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Frequency of GCH1 deletions in Dopa-responsive dystonia
  1. B Zirn1,
  2. D Steinberger1,2,
  3. C Troidl1,
  4. K Brockmann3,
  5. M von der Hagen4,
  6. C Feiner5,
  7. L Henke6,
  8. U Müller1
  1. 1
    Institut für Humangenetik, Justus-Liebig-Universität Giessen, Giessen, Germany
  2. 2
    Bioscientia, Zentrum für Humangenetik, Ingelheim, Germany
  3. 3
    Pädiatrie II, Universität Göttingen, Göttingen, Germany
  4. 4
    Neuropädiatrie, Universität Dresden, Dresden, Germany
  5. 5
    Neurologische Praxis, Tuttlingen, Germany
  6. 6
    Institut für Blutgruppenforschung LGC GmbH, Köln, Germany
  1. Prof Dr Ulrich Müller, Institut für Humangenetik, University of Giessen, Schlangenzahl 14, D-35392 Giessen, Germany; Ulrich.Muller{at}


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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  • Competing interests: None declared.