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

• Autoři: OLSZEWSKA Diana A; SOTO-BEASLEY Alexandra I; MCCARTHY Allan; CERQUERA-CLEVES Catalina; REKTOROVÁ Irena; ALARCON Fernando; JARAMILLO-KOUPERMANN Gabriela; SIUDA Joanna; RUDZINSKA-BAR Monika; PULYK Aleksandr; KARPINSKY Katherine; OGUN Shamsideen; ROSS Owen A; LYNCH Tim; WSZOLEK Zbigniew K
• Rok publikování: 2026
• Druh: Recenzovaný odborný článek
• Časopis / Zdroj: Movement Disorders
• Fakulta / Pracoviště MU: Lékařská fakulta
• www: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.70175
• Doi: https://doi.org/10.1002/mds.70175
• Klíčová slova: Africa; Europe; Parkinson's disease; RAB32; South America
• Popis: Monogenic forms of Parkinson's disease (PD) have demonstrated a heterogeneous disorder involving multiple biological pathways. Familial forms of PD have been linked to variants in LRRK2, SNCA, VPS35, PARKIN, and PINK1. Heterozygous GBA mutation carriers are associated with higher disease risk, earlier onset, and accelerated clinical progression.