{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13"],"submitter":["Lopez GJ"],"pubmed_abstract":["<h4>Objective</h4>Biallelic mutations in <i>GBA1</i>, which encodes the lysosomal enzyme glucocerebrosidase, cause the lysosomal storage disorder Gaucher disease (GD). In addition, mutations in <i>GBA1</i> are the most common genetic risk factor for future development of Parkinson's disease (PD). However, most mutation carriers will never develop parkinsonism. Olfactory dysfunction is often a prodromal symptom in patients with PD, appearing many years prior to motor dysfunction. The purpose of this study was to assess olfactory function longitudinally in individuals with and without parkinsonism who carry at least one <i>GBA1</i> mutation.<h4>Methods</h4>One hundred seventeen individuals who participated in a natural history study of GD at the National Institutes of Health were evaluated u"],"journal":["Frontiers in neurology"],"pagination":["1039214"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9622935"],"repository":["biostudies-literature"],"pubmed_title":["Longitudinal evaluation of olfactory function in individuals with Gaucher disease and <i>GBA1</i> mutation carriers with and without Parkinson's disease."],"pmcid":["PMC9622935"],"pubmed_authors":["Lopez GJ","Lichtenberg J","Lecker AL","Tayebi N","Sidransky E","Ryan E"],"additional_accession":[]},"is_claimable":false,"name":"Longitudinal evaluation of olfactory function in individuals with Gaucher disease and <i>GBA1</i> mutation carriers with and without Parkinson's disease.","description":"<h4>Objective</h4>Biallelic mutations in <i>GBA1</i>, which encodes the lysosomal enzyme glucocerebrosidase, cause the lysosomal storage disorder Gaucher disease (GD). In addition, mutations in <i>GBA1</i> are the most common genetic risk factor for future development of Parkinson's disease (PD). However, most mutation carriers will never develop parkinsonism. Olfactory dysfunction is often a prodromal symptom in patients with PD, appearing many years prior to motor dysfunction. The purpose of this study was to assess olfactory function longitudinally in individuals with and without parkinsonism who carry at least one <i>GBA1</i> mutation.<h4>Methods</h4>One hundred seventeen individuals who participated in a natural history study of GD at the National Institutes of Health were evaluated u","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2025-04-19T02:35:30.247Z","creation":"2025-04-07T12:59:26.671Z"},"accession":"S-EPMC9622935","cross_references":{"pubmed":["36330429"],"doi":["10.3389/fneur.2022.1039214"]}}