Generalized Primary Torsion Dystonia

Lawrence Severt, R. Saunders-Pullman

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

Dystonia can be classified by etiology - primary or secondary, distribution, age of onset, and site of onset. This chapter discusses primary dystonia where at least one individual in a family, or a sporadic case, has generalized dystonia that affects the legs and trunk. To date, two genes have been identified which are associated with generalized PTD, DYT1 and DYT6, and a third locus, DYT13, has been determined. DYT1 mutations are responsible for much of generalized PTD, but DYT13 is likely causative for only a small portion. As the DYT6 gene was only recently cloned, the relative contribution of this gene to the generalized PTD is not known. However, it is certain that a portion of generalized PTD is due to genetic factors that have yet to be elucidated.

Original languageEnglish
Title of host publicationEncyclopedia of Movement Disorders
PublisherElsevier Inc.
Pages540-547
Number of pages8
ISBN (Electronic)9780123741059
ISBN (Print)9780123741011
DOIs
StatePublished - 1 Jan 2010
Externally publishedYes

Keywords

  • DYT1
  • DYT13
  • DYT6

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