Details of Disease

General Information of Disease (ID: DISEJVJK)

Disease Name Spinocerebellar ataxia type 10
Synonyms spinocerebellar ataxia 10; spinocerebellar ataxia type 10; SCA10
Definition
Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.
Disease Hierarchy
DISTHNDH: Autosomal dominant cerebellar ataxia type IV
DISEJVJK: Spinocerebellar ataxia type 10
Disease Identifiers
MONDO ID
MONDO_0011330
MESH ID
C566874
UMLS CUI
C1963674
OMIM ID
603516
MedGen ID
369786
Orphanet ID
98761
SNOMED CT ID
715754007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
CACNG2 DTRL7OG Limited Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
FXN DEXVHDB Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BEAN1 OT0WLH27 moderate Genetic Variation [3]
TK2 OTS1V4XB moderate Genetic Variation [3]
ANO10 OTG3BNOU Strong Genetic Variation [4]
ATXN10 OTKRDUNN Strong Autosomal dominant [5]
------------------------------------------------------------------------------------

References

1 Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13.Epilepsia. 2000 Jan;41(1):24-7. doi: 10.1111/j.1528-1157.2000.tb01500.x.
2 The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome.PLoS One. 2012;7(6):e38379. doi: 10.1371/journal.pone.0038379. Epub 2012 Jun 19.
3 CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders.RNA Biol. 2011 Jul-Aug;8(4):565-71. doi: 10.4161/rna.8.4.15397. Epub 2011 Jul 1.
4 Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene.Neurocase. 2019 Oct;25(5):195-201. doi: 10.1080/13554794.2019.1655064. Epub 2019 Aug 19.
5 Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. Ann Neurol. 2001 Aug;50(2):234-9. doi: 10.1002/ana.1081.