Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.

ABSTRACT:

Background

GTP cyclohydrolase I (GCH1) mutations are the commonest cause of Dopa-responsive dystonia (DRD). Clinical phenotypes can be broad, even within a single family.

Methods

We present clinical, genetic and functional imaging data on a British kindred in which affected subjects display phenotypes ranging from DRD to Parkinson's disease (PD). Twelve family members were studied. Clinical examination, dopamine transporter (DAT) imaging, and molecular genetic analysis of GCH1 and the commonest known familial PD-related genes were performed.

Results

We have identified a novel missense variant, c.5A > G, p.(Glu2Gly), within the GCH1 gene in affected family members displaying a range of phenotypes. Two affected subjects carrying this variant had abnormal DAT imaging. Th

SUBMITTER: Lewthwaite AJ 

PROVIDER: S-EPMC4379065 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature