title: A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family.
abstract: BACKGROUND
  DYT-5 dystonia usually presents as a dopa-responsive dystonia (DRD) with early or late parkinsonian manifestations and/or dystonic features. Genetically, these patients have been described as having a wide array of independent mutations in the guanosine triphosphate cyclohydrolase 1 gene (GCH1), and these patients may also have a wide array of clinical manifestations.
  
  
  METHODS
  A Colombian family with six affected female members was characterized.
  
  
  RESULTS
  Three members, including the index case, revealed mild parkinsonism, whereas three granddaughters of the index case showed severe generalized dystonia. No men were affected. There was anticipation, and a female predominance was uncovered. Treatment with levodopa was generally effective except in a case with severe skeletal deformities and contractions. Detailed genetic analysis in the index case revealed a new mutation in exon 1 of GCH1 (c.159delG).
  
  
  CONCLUSIONS
  This study revealed a new mutation of GCH1 that resulted in heterogeneous clinical presentations of DRD within a large family.
authors.affiliation: Departments of Neurology, and Neurosurgery, University of Florida, Center for Movement Disorders & Neurorestoration, Gainesville, FL, USA ; Military Central Hospital, Bogota, Colombia.
authors.forename: Oscar
authors.initials: O
authors.lastname: Bernal-Pacheco
authors.forename: Genko
authors.initials: G
authors.lastname: Oyama
authors.forename: Angela
authors.initials: A
authors.lastname: Briton
authors.forename: Andrew B
authors.initials: AB
authors.lastname: Singleton
authors.forename: Hubert H
authors.initials: HH
authors.lastname: Fernandez
authors.forename: Ramon L
authors.initials: RL
authors.lastname: Rodriguez
authors.forename: Irene A
authors.initials: IA
authors.lastname: Malaty
authors.forename: Michael S
authors.initials: MS
authors.lastname: Okun
keywords: DRD, dopamine; Parkinson's disease; dystonia, genetics