A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family

@inproceedings{BernalPacheco2013AND,
  title={A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family},
  author={Oscar Bernal-Pacheco and Genko Oyama and Angela Briton and Andrew Singleton and Hubert Henery Fernandez and R. Lobato Rodr{\'i}guez and Irene Andonia C Malaty and Michael S. Okun},
  booktitle={Tremor and other hyperkinetic movements},
  year={2013}
}
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… CONTINUE READING