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

Du Toit, Nicola; Van Coller, Riaan; Anderson, David G.; Carr, Jonathan; Bardien, Soraya

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

dc.contributor.author	Du Toit, Nicola
dc.contributor.author	Van Coller, Riaan
dc.contributor.author	Anderson, David G.
dc.contributor.author	Carr, Jonathan
dc.contributor.author	Bardien, Soraya
dc.date.accessioned	2020-03-10T05:38:38Z
dc.date.issued	2019-10
dc.description.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.	en_ZA
dc.description.department	Neurology	en_ZA
dc.description.embargo	2020-09-06
dc.description.librarian	hj2020	en_ZA
dc.description.librarian	em2025	en
dc.description.sdg	SDG-03: Good health and well-being	en
dc.description.sponsorship	The National Research Foundation of South Africa (Grant Number: 106052) and the South African Medical Research Council (Self-Initiated Research Grant). We also acknowledge the support of the 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.	en_ZA
dc.description.uri	https://link.springer.com/journal/10048	en_ZA
dc.identifier.citation	Du Toit, N., van Coller, R., Anderson, D.G. et al. Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson’s disease. Neurogenetics 20, 215–218 (2019). https://doi.org/10.1007/s10048-019-00588-z.	en_ZA
dc.identifier.issn	1364-6745 (print)
dc.identifier.issn	1364-6753 (online)
dc.identifier.other	10.1007/s10048-019-00588-z
dc.identifier.uri	http://hdl.handle.net/2263/73692
dc.language.iso	en	en_ZA
dc.publisher	Springer	en_ZA
dc.rights	© Springer-Verlag GmbH Germany, part of Springer Nature 2019. The original publication is available at : https://link.springer.com/journal/10048.	en_ZA
dc.subject	Parkinson’s disease (PD)	en_ZA
dc.subject	LRRK2 gene	en_ZA
dc.subject	G2019S mutation	en_ZA
dc.subject	Phenotype	en_ZA
dc.subject	South African patients	en_ZA
dc.subject.other	Health sciences articles SDG-03
dc.subject.other	SDG-03: Good health and well-being
dc.title	Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson’s disease	en_ZA
dc.type	Postprint Article	en_ZA