Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF.
Matheus Vernet Machado Bressan WilkeFabiano PoswarWyllians Vendramini BorelliKristiane Michelin TirelliDévora Natalia RandonFranciele Fátima LopesFernanda Bender PasettoFernanda Medeiros SebastiãoGabrielle Dineck IopLarissa FaquetiLayzon Antonio da SilvaFrancyne KubaskiArtur Francisco Schumacher SchuhRoberto GiuglianiIda Vanessa Döederlein SchwartzPublished in: Orphanet journal of rare diseases (2023)
The patient with the highest number of NMS in our 2018 cohort was the one that developed PD, corroborating with the importance of this longitudinal follow-up. CSF and plasma analysis might allow a better understanding of the neurodegenerative processes connecting PD and the lysosomal environment. Further analysis is needed to understand this relationship.