{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T03:13:05Z","timestamp":1790565185347,"version":"4.1.0"},"reference-count":60,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2019,12,9]],"date-time":"2019-12-09T00:00:00Z","timestamp":1575849600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Sciences Foundation of China","doi-asserted-by":"crossref","award":["81430023"],"award-info":[{"award-number":["81430023"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Key Plan for Scientific Research and Development of China","award":["2016YFC1306000"],"award-info":[{"award-number":["2016YFC1306000"]}]},{"name":"National Key Plan for Scientific Research and Development of China","award":["2017YFC0909100"],"award-info":[{"award-number":["2017YFC0909100"]}]},{"name":"National Key R&D Program of China","award":["2018YPC1312003"],"award-info":[{"award-number":["2018YPC1312003"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Essential tremor is one of the most common movement disorders. Despite its high prevalence and heritability, the genetic aetiology of essential tremor remains elusive. Up to now, only a few genes\/loci have been identified, but these genes have not been replicated in other essential tremor families or cohorts. Here we report a genetic study in a cohort of 197 Chinese pedigrees clinically diagnosed with essential tremor. Using a comprehensive strategy combining linkage analysis, whole-exome sequencing, long-read whole-genome sequencing, repeat-primed polymerase chain reaction and GC-rich polymerase chain reaction, we identified an abnormal GGC repeat expansion in the 5\u2032 region of the NOTCH2NLC gene that co-segregated with disease in 11 essential tremor families (5.58%) from our cohort. Clinically, probands that had an abnormal GGC repeat expansion were found to have more severe tremor phenotypes, lower activities of daily living ability. Obvious genetic anticipation was also detected in these 11 essential tremor-positive families. These results indicate that abnormal GGC repeat expansion in the 5\u2032 region of NOTCH2NLC gene is associated with essential tremor, and provide strong evidence that essential tremor is a family of diseases with high clinical and genetic heterogeneities.<\/jats:p>","DOI":"10.1093\/brain\/awz372","type":"journal-article","created":{"date-parts":[[2019,11,19]],"date-time":"2019-11-19T07:10:43Z","timestamp":1574147443000},"page":"222-233","source":"Crossref","is-referenced-by-count":182,"title":["Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor"],"prefix":"10.1093","volume":"143","author":[{"given":"Qi-Ying","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China"},{"name":"Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheng-Mao","family":"Hu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China"},{"name":"Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Xia","family":"Qin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-Xia","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Huang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Xue","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-Chen","family":"Li","sequence":"additional","affiliation":[{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pathology, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao-Xuan","family":"Min","sequence":"additional","affiliation":[{"name":"GrandOmics Biosciences, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Yu","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun-Pu","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pathology, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Pathology, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Liang","sequence":"additional","affiliation":[{"name":"GrandOmics Biosciences, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Nan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Yu","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Fang","family":"Lei","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin-Xiang","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-Wei","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ran-Hui","family":"Duan","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China"},{"name":"Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun","family":"Xia","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China"},{"name":"Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9995-7870","authenticated-orcid":false,"given":"Jing-Yu","family":"Liu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology (HUST), Wuhan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2812-4120","authenticated-orcid":false,"given":"Hong","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China"},{"name":"Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3658-3928","authenticated-orcid":false,"given":"Ji-Feng","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2120-1576","authenticated-orcid":false,"given":"Bei-Sha","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 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Incidence of essential tremor in three elderly populations of central Spain","volume":"64","author":"Benito-Leon","year":"2005","journal-title":"Neurology"},{"key":"2020013108071648700_awz372-B4","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s12311-015-0741-1","article-title":"Linking essential tremor to the cerebellum: clinical evidence","volume":"15","author":"Benito-Leon","year":"2016","journal-title":"Cerebellum"},{"key":"2020013108071648700_awz372-B5","first-page":"7111","article-title":"SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy","volume":"24","author":"Bergareche","year":"2015","journal-title":"Hum Mol Genet"},{"key":"2020013108071648700_awz372-B6","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/nrneurol.2011.44","article-title":"Essential tremor: a neurodegenerative disorder associated with cognitive defects?","volume":"7","author":"Bermejo-Pareja","year":"2011","journal-title":"Nature reviews Neurology"},{"key":"2020013108071648700_awz372-B7","doi-asserted-by":"crossref","first-page":"2280","DOI":"10.1093\/brain\/awy160","article-title":"Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1","volume":"141","author":"Cen","year":"2018","journal-title":"Brain"},{"key":"2020013108071648700_awz372-B8","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1007\/s10072-015-2380-1","article-title":"Review on clinical update of essential tremor","volume":"37","author":"Chunling","year":"2016","journal-title":"Neurol Sci"},{"key":"2020013108071648700_awz372-B9","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/B978-0-444-63233-3.00015-4","article-title":"Essential tremor","volume":"147","author":"Clark","year":"2018","journal-title":"Handb Clin Neurol"},{"key":"2020013108071648700_awz372-B10","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1002\/mds.870131303","article-title":"Ad Hoc Scientific Committee. 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