Journal
NEUROGENETICS
Volume 20, Issue 4, Pages 215-218Publisher
SPRINGER
DOI: 10.1007/s10048-019-00588-z
Keywords
Parkinson's disease; LRRK2 gene; G2019S mutation; Phenotype; South African patients
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Funding
- National Research Foundation of South Africa [106052]
- South African Medical Research Council
- NRF-DST Centre of Excellence for Biomedical Tuberculosis Research
- South African Medical Research Council Centre for Tuberculosis Research
- Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town
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G2019S in LRRK2 is the most common mutation associated with Parkinson's disease (PD). Highest frequencies are in North African Arabic (30-41%) and Ashkenazi Jewish (6-30%) populations, mostly due to founder effects. Here, we investigated the frequency of G2019S in 647 unrelated South African PD patients from different ancestral origins. It was found in only 1.2% (8/647) of patients. Notably, none of the 91 individuals of African ancestry had G2019S. It was present in 1.9% (3/154) and 1% (5/493) of early- and late-onset cases, respectively. The frequency of G2019S exhibits ethnic-specific differences and warrants further study in sub-Saharan African populations.
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