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.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 |
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