{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T02:04:31Z","timestamp":1780106671799,"version":"3.54.0"},"reference-count":76,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T00:00:00Z","timestamp":1762128000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T00:00:00Z","timestamp":1762128000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of Hunan Province","doi-asserted-by":"publisher","award":["2023JJ10098"],"award-info":[{"award-number":["2023JJ10098"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171256"],"award-info":[{"award-number":["82171256"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["U20A20355"],"award-info":[{"award-number":["U20A20355"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82571629"],"award-info":[{"award-number":["82571629"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2026,2]]},"abstract":"Abstract<\/jats:title>\n \n Background and Objective<\/jats:title>\n Essential tremor (ET) is a common movement disorder (MD) with significant genetic contributions, yet its genetic basis remains poorly understood. To clarify ET's genetic architecture and improve clinical diagnostics, we investigated pathogenic variants and their clinical implications in a large Chinese cohort.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Whole\u2010genome sequencing was conducted on 3097 Chinese patients with ET and 2050 healthy control subjects. We analyzed variants within 26 known ET\u2010associated genes and 437 broader MD\u2010associated genes. Variants were classified as pathogenic or likely pathogenic (P\/LP) following American College of Medical Genetics and Genomics guidelines.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Twenty\u2010six patients with ET (0.84%) harbored P\/LP variants in ET\u2010associated genes, involving eight genes and 24 distinct variants, with\n CACNA1G<\/jats:italic>\n (n\u2009=\u20099) and\n GPR151<\/jats:italic>\n (n\u2009=\u20094) most frequently implicated. Only two patients carried previously reported ET\u2010associated variants. Genetic segregation analysis in five families did not confirm clear cosegregation. In addition, 83 patients (2.68%) carried P\/LP variants in broader MD\u2010associated genes, notably,\n GSN<\/jats:italic>\n (n\u2009=\u20097),\n FAT2<\/jats:italic>\n (n\u2009=\u20096), and\n FIG4<\/jats:italic>\n (n\u2009=\u20096). Clinical follow\u2010up rediagnosed six individuals carrying\n GCH1<\/jats:italic>\n ,\n SGCE<\/jats:italic>\n ,\n GRN<\/jats:italic>\n , and\n NOTCH3<\/jats:italic>\n variants with alternative MDs, and two individuals with\n PRKN<\/jats:italic>\n and\n PSEN1<\/jats:italic>\n variants developed additional MDs. The remaining patients maintained ET diagnosis without MD progression. Six individuals (0.24%) were identified with Klinefelter's syndrome (47, XXY).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n Our findings underscore ET's genetic heterogeneity. Integrating genetic screening and longitudinal clinical evaluation is critical for precise diagnosis and identifying patients at risk for alternative or concurrent MDs. \u00a9 2025 International Parkinson and Movement Disorder Society.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mds.70106","type":"journal-article","created":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T10:06:15Z","timestamp":1762164375000},"page":"361-372","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic Variation Analysis of Essential Tremor: Insights from the China Essential Tremor Alliance Cohort"],"prefix":"10.1002","volume":"41","author":[{"given":"Mingqiang","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital, Multi\u2010Omics Research Center for Brain Disorders, University of South China Hengyang 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