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, Xun Zhou, MD, PhD Department of Geriatric Neurology, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China Department of Neurology, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China Search for other works by this author on: Oxford Academic Runcheng He, MD, PhD Department of Neurology, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China Search for other works by this author on: Oxford Academic Sheng Zeng, MD, PhD Department of Geriatrics, The Second Xiangya Hospital, Central South University , Changsha, Hunan, 410011 , China Search for other works by this author on: Oxford Academic Mingqiang Li, MD, PhD 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 Search for other works by this author on: Oxford Academic Hongxu Pan, MD, PhD Department of Neurology, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China Search for other works by this author on: Oxford Academic Yuwen Zhao, MD, PhD Department of Neurology, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China Search for other works by this author on: Oxford Academic Zhenhua Liu, MD, PhD Department of Neurology, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University , Changsha, Hunan, 410008 , China Search for other works by this author on: Oxford Academic Qian Xu, MD, PhD Department of Neurology, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University , Changsha, Hunan, 410008 , China Search for other works by this author on: Oxford Academic Jifeng Guo, MD, PhD Department of Neurology, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University , Changsha, Hunan, 410008 , China Search for other works by this author on: Oxford Academic Xinxiang Yan Department of Neurology, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China Search for other works by this author on: Oxford Academic
https://orcid.org/0000-0002-3658-3928 , Jinchen Li Department of Geriatric Neurology, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China Center for Medical Genetics, School of Life Sciences, Central South University , Changsha, Hunan, 410008 , China Search for other works by this author on: Oxford Academic Beisha Tang, MD Department of Neurology, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China 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 National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China Center for Medical Genetics, School of Life Sciences, Central South University , Changsha, Hunan, 410008 , China Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University , Changsha, Hunan, 410008 , China Correspondence may also be sent to: Beisha Tang, Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province 410008, China, E-mail: bstang7398@163.com Search for other works by this author on: Oxford Academic Qiying Sun, MD, PhD Department of Geriatric Neurology, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University , Changsha, Hunan, 410008 , China Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University , Changsha, Hunan, 410008 , China Correspondence to: Qiying Sun, Department of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province 410008, China. E-mail: sunqiying2015@163.com Search for other works by this author on: Oxford Academic
Brain Communications, fcae217, https://doi.org/10.1093/braincomms/fcae217
Published:
29 June 2024
Article history
Received:
06 November 2023
Revision received:
07 May 2024
Accepted:
09 May 2024
Published:
29 June 2024
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Xun Zhou, Runcheng He, Sheng Zeng, Mingqiang Li, Hongxu Pan, Yuwen Zhao, Zhenhua Liu, Qian Xu, Jifeng Guo, Xinxiang Yan, Jinchen Li, Beisha Tang, Qiying Sun, Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor, Brain Communications, 2024;, fcae217, https://doi.org/10.1093/braincomms/fcae217
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Abstract
There is an obvious clinical-pathological overlap between essential tremor and some known tremor-associated short tandem repeat expansion disorders. The aim is to analyze 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 (1 ATXN1, 8 TBP, 2 FMR1, 1 ATN1), and 6 cases (6/515, 1.2%) with pathogenic expansions (1 ATXN1, 1 ATXN2, 1 ATXN8OS, 1 PPP2R2B, 1 FMR1, 1 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-pathological features.
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Essential tremor, short tandem repeat, intermediate repeats, pathogenic expansion
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Accepted manuscripts are PDF versions of the author’s final manuscript, as accepted for publication by the journal but prior to copyediting or typesetting. They can be cited using the author(s), article title, journal title, year of online publication, and DOI. They will be replaced by the final typeset articles, which may therefore contain changes. The DOI will remain the same throughout.
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© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
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