Genetic screening of South African families with Parkinson’s disease

Authors

  • S Bardien Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, South Africa; and South African Medical Research Council/Stellenbosch University Genomics of Brain Disorders Research Unit, Stellenbosch University, Cape Town, South Africa
  • A Braun Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa
  • R van Coller Department of Neurology, School of Medicine, Faculty of Health Sciences, University of Pretoria, South Africa; and Pretoria Institute of Neurology, Die Wilgers, Pretoria, South Africa
  • F Hassan Amod Department of Neurology, Inkosi Albert Luthuli Central Hospital, Cato Manor, Durban, South Africa; and Department of Neurology, Faculty of Medicine and Health Sciences, University of KwaZulu-Natal, Durban, South Africa
  • J Carr Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa
  • S Moosa Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa; and Medical Genetics, Tygerberg Hospital, Cape Town, South Africa

DOI:

https://doi.org/10.7196/SAMJ.2024.v114i2.1750

Keywords:

Parkinson's disease; genetic screening; genetic consortium

Abstract

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References

GBD 2016 Parkinson’s Disease Collaborators. Global, regional, and national burden of Parkinson’s disease, 1990 - 2016: A systematic analysis for the Global Burden of Disease Study 2016. Lancet Neurol 2018;17(11):939-953. https://doi.org/10.1016/S1474-4422(18)30295-3

Ou Z, Pan J, Tang, S, et al. Global trends of incidence, prevalence, and years lived with disability of Parkinson’s disease in 204 countries/territories from 1990 to 2019. Front Pub Health 2021;9:776847. https://doi.org/10.3389/fpubh.2021.776847

Tsalenchuk M, Gentlemen SM, Marzi SJ. Linking environmental risk factors with epigenetic mechanisms in Parkinson’s disease. NPJ Parkinson’s Dis 2023;9(123):123-134. https://doi. org/10.1038/s41531-023-00568-z

Gasser T. Mendelian forms of Parkinson’s disease. Biochim Biphys Acta 2009;1792(7):587-596.

https://doi.org/10.1016/j.bbadis.2008.12.007

The Global Parkinson’s Genetics Program. GP2: The Global Parkinson’s Genetics Program. Mov Disord 2021;36(4):842-851. https://doi.org/10.1002/mds.28494

Schekman R, Au Riley E. Coordinating new approach to basic research into Parkinson’s disease. eLife 2019;8:e51167. https://doi.org/10.7554/eLife.51167

Tolosa E, Garrido A, Scholz SW, Poewe W. Challenges in the diagnosis of Parkinson’s disease. Lancet Neurol 2021;20(5):385-397. https://doi.org/10.1016/S1474-4422(21)00030-2

CiliaR,TunesiS,MarottaG,etal.SurvivalanddementiainGBA-associatedParkinson’sdisease:The mutation matters. Ann Neurol 2016;80(5):662-673. https://doi.org/10.1002/ana.24777

Azeggagh S, Berwick DC. The development of inhibitors of leucine-rich repeat kinase 2 (LRRK2) as a therapeutic strategy for Parkinson’s disease: The current state of play. Br J Pharmacol.2022;179(8):1478-1495. https://doi.org/10.1111/bph.15575

CampbellMC,TishkoffSA.Africangeneticdiversity:Implicationsforhumandemographichistory, modern human origins, and complex disease mapping. Ann Rev Genomics Hum Genet 2008;9:403- 433. https://doi.org/10.1146/annurev.genom.9.081307.164258

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Published

2024-02-13

Issue

SAMJ Vol. 114 no. 2

Section

Editorials

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Copyright (c) 2024 S Bardien, A Braun, R van Coller, F Hassan Amod, J Carr, S Moosa

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How to Cite

1.
Bardien S, Braun A, van Coller R, Hassan Amod F, Carr J, Moosa S. Genetic screening of South African families with Parkinson’s disease. S Afr Med J [Internet]. 2024 Feb. 13 [cited 2025 Apr. 24];114(2):e1750. Available from: https://samajournals.co.za/index.php/samj/article/view/1750

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