1 Scopus citations

Abstract

Of the syndromes constituting the inherited ataxias, some show autosomal dominant or recessive inheritance, and others are caused by mitochondrial mutations and thus show maternal inheritance. Significant progress has been made in defining the molecular basis of these syndromes, so that a genotype classification now supersedes previous ones based on clinical features alone.

Original languageEnglish (US)
Title of host publicationRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition
PublisherElsevier Inc.
Pages811-832
Number of pages22
ISBN (Print)9780124105294, 9780124105492
DOIs
StatePublished - Nov 13 2014

Keywords

  • Ataxia
  • CAG unstable DNA repeats
  • Episodic ataxias
  • Genotype classification
  • Repeat expansion diseases

ASJC Scopus subject areas

  • Medicine(all)

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    Rosenberg, R. N., & Khemani, P. (2014). The Inherited Ataxias. In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition (pp. 811-832). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-410529-4.00071-1