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

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.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.title	Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson’s disease	en_ZA
dc.type	Postprint Article	en_ZA