期刊
MOVEMENT DISORDERS
卷 26, 期 5, 页码 905-909出版社
WILEY-BLACKWELL
DOI: 10.1002/mds.23593
关键词
dopa-responsive dystonia; restless leg syndrome; migraine; GCH1 duplication; novel mutation
资金
- Department of Health's NIHR Biomedical Research Centres
- Reta Lila Weston Trust for Medical Research
- MRC [MC_G0901330, G0601943, MC_PC_09003] Funding Source: UKRI
- Medical Research Council [G0601943, MC_G0901330, MC_PC_09003] Funding Source: researchfish
Background: Autosomal dominant dopa-responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase-1 gene. Methods: We report a British family that has been followed for more than 20 years in which no mutations were previously identified. Results: Reanalysis of this pedigree detected a duplication of guanosine triphosphate cyclohydrolase-1 exon 2 in affected family members. mRNA analysis showed a mutant transcript with a tandem exon 2 duplication. Four family members developed dopa-responsive dystonia, with onset in their late teens, and subsequently developed restless leg syndrome and migraine. Conclusions: This is the first report of an intragenic guanosine triphosphate cyclohydrolase-1 duplication in a dopa-responsive dystonia family. (C) 2011 Movement Disorder Society
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