Genetics of essential tremor

Parkinsonism Relat Disord. 2016 Jan:22 Suppl 1:S176-8. doi: 10.1016/j.parkreldis.2015.09.022. Epub 2015 Sep 14.

Abstract

Essential tremor is one of the most common adult-onset movement disorders. While it is recognized that genes play a major role in ET with ≥50% of the affected individuals having a positive family history, identifying underlying genes in both monogenic and complex forms of ET has been a challenging task. Recent discoveries linking LINGO1, FUS and TENM4 to essential tremor have been met with cautious optimism since reproducibility and pathogenicity have been contentious in previously implicated genes. The lack of gold standard diagnostic criteria together with clinical and genetic heterogeneity have presented considerable obstacles. Nevertheless, future genetic studies should adopt a multi-prong genomic approach with adequate sample size, supported by both functional in vitro and in vivo studies. Elucidation of the pathophysiologic mechanism will lead to better therapeutic strategies and management.

Keywords: Animal model; Cerebellum; Essential tremor; Genetic heterogeneity; Genetic mutations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Essential Tremor / diagnosis*
  • Essential Tremor / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Membrane Proteins / genetics
  • Nerve Tissue Proteins / genetics
  • RNA-Binding Protein FUS / genetics

Substances

  • FUS protein, human
  • LINGO1 protein, human
  • Membrane Proteins
  • Nerve Tissue Proteins
  • RNA-Binding Protein FUS
  • Tenm4 protein, mouse