The inherited ataxias

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The inherited ataxias are a heterogeneous group of disorders which share core clinical features of dysfunction and often progressive degeneration of the cerebellum and its related pathways. Cerebellar ataxias may be inherited in an autosomal dominant, or recessive manner, with a minority that result from mutations in the mitochondrial genome and thus show maternal inheritance. The molecular basis of these disorders is increasingly being deciphered, so that, classifying based on genotype lends to better understanding of these disorders than previous ones based on clinical features alone.

Original languageEnglish (US)
Title of host publicationRosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publicationVolume 2
PublisherElsevier
Pages75-97
Number of pages23
ISBN (Electronic)9780128138663
DOIs
StatePublished - Jan 1 2020

Keywords

  • Ataxia
  • CAG repeat
  • Cerebellar ataxia
  • Polyglutamine
  • Repeat expansion

ASJC Scopus subject areas

  • Medicine(all)

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