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).

DISCUSSION:

This study revealed a new mutation of GCH1 that resulted in heterogeneous clinical presentations of DRD within a large family.

• Authors: Oscar Bernal-Pacheco, Genko Oyama, Angela Briton, Andrew B Singleton, Hubert H Fernandez, Ramon L Rodriguez, Irene A Malaty, Michael S Okun
• Journal: Tremor and other hyperkinetic movements (New York, N.Y.) (Tremor Other Hyperkinet Mov (N Y)) Vol. 3 ( 2013) ISSN: 2160-8288 [Print] England
• PMID: 24255805 (Publication Type: Journal Article)