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 Joy Katz, Camille Costan-Toth, Carol A. Derby, Susan Bressman, Joe Verghese, Laurie J. Ozelius

Research output: Contribution to journalArticle

31 Citations (Scopus)

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

Fingerprint

Leucine
Dementia
Phosphotransferases
Mutation
Population
Genes
Parkinson Disease
Founder Effect
Parkinsonian Disorders
Cognition
Alzheimer Disease
Pathology

Keywords

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

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia. / Saunders-Pullman, Rachel; Lipton, Richard B.; Senthil, Geetha; Katz, Mindy Joy; Costan-Toth, Camille; Derby, Carol A.; Bressman, Susan; Verghese, Joe; Ozelius, Laurie J.

In: Neuroscience Letters, Vol. 402, No. 1-2, 10.07.2006, p. 92-96.

Research output: Contribution to journalArticle

Saunders-Pullman, Rachel ; Lipton, Richard B. ; Senthil, Geetha ; Katz, Mindy Joy ; Costan-Toth, Camille ; Derby, Carol A. ; Bressman, Susan ; Verghese, Joe ; Ozelius, Laurie J. / Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia. In: Neuroscience Letters. 2006 ; Vol. 402, No. 1-2. pp. 92-96.
@article{35127c4d8e1a497c893bd19803c5d535,
title = "Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia",
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.",
keywords = "Ashkenazi Jews, Dementia, LRRK2 (leucine-rich repeat kinase 2), Parkinson's disease",
author = "Rachel Saunders-Pullman and Lipton, {Richard B.} and Geetha Senthil and Katz, {Mindy Joy} and Camille Costan-Toth and Derby, {Carol A.} and Susan Bressman and Joe Verghese and Ozelius, {Laurie J.}",
year = "2006",
month = "7",
day = "10",
doi = "10.1016/j.neulet.2006.03.044",
language = "English (US)",
volume = "402",
pages = "92--96",
journal = "Neuroscience Letters",
issn = "0304-3940",
publisher = "Elsevier Ireland Ltd",
number = "1-2",

}

TY - JOUR

T1 - Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia

AU - Saunders-Pullman, Rachel

AU - Lipton, Richard B.

AU - Senthil, Geetha

AU - Katz, Mindy Joy

AU - Costan-Toth, Camille

AU - Derby, Carol A.

AU - Bressman, Susan

AU - Verghese, Joe

AU - Ozelius, Laurie J.

PY - 2006/7/10

Y1 - 2006/7/10

N2 - 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.

AB - 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.

KW - Ashkenazi Jews

KW - Dementia

KW - LRRK2 (leucine-rich repeat kinase 2)

KW - Parkinson's disease

UR - http://www.scopus.com/inward/record.url?scp=33646887782&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33646887782&partnerID=8YFLogxK

U2 - 10.1016/j.neulet.2006.03.044

DO - 10.1016/j.neulet.2006.03.044

M3 - Article

VL - 402

SP - 92

EP - 96

JO - Neuroscience Letters

JF - Neuroscience Letters

SN - 0304-3940

IS - 1-2

ER -