{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["37(1)"],"submitter":["Omer N"],"funding":["Biogen","Michael J. Fox Foundation for Parkinson&apos;s Research"],"pubmed_abstract":["<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 "],"journal":["Movement disorders : official journal of the Movement Disorder Society"],"pagination":["190-195"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9292990"],"repository":["biostudies-literature"],"pubmed_title":["Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity."],"pmcid":["PMC9292990"],"pubmed_authors":["Goldstein O","Mirelman A","Omer N","Mabrouk OS","Cedarbaum JM","Orr-Urtreger A","Glinka T","Fraser KB","Shirvan JC","Bar-Shira A","Giladi N","Kestenbaum M","Gana-Weisz M","Gurevich T","Thaler A"],"additional_accession":[]},"is_claimable":false,"name":"Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity.","description":"<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 ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jan","modification":"2025-04-25T21:51:11.116Z","creation":"2025-02-19T04:56:48.52Z"},"accession":"S-EPMC9292990","cross_references":{"pubmed":["34550621"],"doi":["10.1002/mds.28792"]}}