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[Essential tremor: genetic update].

Hao Deng1,2, Shan Wu1, Joseph Jankovic3

  • 1Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.

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|December 11, 2019
PubMed
Summary
This summary is machine-generated.

Essential tremor (ET) is a neurological disorder with complex genetic causes. Research identifies ET-related genes and loci, guiding future diagnostics and treatments.

Keywords:
Animal modeldisease-causing mutationessential tremorgenetic locusrisk factor

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Area of Science:

  • Neurology
  • Genetics
  • Movement Disorders

Background:

  • Essential tremor (ET) is a neurological movement disorder causing tremors.
  • The exact genetic causes of ET remain unknown, suggesting complex genetic and environmental interactions.
  • The cerebello-thalamo-cortical pathway is implicated in ET pathogenesis.

Purpose of the Study:

  • To review current understanding of genetic factors in Essential Tremor.
  • To highlight challenges and advancements in ET genetic research.
  • To explore the implications of genetic findings for future ET management.

Main Methods:

  • Review of genetic analyses in Essential Tremor research.
  • Integration of findings from functional and animal studies.
  • Analysis of identified ET-related genetic loci and genes.

Main Results:

  • At least 14 loci and 11 genes associated with Essential Tremor have been identified.
  • Various genetic factors contributing to ET risk or protection have been uncovered.
  • Limitations in current genetic studies include inconsistent definitions and small sample sizes.

Conclusions:

  • Genetic studies provide crucial insights into Essential Tremor's underlying mechanisms.
  • Further research is needed to overcome limitations in ET genetic data.
  • Genetic findings pave the way for improved ET genetic testing, counseling, and targeted therapies.