Article
Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.
Movement disorders : official journal of the Movement Disorder Society - 30 Oct 2010
Zittel Simone, Moll Christian K E, Brüggemann Norbert, Tadic Vera, Hamel Wolfgang, Kasten Meike, Lohmann Katja, Lohnau Thora, Winkler Susen, Gerloff Christian, Schönweiler Rainer, Hagenah Johann, Klein Christine, Münchau Alexander, Schneider Susanne A
Abstract excerpt
The purpose of the study was to delineate clinical and electrophysiological characteristics as well as laryngoscopical and transcranial ultrasound (TCS) findings in THAP1 mutation carriers (MutC). According to recent genetic studies, DYT6 (THAP1) gene mutations are an important cause of primary early-onset dystonia. In contrast to DYT1 mutations, THAP1 mutations are associated with primary early-onset segmental...
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