Neurology 2000;55:1735-1738
© 2000 American Academy of Neurology
Brief Communications
Dopa-responsive dystonia: Mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa
D. Steinberger, MD,
R. Korinthenberg, MD,
H. Topka, MD,
M. Berghäuser,
R. Wedde,
U. Müller, MD, PhD and
for the German Dystonia Study Group*
From the Institut für Humangenetik (Drs. Steinberger and Müller, M. Berghäuser, and R. Wedde), Justus-Liebig-Universität, Giessen; the Abteilung für Neuropädiatrie und Muskelerkrankungen des Universität-Klinikums (Dr. Korinthenberg), Freiburg; and the Neurologische Klinik der Universität Tuebingen (Dr. Topka), Germany.
Address correspondence and reprint requests to Dr. Ulrich Müller, Institut für Humangenetik, Justus-Liebig-Universität, Schlangenzahl 14, D35392 Giessen, Germany; e-mail: ulrich.mueller{at}humangenetik.med.uni-giessen.de
Analysis of the gene GCH1 in 58 patients with dystonia and a positive response to L-dopa revealed mutations in 30 individuals from 22 families. Thirteen of the mutations observed were familial, three occurred de novo, and inheritance could not be determined in six cases. There was no mutation in the promoter region of GCH1 in any patient. The doses of L-dopa given to members of the two groups were not significantly different.
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