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
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.
KW - Ashkenazi Jews
KW - Dementia
KW - LRRK2 (leucine-rich repeat kinase 2)
KW - Parkinson's disease
UR - https://www.scopus.com/pages/publications/33646887782
U2 - 10.1016/j.neulet.2006.03.044
DO - 10.1016/j.neulet.2006.03.044
M3 - Article
C2 - 16632201
AN - SCOPUS:33646887782
SN - 0304-3940
VL - 402
SP - 92
EP - 96
JO - Neuroscience Letters
JF - Neuroscience Letters
IS - 1-2
ER -