title: An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.
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.
authors.affiliation: Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom.
authors.forename: Helen
authors.initials: H
authors.lastname: Ling
authors.forename: James M
authors.initials: JM
authors.lastname: Polke
authors.forename: Mary G
authors.initials: MG
authors.lastname: Sweeney
authors.forename: Andrea
authors.initials: A
authors.lastname: Haworth
authors.forename: Catherine A
authors.initials: CA
authors.lastname: Sandford
authors.forename: Simon J R
authors.initials: SJ
authors.lastname: Heales
authors.forename: Nicholas W
authors.initials: NW
authors.lastname: Wood
authors.forename: Mary B
authors.initials: MB
authors.lastname: Davis
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Lees
mesh_terms: D000328:Adult; D000978:Antiparkinson Agents / Q000009:adverse effects; D004421:Dystonia / Q000139:chemically induced / Q000235:genetics*; D005192:Family Health; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D020131:Genes, Duplicate / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007980:Levodopa / Q000009:adverse effects; D008297:Male; D055815:Young Adult
chemical_list: D000978:Antiparkinson Agents; D007980:Levodopa; D006136:GTP Cyclohydrolase