98% of Sub-Saharan African Parkinsons disease cases lack an identified genetic cause creating a huge research gap. This suggests that environmental factors and the possibility of undiscovered genes and mechanisms have to be worked on and found.
Banjaw and colleagues describe in a new paper in Movement Disorders how the genetic causes of Parkinson’s disease differ across African populations. Monogenic Parkinson’s disease accounts for about 11% of cases studied in African populations, with strong regional variation.
Banjaw, Z., Assefa, Z., Bogaert, E., Crosiers, D., Santens, P. and Dermaut, B. (2026), Genetic Landscape of Monogenic Parkinson’s Disease in the African Population—A Systematic Review. Mov Disord. https://doi.org/10.1002/mds.70302
Mohamed W. Leveraging genetic diversity to understand monogenic Parkinson’s disease’s landscape in AfrAbia. Am J Neurodegener Dis. 2023 Aug 15;12(4):108-122. PMID: 37736165; PMCID: PMC10509492.
As I read through the papers, these are what came to mind.
What we don’t know is frequency of GBA, SNCA, PARKIN across African populations, what the novel Africa-specific variants are and what the genotype-phenotype correlations are. The presence of complex phenotypes often causes us to consider other parkinsonism. Do African LRRK2 carriers have the same clinical presentation as Europeans?
Does pesticide exposure, diet, or infectious history interact with monogenic risk in African settings?. Africa’s genetic diversity likely harbors novel PD-relevant variants; both risk and protective.
Polygenic risk scores are primarily developed using data from individuals of European ancestry, leading to biases in their performance across different ancestries.
There is a need for a multi ancestry approach in developing genetic risk scores to ensure their effectiveness.
Well, I just wanted to share my afternoon musings whilst I read these two papers.