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The aim is to analyse whether these short tandem repeat genes, including ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8OS, ATXN10, PPP2R2B, TBP, BEAN1, NOP56, DAB1, ATN1, SADM12 and FMR1, are associated with familial essential tremor patients. Genetic analysis of repeat sizes in tremor-associated short tandem repeat expansions was performed in a large cohort of 515 familial essential tremor probands and 300 controls. The demographic and clinical features among carriers of pathogenic expansions, intermediate repeats and non-carriers were compared. A total of 18 out of 515 (18\/515, 3.7%) patients were found to have repeats expansions, including 12 cases (12\/515, 2.5%) with intermediate repeat expansions (one ATXN1, eight TBP, two FMR1, one ATN1), and six cases (6\/515, 1.2%) with pathogenic expansions (one ATXN1, one ATXN2, one ATXN8OS, one PPP2R2B, one FMR1, one SAMD12). There were no statistically significant differences in intermediate repeats compared to healthy controls. Furthermore, there were no significant differences in demographics and clinical features among individuals with pathogenic expansions, intermediate repeat expansions carriers and non-carriers. Our study indicates that the intermediate repeat expansion in tremor-associated short tandem repeat expansions does not pose an increased risk for essential tremor, and rare pathogenic expansion carriers have been found in the familial essential tremor cohort. The diagnosis of essential tremor based solely on clinical symptoms remains a challenge in distinguishing it from known short tandem repeat expansions diseases with overlapping clinical\u2013pathological features.<\/jats:p>","DOI":"10.1093\/braincomms\/fcae217","type":"journal-article","created":{"date-parts":[[2024,6,29]],"date-time":"2024-06-29T17:22:36Z","timestamp":1719681756000},"source":"Crossref","is-referenced-by-count":5,"title":["Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor"],"prefix":"10.1093","volume":"6","author":[{"given":"Xun","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Geriatric Neurology, Xiangya Hospital, Central South University , Changsha, Hunan 410008 , China"},{"name":"Department of Neurology, Xiangya Hospital, Central South University , Changsha, Hunan 410008 , 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Central South University , Changsha, Hunan 410008 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuwen","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital, Central South University , Changsha, Hunan 410008 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenhua","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital, Central South University , Changsha, Hunan 410008 , China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University , Changsha, Hunan 410008 , China"},{"name":"Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University , Changsha, Hunan 410008 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital, Central 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China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinxiang","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital, Central South University , Changsha, Hunan 410008 , China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University , Changsha, Hunan 410008 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinchen","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Geriatric Neurology, Xiangya Hospital, Central South University , Changsha, Hunan 410008 , China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University , Changsha, Hunan 410008 , China"},{"name":"Center for Medical Genetics, School of Life Sciences, Central South University , Changsha, Hunan 410008 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2120-1576","authenticated-orcid":false,"given":"Beisha","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xiangya Hospital, Central South University , Changsha, Hunan 410008 , China"},{"name":"Department of Neurology, Multi-Omics Research Center for Brain Disorders, The First Affiliated Hospital, Hengyang Medical School, University of South China , Hengyang, Hunan 421000 , China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University , Changsha, Hunan 410008 , China"},{"name":"Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University , Changsha, Hunan 410008 , China"},{"name":"Center for Medical Genetics, School of Life Sciences, Central South University , Changsha, Hunan 410008 , 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