Authors
Leonor Correia Guedes, Robin Barry Chan, Marcos Antonio Gomes, Vasco A Conceicao, Raquel Bouca Machado, Tiago Soares, Yimeng Xu, Paulo Gaspar, Joao Andre Carrico, Roy N Alcalay, Joaquim J Ferreira, Tiago Fleming Outeiro, Gabriel Miltenberger-Miltenyi
Publication date
2017/11/1
Journal
Parkinsonism & related disorders
Volume
44
Pages
58-65
Publisher
Elsevier
Description
Introduction
Mutations in the GBA gene, encoding for the lysosomal enzyme glucocerebrosidase, are associated with Gaucher disease. Alterations in plasma sphingolipids have been reported in Gaucher, and similarly in brain extracts in Lewy body disease. As GBA mutations are prevalent risk factors for Parkinson's disease and overlap of molecular pathways are presumable, here we assessed the lipid profiles in Parkinson's patients with and without GBA mutations.
Methods
We sequenced all GBA exons in 415 Parkinson's patients, previously genotyped for LRRK2. 64 patients (29 GBA positive vs. 35 non-GBA-carriers including 18 LRRK2 positive and 17 non-mutated) were analyzed for chitotriosidase activity and for the concentration of 40 lipid classes using HPLC-MS.
Results
29/415 patients (6.9%) carried 8 different GBA mutations associated with Gaucher or Parkinson's, including one novel mutation …
Scholar articles
LC Guedes, RB Chan, MA Gomes, VA Conceicao… - Parkinsonism & related disorders, 2017