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Publication Detail
An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Ling H, Polke JM, Sweeney MG, Haworth A, Sandford CA, Heales SJR, Wood NW, Davis MB, Lees AJ
  • Publication date:
  • Pagination:
    905, 909
  • Journal:
    Movement Disorders
  • Volume:
  • Issue:
  • Status:
  • Print ISSN:
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. © 2011 Movement Disorder Society.
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