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Keywords:

  • dopa-responsive dystonia;
  • restless leg syndrome;
  • migraine;
  • GCH1 duplication;
  • novel mutation

Abstract

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