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Aquaporin-4 polymorphisms modify the penetrance of Parkinson's disease in leucine-rich repeat kinase 2 carriers

2025-10-07 neurology Title + abstract only
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BackgroundPathogenic mutations in the leucine-rich repeat kinase-2 (LRRK2) gene are the most common cause of familial Parkinsons disease (PD). LRRK2 shows incomplete penetrance, yet the biological factors influencing disease expression remain unknown. ObjectivesTo investigate whether genetic variants in aquaporin-4 (AQP4), key in glymphatic system functioning, are associated with the penetrance of PD in LRRK2 carriers. MethodsWe analyzed baseline data from 302 LRRK2 carriers from the Parkinson...

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