Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies

• DOI: 10.1007/s12035-018-1090-0
• Publication Date: 2018-06-08T02:52:28Z
• Authors: Tim E. Moors; Silvia Paciotti; Angela Ingrassia; Marialuisa Quadri; Guido Breedveld; Anna Tasegian; Davide Chiasserini; Paolo Eusebi; Gonzalo Duran-Pac...; Thomas Kremer; Paolo Calabresi; Vincenzo Bonifati; Lucilla Parnetti; Tommaso Beccari; Wilma D. J. van d...
• Keywords: Lewy body

Mutations in the GBA gene, encoding lysosomal hydrolase glucocerebrosidase (GCase), are most common known genetic risk factor for Parkinson's disease (PD) and dementia with Lewy bodies (DLB). The present study aims to gain more insight into changes activity different brain regions of sporadic PD DLB patients, screened variants. Enzymatic activities GCase, β-hexosaminidase, cathepsin D were measured frontal cortex, putamen, substantia nigra (SN) a cohort patients advanced as well age-matched non-demented controls (n = 15/group) using fluorometric assays. Decreased GCase (− 21%) 15%) was found SN cortex compared controls, respectively. Population stratification applied based on genotype, showing substantially lower (~ − 40%) variant carriers all regions. further significantly decreased without variants comparison Our results show brains variants, pronounced SN. our confirm findings from previous studies, suggesting role GBA-associated DLB.