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

dc.contributor.authorDu Toit, Nicola
dc.contributor.authorVan Coller, Riaan
dc.contributor.authorAnderson, David G.
dc.contributor.authorCarr, Jonathan
dc.contributor.authorBardien, Soraya
dc.date.accessioned2020-03-10T05:38:38Z
dc.date.issued2019-10
dc.description.abstractG2019S 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.departmentNeurologyen_ZA
dc.description.embargo2020-09-06
dc.description.librarianhj2020en_ZA
dc.description.sponsorshipThe 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.urihttps://link.springer.com/journal/10048en_ZA
dc.identifier.citationDu 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.issn1364-6745 (print)
dc.identifier.issn1364-6753 (online)
dc.identifier.other10.1007/s10048-019-00588-z
dc.identifier.urihttp://hdl.handle.net/2263/73692
dc.language.isoenen_ZA
dc.publisherSpringeren_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.subjectParkinson’s disease (PD)en_ZA
dc.subjectLRRK2 geneen_ZA
dc.subjectG2019S mutationen_ZA
dc.subjectPhenotypeen_ZA
dc.subjectSouth African patientsen_ZA
dc.subject.otherHealth sciences articles SDG-03
dc.subject.otherSDG-03: Good health and well-being
dc.titleFrequency of the LRRK2 G2019S mutation in South African patients with Parkinson’s diseaseen_ZA
dc.typePostprint Articleen_ZA

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