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

ABSTRACT: 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. A Colombian family with six affected female members was characterized. 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. Det

SUBMITTER: Bernal-Pacheco O 

PROVIDER: S-EPMC3822405 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature