Ataxin

Puneet Opal*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

This article describes ataxin-1, the protein mutated in the autosomal dominant cerebellar disorder, spinocerebellar ataxia type 1 (SCA1). The specific mutation in SCA1 is a CAG trinucleotide repeat expansion within the coding region of the gene. Thus, SCA1 belongs to the growing family of polyglutamine diseases, all of which affect the nervous system.

Original languageEnglish (US)
Title of host publicationEncyclopedia of Movement Disorders
PublisherElsevier Inc
Pages94-95
Number of pages2
ISBN (Electronic)9780123741059
ISBN (Print)9780123741011
DOIs
StatePublished - Jan 1 2010

Keywords

  • Ataxia
  • Ataxin
  • CAG repeats
  • Cerebellum
  • Genetics
  • Mouse-models
  • Neurodegeneration
  • Polyglutamine disorders
  • Purkinje cell
  • Spinocerebellar ataxia (SCA)

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)

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