Essential tremor

Lorraine N. Clark, Elan D. Louis

Research output: Chapter in Book/Report/Conference proceedingChapter

15 Scopus citations

Abstract

Essential tremor (ET) is one of the most common neurologic disorders, and genetic factors are thought to contribute significantly to disease etiology. There has been a relative lack of progress in understanding the genetic etiology of ET. This could reflect a number of factors, including the presence of substantial phenotypic and genotypic heterogeneity. Thus, a meticulous approach to phenotyping is important for genetic research. A lack of standardized phenotyping across studies and patient centers likely has contributed to the relative lack of success of genomewide association studies in ET. To dissect the genetic architecture of ET, whole-genome sequencing will likely be of value. This will allow specific hypotheses about the mode of inheritance and genetic architecture to be tested. A number of approaches still remain unexplored in ET genetics, including the contribution of copy number variants, uncommon moderate-effect alleles, rare variant large-effect alleles (including Mendelian and complex/polygenic modes of inheritance), de novo and gonadal mosaicism, epigenetic changes, and noncoding variation.

Original languageEnglish (US)
Title of host publicationHandbook of Clinical Neurology
PublisherElsevier B.V.
Pages229-239
Number of pages11
DOIs
StatePublished - Jan 1 2018
Externally publishedYes

Publication series

NameHandbook of Clinical Neurology
Volume147
ISSN (Print)0072-9752
ISSN (Electronic)2212-4152

Keywords

  • essential tremor
  • etiology
  • family studies
  • genetics
  • genomewide association studies
  • phenotyping
  • whole-genome sequencing

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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