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Published Online First: 26 September 2007. doi:10.1136/jnnp.2007.128413
Journal of Neurology, Neurosurgery, and Psychiatry 2008;79:183-186
Copyright © 2008 by the BMJ Publishing Group Ltd.
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SHORT REPORTS

Frequency of GCH1 deletions in Dopa-responsive dystonia

B Zirn1, D Steinberger1,2, C Troidl1, K Brockmann3, M von der Hagen4, C Feiner5, L Henke6, U Müller1

1 Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany
2 Bioscientia, Zentrum für Humangenetik, Ingelheim, Germany
3 Pädiatrie II, Universität Göttingen, Göttingen, Germany
4 Neuropädiatrie, Universität Dresden, Dresden, Germany
5 Neurologische Praxis, Tuttlingen, Germany
6 Institut für Blutgruppenforschung LGC GmbH, Köln, Germany

Correspondence to:
Prof Dr Ulrich Müller, Institut für Humangenetik, University of Giessen, Schlangenzahl 14, D-35392 Giessen, Germany; Ulrich.Muller{at}humangenetik.med.uni-giessen.de

We performed a systematic study on the frequency of point mutations and deletions of the gene GCH1 in dopa-responsive dystonia (DRD). A total of 136 dystonia patients were studied. Fifty of these had a sustained response to oral L-Dopa therapy (group 1: definite diagnosis of DRD), whereas the response to L-Dopa was incomplete or not tested in 86 patients (group 2: possible diagnosis of DRD). We found a GCH1 point mutation in 27 patients of group 1 (54%) and in four patients of group 2 (5%). Of these, nine single and one double mutation have not been described before. GCH1 deletions were detected in four patients of group 1 (8%) and in one patient of group 2 (1%). Among GCH1 point-mutation-negative patients with a definite diagnosis of DRD (group 1), the frequency of GCH1 deletions was 17% (4/23). We conclude that GCH1 deletion analysis should be incorporated into the routine molecular diagnosis of all patients with DRD with a sustained response to L-Dopa.






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