Clinical Neurogenetics: Autosomal Dominant Spinocerebellar Ataxia

Vikram G. Shakkottai, Brent L. Fogel

Research output: Contribution to journalReview articlepeer-review

Abstract

The autosomal dominant spinocerebellar ataxias are a diverse and clinically heterogeneous group of disorders characterized by degeneration and dysfunction of the cerebellum and its associated pathways. Clinical and diagnostic evaluation can be challenging because of phenotypic overlap among causes, and a stratified and systematic approach is essential. Recent advances include the identification of additional genes causing dominant genetic ataxia, a better understanding of cellular pathogenesis in several disorders, the generation of new disease models that may stimulate development of new therapies, and the use of new DNA sequencing technologies, including whole-exome sequencing, to improve diagnosis.

Original languageEnglish (US)
Pages (from-to)987-1007
Number of pages21
JournalNeurologic Clinics
Volume31
Issue number4
DOIs
StatePublished - Nov 2013
Externally publishedYes

Keywords

  • Ataxia
  • Autosomal dominant
  • Cerebellum
  • SCA
  • Spinocerebellar

ASJC Scopus subject areas

  • Clinical Neurology

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