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