Article
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
The Lancet. Neurology - 1 May 2009
Djarmati Ana, Schneider Susanne A, Lohmann Katja, Winkler Susen, Pawlack Heike, Hagenah Johann, Brüggemann Norbert, Zittel Simone, Fuchs Tania, Raković Aleksandar, Schmidt Alexander, Jabusch Hans-Christian, Wilcox Robert, Kostić Vladimir S, Siebner Hartwig, Altenmüller Eckart, Münchau Alexander, Ozelius Laurie J, Klein Christine
Abstract excerpt
BACKGROUND: DYT6 is a primary, early-onset torsion dystonia; however, unlike in DYT1 dystonia, the symptoms of DYT6 dystonia frequently involve the craniocervical region. Recently, two mutations in THAP1, the gene that encodes THAP (thanatos-associated protein) domain-containing apoptosis-associated protein 1 (THAP1), have been identified as a cause of DYT6 dystonia. METHODS: We screened THAP1 by sequence...
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