Brief Reports
A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family
Authors:
- Oscar Bernal-PachecoEmail Oscar Bernal-Pacheco
- Genko Oyama
- Angela Briton
- Andrew B. Singleton
- Hubert H. Fernandez
- Ramon L. Rodriguez
- Irene A. Malaty
- Michael S. Okun
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).
Discussion: This study revealed a new mutation of GCH1 that resulted in heterogeneous clinical presentations of DRD within a large family.
- Year: 2013
- Volume: 3
- Page/Article: tre-03-138-4462-2
- DOI: 10.5334/tohm.134
- Submitted on 15 Oct 2012
- Accepted on 9 Sep 2013
- Published on 10 Oct 2013
- Peer Reviewed