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Frequency of GCH1 deletions in Dopa-responsive dystonia
  1. Birgit Zirn (birgit.zirn{at}humangenetik.med.uni-giessen.de)
  1. Institut für Humangenetik, Giessen, Germany
    1. Daniela Steinberger (daniela.steinberger{at}bioscientia.de)
    1. Bioscientia, Ingelheim, Germany
      1. Christian Troidl (christian.troidl{at}mpi-bn.mpg.de)
      1. Institut für Humangenetik, Giessen, Germany
        1. Knut Brockmann
        1. Pädiatrie II, Kinderklinik, Göttingen, Germany
          1. Maja von der Hagen
          1. Neuropädiatrie, Dresden, Germany
            1. Christoph Feiner
            1. Neurologische Praxis, Tuttlingen, Germany
              1. Jürgen Henke
              1. Institut für Blutgruppenforschung, Köln, Germany
                1. Ulrich Müller (ulrich.mueller{at}humangenetik.med.uni-giessen.de)
                1. Institut für Humangenetik, Giessen, Germany

                  Abstract

                  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. 50 of these had a sustained response to oral L-Dopa therapy (group1: 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 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 definite diagnosis of DRD (group 1), the frequency of GCH1 deletions was 17% (4/23). We conclude that GCH1 deletion analysis should be incorporated in the routine molecular diagnosis of all DRD patients with sustained response to L-Dopa.

                  • GCH1 gene
                  • DRD
                  • DYT5
                  • Dopa-responsive dystonia
                  • deletion analysis

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