THAP1 (DYT6) mutations are a frequent cause of generalized dystonia with prominent spasmodic dysphonia
K Lohmann, SA Schneider, A Djarmati, S Winkler, H Pawlack, J Hagenah, N Brüggemann, S Zittel, T Fuchs, A Rakovic, A Schmidt, HC Jabusch, R Wilcox, VS Kostic, HR Siebner, E Altenmüller, A Münchau, LJ Ozelius, C Klein · Aktuelle Neurologie · 2009 · Heft 10
Bibliografische Angaben
Zusammenfassung
Objective: To evaluate the mutational spectrum of THAP1 in different types of dystonia. Background: DYT6 is a form of primary early-onset torsion dystonia. Unlike in DYT1 dystonia, symptoms seem to frequently involve the cranio-cervical region. Recently, two mutations in the THAP1 gene have been identified. Patients and methods: We comprehensively screened THAP1 by sequence analysis and quantitative real-time PCR in 160 dystonia patients with an early age at onset, generalized dystonia, a positive family history, and/or with facial/laryngeal involvement. Another 160 dystonia patients were tested for the reported…
