Celebrating the legacy of two decades of Parkinson's disease research in South Africa
Khaleila Flisher, Amy Claire Buck, Jessica Burns, Lusanda Madula, Kathryn Step, Katherine Atkinson, Debbie Acker, Riaan van Coller, Jonathan A Carr, Soraya BardienPlain language summary
Celebrating the legacy of two decades of Parkinson's disease research in South Africa
Parkinson's disease (PD) has been well-studied in Western Countries, but there are far fewer studies in other parts of the world, especially in Africa. This lack of research is partly because there are insufficient neurologists in many African countries, leading to missed or incorrect diagnoses. Stigma around PD and the absence of national disease registries also make research more difficult. To help fill this gap, our team has spent the past 20 years studying PD in South Africa. We have built a collection of almost 2,000 South African participants and report our main findings here. Overall, we found only 20 PD-causing variants in our collection of 689 unrelated PD cases. Interestingly, some of these genetic findings appear to be unique to South Africans, likely due to the unique genetic composition of the country's population. Our functional studies showed how variants in genes, such as