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Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: Redefining DYT14 as DYT5

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: Redefining DYT14 as DYT5,10.1212/01.wnl.0000275527.35752.c5,Neurology,C. Wid

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: Redefining DYT14 as DYT5   (Citations: 19)
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C. Wider, S. Melquist, M. Hauf, A. Solida, S. A. Cobb, J. M. Kachergus, J. Gass, K. D. Coon, M. Baker, A. Cannon, D. A. Stephan, D. F. Schorderethttp://academic.research.microsoft.com/io.ashx?type=5&id=5569660&selfId1=0&selfId2=0&maxNumber=12&query=
ABSTRACT Objective: To repor,the study,of a multigenerational Swiss family with dopa-responsive,dystonia (DRD). Methods: Clinical investigation was made of available family members, including historical and chart reviews. Subject examinations,were,video,recorded.,Genetic,analysis,included,a genome- wide linkage study with microsatellite markers (STR), GTP cyclohydrolase I (GCH1) gene sequenc- ing, and dosage analysis. Results: We evaluated 32 individuals, of whom 6 were clinically diagnosed with DRD, with childhood-onset progressive foot dystonia, later generalizing, followed by parkinsonism in the two older patients. The response,to levodopa,was,very good. Two additional,patients,had,late onset dopa-responsive,parkinsonism.,Three other subjects,had,DRD symptoms,on historical grounds. We found suggestive linkage to the previously reported DYT14 locus, which excluded GCH1. However, further study with more stringent criteria for disease status attribution showed linkage
Journal: Neurology , vol. 70, no. Issue 16,P, pp. 1377-1383, 2008
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