{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T16:38:53Z","timestamp":1773679133165,"version":"3.50.1"},"reference-count":62,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2022,10,13]],"date-time":"2022-10-13T00:00:00Z","timestamp":1665619200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Takeda, Israel"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Carriers of GBA1 gene variants have a significant risk of developing Parkinson\u2019s disease (PD). A cohort study of GBA carriers between 40\u201375 years of age was initiated to study the presence of prodromal PD features. Participants underwent non-invasive tests to assess different domains of PD. Ninety-eight unrelated GBA carriers were enrolled (43 males) at a median age (range) of 51 (40\u201374) years; 71 carried the N370S variant (c.1226A &gt; G) and 25 had a positive family history of PD. The Montreal Cognitive Assessment (MoCA) was the most frequently abnormal (23.7%, 95% CI 15.7\u201333.4%), followed by the ultrasound hyperechogenicity (22%, 95% CI 14\u201332%), Unified Parkinson\u2019s Disease Rating Scale part III (UPDRS-III) (17.2%, 95% CI 10.2\u201326.4%), smell assessment (12.4%, 95% CI 6.6\u201320.6%) and abnormalities in sleep questionnaires (11%, 95% CI 5.7\u201319.4%). Significant correlations were found between tests from different domains. To define the risk for PD, we assessed the bottom 10th percentile of each prodromal test, defining this level as \u201cabnormal\u201d. Then we calculated the percentage of \u201cabnormal\u201d tests for each subject; the median (range) was 4.55 (0\u201343.5%). Twenty-two subjects had more than 15% \u201cabnormal\u201d tests. The limitations of the study included ascertainment bias of individuals with GBA-related PD in relatives, some incomplete data due to technical issues, and a lack of well-characterized normal value ranges in some tests. We plan to enroll additional participants and conduct longitudinal follow-up assessments to build a model for identifying individuals at risk for PD and investigate interventions aiming to delay the onset or perhaps to prevent full-blown PD.<\/jats:p>","DOI":"10.3390\/ijms232012211","type":"journal-article","created":{"date-parts":[[2022,10,13]],"date-time":"2022-10-13T22:21:11Z","timestamp":1665699671000},"page":"12211","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease\u2014Identifying Those at the Greatest Risk"],"prefix":"10.3390","volume":"23","author":[{"given":"Michal","family":"Becker-Cohen","sequence":"first","affiliation":[{"name":"Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"},{"name":"Braun School of Public Health and Community Medicine, Hebrew University of Jerusalem, Jerusalem 9124001, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ari","family":"Zimran","sequence":"additional","affiliation":[{"name":"Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"},{"name":"Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9124001, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tama","family":"Dinur","sequence":"additional","affiliation":[{"name":"Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maayan","family":"Tiomkin","sequence":"additional","affiliation":[{"name":"Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Cozma","sequence":"additional","affiliation":[{"name":"Centogene GmbH, 18055 Rostock, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arndt","family":"Rolfs","sequence":"additional","affiliation":[{"name":"Centogene GmbH, 18055 Rostock, Germany"},{"name":"Medical Faculty, University of Rostock, 18051 Rostock, Germany"},{"name":"Arcensus GmbH, 18055 Rostock, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Arkadir","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9124001, Israel"},{"name":"Department of Neurology, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem 9124001, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Shulman","sequence":"additional","affiliation":[{"name":"Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orly","family":"Manor","sequence":"additional","affiliation":[{"name":"Braun School of Public Health and Community Medicine, Hebrew University of Jerusalem, Jerusalem 9124001, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ora","family":"Paltiel","sequence":"additional","affiliation":[{"name":"Braun School of Public Health and Community Medicine, Hebrew University of Jerusalem, Jerusalem 9124001, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gilad","family":"Yahalom","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Berg","sequence":"additional","affiliation":[{"name":"Department of Neurology, Christian-Albrechts-University of Kiel, 24118 Kiel, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9151-0337","authenticated-orcid":false,"given":"Shoshana","family":"Revel-Vilk","sequence":"additional","affiliation":[{"name":"Gaucher Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"},{"name":"Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9124001, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1093\/qjmed\/89.9.691","article-title":"Occurrence of Parkinson\u2019s syndrome in type I Gaucher disease","volume":"89","author":"Neudorfer","year":"1996","journal-title":"QJM"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2277","DOI":"10.1212\/01.wnl.0000304039.11891.29","article-title":"Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and 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