Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort.

ABSTRACT:

Importance

Numerically, the most important genetic risk factor for the development of Parkinson disease (PD) is the presence of a glucocerebrosidase gene (GBA) mutation.

Objective

To evaluate longitudinally and clinically a GBA mutation-positive cohort and the evolution of the prodromal features of PD.

Design, setting, and participants

Participants in a study of the etiology and prodrome of PD were reevaluated in this clinic-based 2-year follow-up report. Patients with type 1 Gaucher disease (GD) and heterozygous GBA mutation carriers were recruited in 2010 from the Lysosomal Storage Disorder Unit at the Royal Free Hospital, London, England. Thirty patients who previously received a diagnosis of type 1 GD, 28 heterozygous GBA mutation carriers, and 26 genetically unre

SUBMITTER: Beavan M 

PROVIDER: S-EPMC4326672 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature