The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

ABSTRACT:

Background

Mutations in the glucocerebrosidase gene (GBA) result in Gaucher disease and can be associated with a phenotype characterized by adult-onset progressive neurologic deterioration and parkinsonism.

Objective

To define the clinical and neurologic spectrum of parkinsonian manifestations associated with GBA mutations. Design, Setting, and Patients A prospective case series of 10 patients (7 men and 3 women) with parkinsonism and GBA mutations evaluated at the National Institutes of Health Clinical Center.

Main outcome measures

The GBA genotypes were identified by means of DNA sequencing. Tests evaluating neurologic, motor, cognitive, ocular, and olfactory functions were performed and the results were analyzed by a single team.

Results

Genotyping identifie

SUBMITTER: Goker-Alpan O 

PROVIDER: S-EPMC2629407 | biostudies-literature | 2008 Oct

REPOSITORIES: biostudies-literature