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[Progress in genetic research on essential tremor].

Yuwen Zhao1, Qiying Sun, Kai Li

  • 1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China. xxyan1268@126.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|October 6, 2017
PubMed
Summary

Essential tremor (ET), a common movement disorder, involves motor and non-motor symptoms. Genetic factors significantly contribute to ET, with several genes and loci identified.

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Area of Science:

  • Neurology
  • Genetics
  • Movement Disorders

Background:

  • Essential tremor (ET) is a prevalent neurological movement disorder.
  • ET presents with kinetic/postural tremors and non-motor symptoms like cognitive dysfunction and sleep disturbances.
  • The precise etiology and pathogenesis of ET remain elusive.

Purpose of the Study:

  • To review the advancements in genetic research concerning Essential Tremor.
  • To highlight identified genetic loci and candidate genes implicated in ET.

Main Methods:

  • Review of existing literature on Essential Tremor genetics.
  • Analysis of family studies identifying genetic loci (ETM 1-3).
  • Compilation of proposed causative and susceptibility genes.

Main Results:

  • Genetic factors play a crucial role in ET onset, with approximately 60% of patients having a family history.
  • Three genetic loci (ETM 1-3) have been identified through family studies.
  • Several genes, including FUS, HTRA2, TENM4, NOS3, LINGO, SLC1A2, and GABA, are implicated as causative or susceptibility factors.

Conclusions:

  • Genetic research has made significant progress in understanding Essential Tremor.
  • Identifying specific genes and loci is key to unraveling ET's pathogenesis.
  • Further genetic studies are essential for developing targeted therapies for ET.