Combined Assessment of GCase Activity and α-synuclein as a Promising Blood Biomarker for GBA Mutation Carriers

Background: Glucocerebrosidase (GBA) mutations are the most frequent genetic risk factors for Parkinson Disease (PD). Decreased glucocerebrosidase activity (GCase) and increased α-synuclein (α-syn) levels are both considered promising biomarkers for GBA-PD. However, the role of combined blood GCase/α-synuclein is still poorly investigated. The present study investigates whether combined evaluation of blood GCase and α-synuclein can predict disease severity in GBA-PD and prodromal features in asymptomatic GBA-carriers (GBA-nonPD).

Source: Parkinsonism and Related Disorders - May 1, 2024 Category: Neurology Authors: C. Pasquini, M. Avenali, S.P. Caminiti, S. Cerri, M. Gegg, M. Toffoli, G. Ongari, D. Hughes, C. Cerami, C. Crespi, E.M. Valente, A.H.V. Schapira, F. Blandini Source Type: research