000K utf8 1100 $c2022 1500 eng 2050 urn:nbn:de:gbv:8:3-2022-00780-9 2051 10.3390/ijms232012211 3000 Becker-Cohen, Michal 3010 Arkadir, David 3010 Berg, Daniela Dagmar Denise 3010 Cozma, Claudia 3010 Dinur, Tama 3010 Manor, Orly 3010 Paltiel, Ora 3010 Revel-Vilk, Shoshana 3010 Rolfs, Arndt 3010 Shulman, Elena 3010 Tiomkin, Maayan 3010 Yahalom, Gilad 3010 Zimran, Ari 4000 A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease-Identifying Those at the Greatest Risk [Becker-Cohen, Michal] 4209 Carriers of GBA1 gene variants have a significant risk of developing Parkinson's disease (PD). A cohort study of GBA carriers between 40-75 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 (40-74) years; 71 carried the N370S variant (c.1226A > G) and 25 had a positive family history of PD. The Montreal Cognitive Assessment (MoCA) was the most frequently abnormal (23.7%, 95% CI 15.7-33.4%), followed by the ultrasound hyperechogenicity (22%, 95% CI 14-32%), Unified Parkinson's Disease Rating Scale part III (UPDRS-III) (17.2%, 95% CI 10.2-26.4%), smell assessment (12.4%, 95% CI 6.6-20.6%) and abnormalities in sleep questionnaires (11%, 95% CI 5.7-19.4%). 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 "abnormal". Then we calculated the percentage of "abnormal" tests for each subject; the median (range) was 4.55 (0-43.5%). Twenty-two subjects had more than 15% "abnormal" 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. 4950 https://doi.org/10.3390/ijms232012211$xR$3Volltext$534 4950 https://nbn-resolving.org/urn:nbn:de:gbv:8:3-2022-00780-9$xR$3Volltext$534 4961 https://macau.uni-kiel.de/receive/macau_mods_00003237 5051 610 5550 Carriers Of Gba1 Variants 5550 Cohort Studies 5550 Gaucher Disease 5550 Gaucher Disease Carriers 5550 Glucosylceramidase 5550 Heterozygote 5550 Humans 5550 Male 5550 Middle Aged 5550 Mutation 5550 Parkinson Disease 5550 Parkinson’s Disease 5550 Prodromal Parkinson Disease 5550 Prodromal Symptoms