biostudies-literatureUnknown37(1)Omer NBiogenMichael J. Fox Foundation for Parkinson&apos;s Research<h4>Background</h4>Mutations in the GBA gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are risk factors for Parkinson's disease (PD).<h4>Objective</h4>To explore the association between GCase activity, PD phenotype, and probability for prodromal PD among carriers of mutations in the GBA and LRRK2 genes.<h4>Methods</h4>Participants were genotyped for the G2019S-LRRK2 and nine GBA mutations common in Ashkenazi Jews. Performance-based measures enabling the calculation of the Movement Disorder Society (MDS) prodromal probability score were collected.<h4>Results</h4>One hundred and seventy PD patients (102 GBA-PD, 38 LRRK2-PD, and 30 idiopathic PD) and 221 non-manifesting carriers (NMC) (129 GBA-NMC, 45 LRRK2-NMC, 15 GBA-LRRK2-NMC, and 32 healthy controls) participated in Movement disorders : official journal of the Movement Disorder Society190-195https://www.ebi.ac.uk/biostudies/studies/S-EPMC9292990biostudies-literatureGlucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity.PMC9292990Goldstein OMirelman AOmer NMabrouk OSCedarbaum JMOrr-Urtreger AGlinka TFraser KBShirvan JCBar-Shira AGiladi NKestenbaum MGana-Weisz MGurevich TThaler AfalseGlucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity.<h4>Background</h4>Mutations in the GBA gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are risk factors for Parkinson's disease (PD).<h4>Objective</h4>To explore the association between GCase activity, PD phenotype, and probability for prodromal PD among carriers of mutations in the GBA and LRRK2 genes.<h4>Methods</h4>Participants were genotyped for the G2019S-LRRK2 and nine GBA mutations common in Ashkenazi Jews. Performance-based measures enabling the calculation of the Movement Disorder Society (MDS) prodromal probability score were collected.<h4>Results</h4>One hundred and seventy PD patients (102 GBA-PD, 38 LRRK2-PD, and 30 idiopathic PD) and 221 non-manifesting carriers (NMC) (129 GBA-NMC, 45 LRRK2-NMC, 15 GBA-LRRK2-NMC, and 32 healthy controls) participated in 2022-01-01T00:00:00Z2022 Jan2025-04-25T21:51:11.116Z2025-02-19T04:56:48.52ZS-EPMC92929903455062110.1002/mds.28792