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Updated: Feb 15, 2026

MRI-guided Focused Ultrasound Thalamotomy for Patients with Medically-refractory Essential Tremor
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Essential tremor.

Lorraine N Clark1, Elan D Louis2

  • 1Department of Pathology and Cell Biology, College of Physicians and Surgeons, and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, United States.

Handbook of Clinical Neurology
|January 13, 2018
PubMed
Summary
This summary is machine-generated.

Genetic factors significantly influence essential tremor (ET), a common neurologic disorder. Advanced whole-genome sequencing is crucial for understanding ET

Keywords:
essential tremoretiologyfamily studiesgeneticsgenomewide association studiesphenotypingwhole-genome sequencing

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Area of Science:

  • Neurogenetics
  • Neurology
  • Genomic Medicine

Background:

  • Essential tremor (ET) is a prevalent neurological disorder with suspected significant genetic contributions.
  • Progress in identifying ET's genetic causes has been limited, potentially due to heterogeneity in patient phenotypes and genotypes.
  • Standardized phenotyping is critical for advancing genetic research in ET.

Purpose of the Study:

  • To highlight the challenges and propose advanced methodologies for elucidating the genetic architecture of essential tremor.
  • To emphasize the need for improved phenotyping strategies in ET genetic studies.
  • To advocate for whole-genome sequencing to address the limitations of current genetic research approaches in ET.

Main Methods:

  • Discusses the limitations of current genome-wide association studies (GWAS) in essential tremor research.
  • Proposes whole-genome sequencing as a valuable tool for dissecting the genetic basis of ET.
  • Suggests exploring various genetic factors including copy number variants, rare variants, mosaicism, epigenetic changes, and noncoding variations.

Main Results:

  • Current genetic research on essential tremor has yielded limited success, possibly due to inconsistent phenotyping across studies.
  • Whole-genome sequencing offers a promising avenue to test specific hypotheses regarding ET inheritance patterns and genetic architecture.
  • Several genetic factors and variation types remain underexplored in the context of essential tremor etiology.

Conclusions:

  • Meticulous phenotyping and advanced genomic approaches like whole-genome sequencing are essential for understanding the genetic etiology of essential tremor.
  • Future research should investigate a broader spectrum of genetic variations, including rare variants and epigenetic modifications.
  • Addressing phenotypic and genotypic heterogeneity is key to unlocking the genetic secrets of essential tremor.