The Assessment of RAB32 p.Ser71Arg Variant Prevalence in Parkinson's Disease Across Selected African, European, and South American Cohorts

Monogenic forms of Parkinson's disease (PD) have demonstrated a heterogeneous disorder involving multiple biological pathways.¹ Familial forms of PD have been linked to variants in LRRK2, SNCA, VPS35, PARKIN, and PINK1.¹ Heterozygous GBA mutation carriers are associated with higher disease risk, earlier onset, and accelerated clinical progression.¹

Recently, RAB32 has emerged as a nominated PD gene. It encodes a Rab GTPase involved in mitochondrial and vesicular trafficking pathways. A rare substitution, p.Ser71Arg (rs200251693), has been proposed as a potential susceptibility factor.^2, 3 Reported carriers exhibit late-onset, levodopa-responsive parkinsonism with familial clustering; the only available autopsy case lacked Lewy bodies.^1-3 Across published studies, RAB32 c.213C>G was detected in 0.22% to 2.3% of patients, primarily within Mediterranean and North American cohorts, and was absent in large East Asian datasets. This pattern suggests regional specificity and a possible shared Mediterranean haplotype.^2-6 Limited data exist from several regions, including Eastern Europe, Ireland, sub-Saharan Africa, and South America.