Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Spinocerebellar ataxia type 8

Orpha number ORPHA98760
Synonym(s) SCA8
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Adulthood
ICD-10
  • G11
OMIM
UMLS
  • C1837454
MeSH
  • C537307
MedDRA -
SNOMED CT -

Summary

Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.

Prevalence is unknown. However, SCA8 accounts for approximately 3% of ADCA cases.

Other features include dysexecutive disorders and commonly psychiatric disorders.

SCA8 is caused by a trinucleotide repeat on 13q21 that produces a polyglutamine expansion in the ataxin 8 gene (ATXN8). SCA8 is thought to result from RNA-mediated neurotoxicity.

Prognosis is relatively good. Disease usually progresses slowly over decades. Life expectancy is not significantly reduced.

Expert reviewer(s)

  • Dr Shinsuke FUJIOKA
  • Dr N WHALEY
  • Dr Zbigniew WSZOLEK

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Summary information
Review article
  • EN (2011)
Clinical genetics review
  • EN (2007)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.