Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.

ABSTRACT:

Objective

To report the study of a multigenerational Swiss family with dopa-responsive dystonia (DRD).

Methods

Clinical investigation was made of available family members, including historical and chart reviews. Subject examinations were video recorded. Genetic analysis included a genome-wide linkage study with microsatellite markers (STR), GTP cyclohydrolase I (GCH1) gene sequencing, and dosage analysis.

Results

We evaluated 32 individuals, of whom 6 were clinically diagnosed with DRD, with childhood-onset progressive foot dystonia, later generalizing, followed by parkinsonism in the two older patients. The response to levodopa was very good. Two additional patients had late onset dopa-responsive parkinsonism. Three other subjects had DRD symptoms on historical groun

SUBMITTER: Wider C 

PROVIDER: S-EPMC2330252 | biostudies-literature | 2008 Apr

REPOSITORIES: biostudies-literature