{
  "abstract": "Introduction\n\nAlthough there have been significant advances in the genetic etiology of Parkinson's disease (PD), most of this research has been conducted in European populations. This study aimed to characterize the genetic landscape of PD in South Africa, whose populations are renowned for their extensive genetic diversity and admixture.Methods\n\nWe recruited 689 PD probands across South Africa. These participants were genotyped using the NeuroBooster array in collaboration with the Global Parkinson's Genetics Program (GP2). An in-house computational workflow was used to identify pathogenic missense variants, which were validated using Sanger sequencing. The CNV-Finder pipeline was used to screen for copy number variations (CNVs), which were validated using Multiplex Ligation-dependent Probe Amplification (MLPA). Previously identified pathogenic variants were used as positive controls in our analysis.Results\n\nWe identified 16 unique missense variants in 47 individuals, 15 of which were independently confirmed by Sanger sequencing. However, these variants are not considered likely to be associated with PD status. We also identified new homozygous PRKN CNVs in three individuals and a whole-gene SNCA duplication in one individual, all of which were validated by MLPA. In addition, one individual had a CNV in the 5' untranslated region of SNCA, although its pathogenicity remains unclear. When these findings were combined with our previous results, 3.5% of probands (24 individuals) were found to have a genetic basis for their disease.Conclusions\n\nWe conducted the largest pathogenic variant screening to date in this unique and underrepresented population, and our findings highlight the rare contribution of known pathogenic variants. This study underscores the importance of expanding genetic research in African cohorts to improve global understanding of PD etiology.",
  "abstract_shown": true,
  "affiliations": [
    "South African Medical Research Council Centre for Tuberculosis Research (CTR); Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.",
    "Biomedical Research Institute (BMRI), Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.",
    "Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.",
    "DataTecnica LLC, Washington, DC 20037, USA.",
    "Division of Immunology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.",
    "School for Data Science and Computational Thinking, Stellenbosch University, Cape Town, South Africa.",
    "Center for Bioinformatics and Computational Biology, Stellenbosch University, Cape Town, South Africa.",
    "Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.",
    "South African Medical Research Council/Stellenbosch University Genomics of Brain Disorders Research Unit, Stellenbosch University, Cape Town, South Africa.",
    "Department of Neurology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.",
    "National Institute for Theoretical and Computational Sciences (NITheCS), Stellenbosch, South Africa.",
    "Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), South Africa.",
    "Genome Sciences and Systems Biology, Cleveland Clinic Research, Cleveland Clinic Foundation, Cleveland, United States."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 10,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Kathryn Step"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Lusanda Madula"
    },
    {
      "affs": [
        2,
        3
      ],
      "name": "Nicole Kuznetsov"
    },
    {
      "affs": [
        0,
        1,
        4,
        5,
        6
      ],
      "name": "Elizna Maasdorp",
      "orcid": "0000-0002-3402-169X"
    },
    {
      "affs": [
        7,
        8
      ],
      "name": "Jonathan Carr"
    },
    {
      "affs": [
        9
      ],
      "name": "Riaan van Coller"
    },
    {
      "affs": [
        0,
        1,
        6,
        10,
        11
      ],
      "name": "Marlo Möller",
      "orcid": "0000-0002-0805-6741"
    },
    {
      "affs": [
        12
      ],
      "name": "Ignacio F Mata"
    },
    {
      "affs": [
        0,
        1,
        8
      ],
      "name": "Soraya Bardien"
    },
    {
      "name": "Global Parkinson's Genetics Program (GP2)"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/6bsn4e4g62nrj.bib",
  "cited_by": 0,
  "doi": "10.1016/j.prdoa.2026.100508",
  "fulltext_url": "https://europepmc.org/articles/PMC13672830",
  "id": "6bsn4e4g62nrj",
  "issns": [
    "2590-1125"
  ],
  "landing_url": "https://europepmc.org/article/MED/42890374",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2728|Parkinson's Disease Mechanisms and Treatments"
    ]
  ],
  "openalex": "W7216460596",
  "pdf_url": "https://europepmc.org/articles/PMC13672830?pdf=render",
  "pmcid": "PMC13672830",
  "pmid": "42890374",
  "published": "2026-10-02",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/6bsn4e4g62nrj.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:00Z",
      "native_id": "MED:42890374",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42890374"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2728|Parkinson's Disease Mechanisms and Treatments",
      "subfield": "neurology"
    }
  ],
  "title": "Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.",
  "title_text": "Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:19:00Z",
  "url": "https://research.draconitic.com/paper/6bsn4e4g62nrj",
  "venue": "Clinical parkinsonism & related disorders",
  "versions": []
}