DYT6, Mixed Phenotype Primary Dystonia

R. Saunders-Pullman, M. San Luciano

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

Abstract

DYT6 refers to primary generalized dystonia inherited in an autosomal dominant fashion due to mutations in the newly discovered DYT6 gene, THAP1. While initially described only in Amish-Mennonites, mutations in non-Amish-Mennonite families have been described as well (in press). Unlike DYT1 dystonia, where the GAG deletion is seen across different families, multiple different mutations in the three exon THAP1 gene are responsible for disease. DYT6 dystonia has a mixed age of onset, with the median onset in adolescence, but a range from childhood to middle age. The dystonia is also mixed in site and final distribution. It often involves the arm, and when it generalizes, gait is usually not disabling as in DYT1 dystonia. Speech involvement and cranial dystonia are characteristic features, but are not seen in all cases.

Original languageEnglish
Title of host publicationEncyclopedia of Movement Disorders
PublisherElsevier Inc.
Pages419-422
Number of pages4
ISBN (Electronic)9780123741059
ISBN (Print)9780123741011
DOIs
StatePublished - 1 Jan 2010
Externally publishedYes

Keywords

  • Amish
  • Amish-mennonites
  • Autosomal dominant primary dystonia
  • DYT6
  • THAP-1

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