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- Title
Frequency of GCH1 deletions in Dopa-responsive dystonia.
- Authors
Zirn, B; Steinberger, D; Troidl, C; Brockmann, K; von der Hagen, M; Feiner, C; Henke, L; Müller, U
- 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.
- Publication
Journal of neurology, neurosurgery, and psychiatry, 2008, Vol 79, Issue 2, p183
- ISSN
1468-330X
- Publication type
Journal Article
- DOI
10.1136/jnnp.2007.128413