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

被引:25
作者
Saunders-Pullman, Rachel [1 ]
Lipton, Richard B.
Senthil, Geetha
Katz, Mindy
Costan-Toth, Camille
Derby, Carol
Bressman, Susan
Verghese, Joe
Ozelius, Laurie J.
机构
[1] Albert Einstein Coll Med, Dept Neurol, Bronx, NY 10467 USA
[2] Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10467 USA
[3] Albert Einstein Coll Med, Dept Psychiat & Behav Sci, Bronx, NY 10467 USA
[4] Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10467 USA
[5] Beth Israel Deaconess Med Ctr, Dept Neurol, PACC, New York, NY 10003 USA
基金
美国国家卫生研究院;
关键词
Parkinson's disease; LRRK2 (leucine-rich repeat kinase 2); dementia; Ashkenazi Jews; AUTOSOMAL-DOMINANT PARKINSONISM; ALZHEIMERS-DISEASE; MEMORY IMPAIRMENT; COMMON FOUNDER; GENE; DIAGNOSIS; CRITERIA; ONSET; IDENTIFICATION; SCREEN;
D O I
10.1016/j.neulet.2006.03.044
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
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. (c) 2006 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码:92 / 96
页数:5
相关论文
共 45 条
  • [1] Clinical features of LRRK2-associated Parkinson's disease in Central Norway
    Aasly, JO
    Toft, M
    Fernandez-Mata, I
    Kachergus, J
    Hulihan, M
    White, LR
    Farrer, M
    [J]. ANNALS OF NEUROLOGY, 2005, 57 (05) : 762 - 765
  • [2] ASSOCIATION BETWEEN QUANTITATIVE MEASURES OF DEMENTIA AND OF SENILE CHANGE IN CEREBRAL GREY MATTER OF ELDERLY SUBJECTS
    BLESSED, G
    TOMLINSON, BE
    ROTH, M
    [J]. BRITISH JOURNAL OF PSYCHIATRY, 1968, 114 (512) : 797 - +
  • [3] CUED-RECALL IN AMNESIA
    BUSCHKE, H
    [J]. JOURNAL OF CLINICAL NEUROPSYCHOLOGY, 1984, 6 (04): : 433 - 440
  • [4] CRITERIA FOR THE DIAGNOSIS OF ISCHEMIC VASCULAR DEMENTIA PROPOSED BY THE STATE OF CALIFORNIA ALZHEIMERS-DISEASE-DIAGNOSTIC-AND-TREATMENT-CENTERS
    CHUI, HC
    VICTOROFF, JI
    MARGOLIN, D
    JAGUST, W
    SHANKLE, R
    KATZMAN, R
    [J]. NEUROLOGY, 1992, 42 (03) : 473 - 480
  • [5] The relative frequency of "dementia of unknown etiology" increases with age and is nearly 50% in nonagenarians
    Crystal, HA
    Dickson, D
    Davies, P
    Masur, D
    Grober, E
    Lipton, RB
    [J]. ARCHIVES OF NEUROLOGY, 2000, 57 (05) : 713 - 719
  • [6] Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation
    Deng, H
    Le, WD
    Guo, Y
    Hunter, CB
    Xie, WJ
    Jankovic, J
    [J]. ANNALS OF NEUROLOGY, 2005, 57 (06) : 933 - 934
  • [7] A population perspective on diagnostic criteria for Parkinson's disease
    deRijk, MC
    Rocca, WA
    Anderson, DW
    Melcon, MO
    Breteler, MMB
    Maraganore, DM
    [J]. NEUROLOGY, 1997, 48 (05) : 1277 - 1281
  • [8] Di Fonzo A, 2005, LANCET, V365, P412
  • [9] LRRK2 mutations in Parkinson disease
    Farrer, M
    Stone, J
    Mata, IF
    Lincoln, S
    Kachergus, J
    Hulihan, M
    Strain, KJ
    Maraganore, DM
    [J]. NEUROLOGY, 2005, 65 (05) : 738 - 740
  • [10] Common LRRK2 mutation in idiopathic Parkinson's disease
    Gilks, WP
    Abou-Sleiman, PM
    Gandhi, S
    Jain, S
    Singleton, A
    Lees, AJ
    Shaw, K
    Bhatia, KP
    Bonifati, V
    Quinn, NP
    Lynch, J
    Healy, DG
    Holton, JL
    Revesz, T
    Wood, NW
    [J]. LANCET, 2005, 365 (9457) : 415 - 416