The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor

Hao Deng, Weidong Le, Anthony L. Davidson, Wen Jie Xie, Joseph Jankovic

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

Several mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified both in familial and sporadic cases of Parkinson's disease (PD). G2019S, located at a kinase (MAPKKK) domain, is the most common mutation in the LRRK2 gene in PD, Two adjacent mutations (I2012T and I2020T) were mapped to the same domain suggesting shared pathogenic mechanism of these mutations. Since phenotypes of PD overlap with essential tremor (ET), we investigated LRRK2 G2019S, I2012T, and I2020T mutations in a cohort of 272 patients with ET. No mutations were found in our ET cohort and, therefore, we conclude that LRKK2 I2012T, G2019S and I2020T variants are rare causes of Caucasian ET.

Original languageEnglish (US)
Pages (from-to)97-100
Number of pages4
JournalNeuroscience Letters
Volume407
Issue number2
DOIs
StatePublished - Oct 23 2006

Keywords

  • Essential tremor
  • G2019S
  • I2012T
  • I2020T
  • LRRK2
  • Parkinson's disease

ASJC Scopus subject areas

  • Neuroscience(all)

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