Genetics of essential tremor

Hao Deng, Weidong Le, Joseph Jankovic

Research output: Contribution to journalReview articlepeer-review

129 Scopus citations

Abstract

Essential tremor (ET), the cause of which remains poorly understood, is one of the most common neurological disorders. While environmental agents have been proposed to play a role, genetic factors are believed to contribute to its onset. Thus far, three gene loci (ETM1 on 3q13, ETM2 on 2p24.1 and a locus on 6p23) have been identified in patients and families with the disorder. In addition, a Ser9Gly variant in the dopamine D3 receptor gene on 3q13 has been suggested to be a risk factor. Moreover, genetically deficient animal models express a phenotype that overlaps with some clinical characteristics of the human form of the illness. Further analyses of these genetic abnormalities may lead to the identification of causative mutations and a better understanding of the molecular mechanisms in this common movement disorder.

Original languageEnglish (US)
Pages (from-to)1456-1464
Number of pages9
JournalBrain
Volume130
Issue number6
DOIs
StatePublished - Jun 2007

Keywords

  • Autosomal dominant
  • Dopamine D receptor gene
  • Essential tremor
  • Genetics
  • Non-Mendelian inheritance
  • Variant

ASJC Scopus subject areas

  • Neuroscience(all)
  • Medicine(all)

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