Article
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
Neurology - 9 Mar 2010
Houlden H, Schneider S A, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia K P
Abstract excerpt
BACKGROUND: The clinical phenotype of DYT6 consists mainly of primary craniocervical dystonia. Recently, the THAP1 gene was identified as the cause of DYT6, where a total of 13 mutations have been identified in Amish-Mennonite and European families. METHODS: We sequenced the THAP1 gene in a series of 362 British, genetically undetermined, primary dystonia patients (78 with focal, 186 with segmental, and 98 with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.