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Essential tremor: genetic update

Published online by Cambridge University Press:  10 December 2019

Hao Deng Open the ORCID record for Hao Deng [Opens in a new window] ,
Shan Wu  and
Joseph Jankovic
Hao Deng*
Affiliation:
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China
Shan Wu
Affiliation:
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China
Joseph Jankovic
Affiliation:
Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX, USA
*
Author for correspondence: Hao Deng, E-mail: [email protected]
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Abstract

Essential tremor (ET) is a neurological movement disorder characterised by bilateral limb kinetic/postural tremor, with or without tremor in other body parts including head, voice and lower limbs. Since no causative genes for ET have been identified, it is likely that the disorder occurs as a result of complex genetic factors interacting with various cellular and environmental factors that can result in abnormal function of circuitry involving the cerebello–thalamo–cortical pathway. Genetic analyses have uncovered at least 14 loci and 11 genes that are related to ET, as well as various risk or protective genetic factors. Limitations in ET genetic analyses include inconsistent disease definition, small sample size, varied ethnic backgrounds and many other factors that may contribute to paucity of relevant genetic data in ET. Genetic analyses, coupled with functional and animal studies, have led to better insights into possible pathogenic mechanisms underlying ET. These genetic studies may guide the future development of genetic testing and counselling, and specific, pathogenesis-targeted, therapeutic strategies.

Keywords

Animal modeldisease-causing mutationessential tremorgenetic locusrisk factor
Type
Unsolicited Review
Information
Expert Reviews in Molecular Medicine , Volume 21 , 2019 , e8
Copyright
Copyright © Cambridge University Press 2019

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Footnotes

*

The first two authors contributed equally to this study.

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