocerebellar ataxia and Parkinson's disease. (22109901)
2012
11
The spinocerebellar ataxia-associated gene tau tubulin kinase 2 controls the initiation of ciliogenesis. (23141541)
2012
12
Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila. (21949352)
2012
13
Lisuride reduces involuntary periodic leg movements in spinocerebellar ataxia type 2 patients. (22477456)
2012
14
Machado-Joseph disease and other rare spinocerebellar ataxias. (22411243)
2012
15
Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status. (21372168)
2011
16
Gray and white matter alterations in spinocerebellar ataxia type 7: an in vivo DTI and VBM study. (21147232)
2011
17
An improved polymerase chain reaction method for genetic testing of spinocerebellar ataxia type 3. (22232931)
2011
18
Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels. (20712895)
2010
19
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
20
Responsiveness of different rating instruments in spinocerebellar ataxia patients. (20177122)
2010
21
Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells. (19041943)
2009
22
Molecular mechanism for spinocerebellar ataxias]. (20030201)
2009
23
Molecular analysis of spinocerebellar ataxia trinucleotide repeat behavior in normal individuals of a Brazilian population. (18262566)
2008
24
Transcranial sonography in spinocerebellar ataxia type 2. (18458857)
2008
25
Defective responses to DNA single- and double-strand breaks in spinocerebellar ataxia. (18467193)
2008
26
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
27
Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein. (17853080)
2007
28
Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10. (17420323)
2007
29
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. (16189624)
2005
30
Spinocerebellar ataxia type 15. (15895559)
2005
31
Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging. (16037935)
2005
32
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. (15127363)
2004
33
Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3. (14679302)
2004
34
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. (14571264)
2004
35
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
36
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
37
Presumed rapid eye movement behavior disorder in Machado-Joseph disease (spinocerebellar ataxia type 3). (12465081)
2002
38
Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. (11448300)
2001
39
SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. (11719278)
2001
40
Typical anticipation in type 7 spinocerebellar ataxia]. (11082815)
2000
41
Pontine atrophy in spinocerebellar ataxia type 6. (10601803)
2000
42
Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2. (10525984)
1999
43
Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar ataxia type 1. (9485066)
1998
44
Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). (9259274)
1997
45
Heterogeneous expression of neurofilament proteins in forebrain and cerebellum during development: clinical implications for spinocerebellar ataxia. (9439834)
1997
46
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. (7670474)
1995
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

About this section

Expression for genes affiliated with Spinocerebellar Ataxia

About this section
Search GEO for disease gene expression data for Spinocerebellar Ataxia.

Pathways for genes affiliated with Spinocerebellar Ataxia

About this section

Pathways related to Spinocerebellar Ataxia according to GeneCards Suite gene sharing:

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

Compounds for genes affiliated with Spinocerebellar Ataxia

About this section
Sources:
43Novoseek
See all sources

Compounds related to Spinocerebellar Ataxia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1polyacrylamide439.6ATXN2, ATXN7, ATXN3
2glutamine439.1ATXN2, ATXN7, ATXN3, ATXN1

GO Terms for genes affiliated with Spinocerebellar Ataxia

About this section

Cellular components related to Spinocerebellar Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear matrixGO:00163639.7ATXN7, ATXN3, ATXN1

Biological processes related to Spinocerebellar Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microtubule cytoskeleton organizationGO:00002269.9ATXN3, ATXN7
2negative regulation of insulin-like growth factor receptor signaling pathwayGO:00435699.9ATXN7, ATXN1
3negative regulation of phosphorylationGO:00423269.7ATXN7, ATXN1
4cell deathGO:00082196.6ATXN10, ATXN1, SPTBN2, ATXN3, ATXN7, ATXN2

Molecular functions related to Spinocerebellar Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055157.3ITPR1, TTBK2, ATXN2, ATXN7, ATXN3, ATXN10

Products for genes affiliated with Spinocerebellar Ataxia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Spinocerebellar Ataxia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet