Inherited Isolated Dystonia: Clinical Genetics and Gene Function

Research output: Contribution to journalReview article

17 Scopus citations

Abstract

Isolated inherited dystonia—formerly referred to as primary dystonia—is characterized by abnormal motor functioning of a grossly normal appearing brain. The disease manifests as abnormal involuntary twisting movements. The absence of overt neuropathological lesions, while intriguing, has made it particularly difficult to unravel the pathogenesis of isolated inherited dystonia. The explosion of genetic techology enabling the identification of the causative gene mutations is transforming our understanding of dystonia pathogenesis, as the molecular, cellular and circuit level consequences of these mutations are identified in experimental systems. Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL).

Original languageEnglish (US)
Pages (from-to)807-816
Number of pages10
JournalNeurotherapeutics
Volume11
Issue number4
DOIs
StatePublished - Oct 18 2014
Externally publishedYes

Keywords

  • DYT1 (TOR1A)
  • DYT25 (GNAL)
  • DYT6 (THAP1)
  • Dystonia Pathogenesis
  • Isolated Inherited Dystonia

ASJC Scopus subject areas

  • Pharmacology
  • Clinical Neurology
  • Pharmacology (medical)

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