SCA8

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Spinocerebellar ataxia type 8 (SCA8) is a slowly progressive, dominantly inherited neurodegenerative disease. SCA8 patients have large CTG repeat expansions in the untranslated antisense RNA of the Kelch-like 1 gene (KLHL1AS), but the precise relationship between this expansion and disease is complex and is still poorly understood.

Original languageEnglish (US)
Title of host publicationEncyclopedia of Movement Disorders
PublisherElsevier Inc.
Pages78-80
Number of pages3
ISBN (Electronic)9780123741059
ISBN (Print)9780123741011
DOIs
StatePublished - Jan 1 2010

Keywords

  • Antisense RNA
  • Ataxia
  • CTG
  • KLHL1
  • KLHL1AS
  • Spinocerebellar ataxia
  • Trinucleotide expansion mutation

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