Article
Prevalence of THAP1 sequence variants in German patients with primary dystonia.
Movement disorders : official journal of the Movement Disorder Society - 15 Sept 2010
Söhn Anne S, Glöckle Nicola, Doetzer Andrea Duarte, Deuschl Günther, Felbor Ute, Topka Helge R, Schöls Ludger, Riess Olaf, Bauer Peter, Müller Ulrich, Grundmann Kathrin
Abstract excerpt
Primary dystonias are a clinically and genetically heterogeneous group of movement disorders, but only for two of them, i.e., dystonia 1 and dystonia 6, the disease causing gene has been identified. Dystonia 1 is characterized by an early onset and is caused by a mutation in the TOR1A gene. Only recently, mutations in THAP1 have been shown to be the cause of DYT6 dystonia. We analyzed 610 patients with various...
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