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Spinocerebellar ataxia type 6

Orpha number ORPHA98758
Synonym(s) SCA6
Prevalence 1-9 / 100 000
Inheritance Autosomal dominant
Age of onset -
ICD-10
  • G11
ICD-O -
OMIM
UMLS
  • C0752124
MeSH -
MedDRA -
SNOMED CT -

Summary

Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term), most commonly seen in Japan, Korea, the Netherlands and Germany, characterized by late-onset and slowly progressive gait ataxia, cerebellar signs and eye movement problems and caused by mutations in the CACNA1A gene.


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Detailed information

Review article
  • EN (2013)
Clinical genetics review
  • EN (2013)
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