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

  • Nicola du Toit
  • Riaan van Coller
  • David G. Anderson
  • Jonathan CarrEmail author
  • Soraya BardienEmail author
Short Communication


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.


Parkinson’s disease LRRK2 gene G2019S mutation Phenotype South African patients 



We thank the patients and their families for their participation in and contribution to this study. We also gratefully acknowledge the Western Province Blood Transfusion Service for providing the control samples.


This study received support from 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.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

The Health Research Ethics Committee at Stellenbosch University (Protocol 2002/C059) approved this study. All procedures performed on human participants were in accordance with the ethical standards of the institutional and national research committees and with the 1964 Helsinki declaration and its later amendments.

Supplementary material

10048_2019_588_MOESM1_ESM.pdf (609 kb)
ESM 1 (PDF 608 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health SciencesStellenbosch UniversityCape TownSouth Africa
  2. 2.Department of Neurology, School of Medicine, Faculty of Health SciencesUniversity of PretoriaPretoriaSouth Africa
  3. 3.University of the Witwatersrand Donald Gordon Medical Centre, Neurology, University of the WitwatersrandJohannesburgSouth Africa
  4. 4.Division of Neurology, Department of Medicine, Faculty of Medicine and Health SciencesStellenbosch UniversityCape TownSouth Africa

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