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

doi:10.1016/j.neulet.2006.03.044

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 journal › Article › peer-review

32 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 language	English
Pages (from-to)	92-96
Number of pages	5
Journal	Neuroscience Letters
Volume	402
Issue number	1-2
DOIs	https://doi.org/10.1016/j.neulet.2006.03.044
State	Published - 10 Jul 2006
Externally published	Yes

Keywords

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

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10.1016/j.neulet.2006.03.044

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@article{f8198cc8fa22415eb214bd33b6578a57,

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 Mindy Katz and Camille Costan-Toth and Carol Derby and Susan Bressman and Joe Verghese and Ozelius, {Laurie J.}",

note = "Funding Information: We would like to thank the Einstein Aging Study subjects for their gracious participation, and Drs. Nir Barzilai and Gil Atzmon for preparing the DNA samples. This study was funded by the NIH (NS-047256 04, RSP, AG-03949, RBL), the Thomas Hartman Foundation for Parkinson's Research, the Edwin and Caroline Levy Foundation, and the Michael J Fox Foundation for Parkinson's Research.",

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journal = "Neuroscience Letters",

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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

AU - Costan-Toth, Camille

AU - Derby, Carol

AU - Bressman, Susan

AU - Verghese, Joe

AU - Ozelius, Laurie J.

N1 - Funding Information: We would like to thank the Einstein Aging Study subjects for their gracious participation, and Drs. Nir Barzilai and Gil Atzmon for preparing the DNA samples. This study was funded by the NIH (NS-047256 04, RSP, AG-03949, RBL), the Thomas Hartman Foundation for Parkinson's Research, the Edwin and Caroline Levy Foundation, and the Michael J Fox Foundation for Parkinson's Research.

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.

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

Abstract

Keywords

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