Article Text

Download PDFPDF
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}humangenetik.med.uni-giessen.de

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. 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.

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Footnotes

  • Competing interests: None declared.