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.
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Molecular Medicine
- Molecular Biology