A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease.

ABSTRACT:

Background

The molecular basis of Parkinson's disease in South African population groups remains elusive. To date, substitutions in the GBA gene are the most common large-effect genetic risk factor for Parkinson's disease. The primary objective of this study was to determine the prevalence of GBA substitutions in South Africans with idiopathic Parkinson's disease.

Methods

Participants were recruited from tertiary hospitals in the Gauteng Province in South Africa. All participants were screened for substitutions in GBA exon 8-11 and the full coding region was analysed in 20 participants. Peripheral β-glucocerebrosidase enzymatic activity of GBA-carriers was measured in mixed leukocytes.

Results

Of 105 Caucasian Parkinson's disease par

SUBMITTER: Barkhuizen M 

PROVIDER: S-EPMC5370228 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature