Dominant spinocerebellar ataxias: A molecular approach to classification, diagnosis, pathogenesis and the future

Research output: Contribution to journalArticle

Abstract

The capacity to use molecular techniques to establish the genetic diagnoses of the autosomal dominant ataxias has revolutionized the field. It is now possible to systematically classify these disorders according to the nature of the causative mutation, with implications for diagnostic testing, analysis of pathogenesis and therapeutic strategies. Here, the disorders are grouped into ataxias caused by CAG repeat expansions that encode polyglutamine, ataxias caused by mutations in ion channels, ataxias caused by repeat expansions that do not encode polyglutamine, and ataxias caused by point mutations. The clinical, pathological, genetic and pathogenic features of each disorder are considered and the current status and future of diagnosis and therapy are reviewed in light of this classification scheme.

Original languageEnglish (US)
Pages (from-to)715-732
Number of pages18
JournalExpert Review of Molecular Diagnostics
Volume3
Issue number6
DOIs
StatePublished - Nov 2003

Fingerprint

Spinocerebellar Ataxias
Ataxia
Mutation
Ion Channels
Point Mutation
Therapeutics

Keywords

  • Ataxia
  • Cerebellum
  • Classification
  • Dentatorubro-pallidoluysian
  • Diagnosis
  • Expansion
  • Neurodegeneration
  • Repeat
  • SCA
  • Spinocerebellar
  • Trinucleotide

ASJC Scopus subject areas

  • Genetics

Cite this

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abstract = "The capacity to use molecular techniques to establish the genetic diagnoses of the autosomal dominant ataxias has revolutionized the field. It is now possible to systematically classify these disorders according to the nature of the causative mutation, with implications for diagnostic testing, analysis of pathogenesis and therapeutic strategies. Here, the disorders are grouped into ataxias caused by CAG repeat expansions that encode polyglutamine, ataxias caused by mutations in ion channels, ataxias caused by repeat expansions that do not encode polyglutamine, and ataxias caused by point mutations. The clinical, pathological, genetic and pathogenic features of each disorder are considered and the current status and future of diagnosis and therapy are reviewed in light of this classification scheme.",
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