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Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array

Year: 2026
Type: article
Study design: Observational Study
Abstract: Parkinson’s disease (PD) is a complex neurodegenerative disorder with a substantial genetic influence. To better characterize the genetic landscape of PD in South Africa, we conducted the largest genetic screening to date for pathogenic single nucleotide and copy number variations (CNVs) using genotyping array data from 689 PD probands. We identified 16 unique missense variants, confirming 15 with Sanger sequencing, in 47 individuals across seven well-established PD genes, with GBA1 and PRKN being most frequent. Also in known PD genes, 18 variants of unknown significance were found. Additionally, CNV analysis using CNV-Finder revealed seven novel CNVs, five in PRKN and two in SNCA , of which, six were validated with Multiplex Ligation-dependent Probe Amplification. The findings highlight the contribution of both rare variants and structural rearrangements to PD in this underrepresented population. This study underscores the importance of expanding genetic research in African cohorts to improve global understanding of PD etiology.
DOI: 10.1016/j.prdoa.2026.100508
Authors: Kathryn Step, Lusanda Madula, Nicole Kuznetsov, Elizna Maasdorp, Jonathan Carr, Riaan van Coller, Marlo Möller, Ignacio F. Mata, Soraya Bardien
Institutions: South African Medical Research Council, Stellenbosch University, National Institutes of Health, National Institute of Neurological Disorders and Stroke, National Institute on Aging, University of Pretoria, Cleveland Clinic, Cleveland Clinic Research
Language: English
Field: Medicine
Open Access status: gold
Estimated APC paid: $2,730
Funders: U.S. Department of Veterans Affairs, Michael J. Fox Foundation for Parkinson's Research, Parkinson's Foundation, Aligning Science Across Parkinson’s, National Research Foundation, South African Medical Research Council, Universiteit Stellenbosch, Harry Crossley Foundation, National Institutes of Health, Center for High Performance Computing, National Institute on Aging, National Institute of Neurological Disorders and Stroke
Awards: G1020920955, Identifying novel Parkinson'’s disease genes exploring understudied Latino populations, G2298144823, G3689319465, Additional Sequencing for the Alzheimer Disease Sequencing Project (ADSP) the Follow-Up Study (FUS), The Diverse Population Initiative, The Interplay between Genetics and Aerobic Exercise to Slow Parkinson's disease (GEARS) Trial
OpenAlex ID: W7216460596
FWCI:
Cites: 67
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Related to: 10