Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia

Rachel Saunders-Pullman, Richard B. Lipton, Geetha Senthil, Mindy Katz, Camille Costan-Toth, Carol Derby, Susan Bressman, Joe Verghese, Laurie J. Ozelius

Research output: Contribution to journalArticle

31 Scopus citations

Abstract

Mutations in leucine-rich repeat kinase 2 gene (LRRK2) have been associated with idiopathic Parkinson's disease (PD), as well as pleomorphic neurodegenerative pathology, including Alzheimer's disease. One specific LRRK2 mutation, G2019S, was reported in 18% of people with PD of Ashkenazi descent, supporting a founder effect in this population. To determine if this mutation is also associated with dementia in the Ashkenazim, we screened 192 elderly Ashkenazi Jewish (AJ) individuals in a longitudinal aging and cognition study, of whom 49 (25.5%) had dementia. Two non-demented individuals harbored the mutation (2/143, 1.4%), but no individuals with dementia. Neither person with the mutation had Parkinson's disease. Therefore, the LRRK2 mutation has a relatively high frequency in the AJ population, is not fully penetrant for parkinsonism in the elderly, and does not appear to be commonly associated with late-onset dementia.

Original languageEnglish (US)
Pages (from-to)92-96
Number of pages5
JournalNeuroscience Letters
Volume402
Issue number1-2
DOIs
StatePublished - Jul 10 2006

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Keywords

  • Ashkenazi Jews
  • Dementia
  • LRRK2 (leucine-rich repeat kinase 2)
  • Parkinson's disease

ASJC Scopus subject areas

  • Neuroscience(all)

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