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. 2019 Oct;20(4):215-218.
doi: 10.1007/s10048-019-00588-z. Epub 2019 Sep 6.

Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson's disease

Nicola du Toit  1 , Riaan van Coller  2 , David G Anderson  3 , Jonathan Carr  4 , Soraya Bardien  5
Affiliations

Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson's disease

Nicola du Toit et al. Neurogenetics. 2019 Oct.

Abstract

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.

Keywords: G2019S mutation; LRRK2 gene; Parkinson’s disease; Phenotype; South African patients.

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