The genetic epidemidogy of neurodegenerative disease

被引:431
作者
Bertram, L [1 ]
Tanzi, RE [1 ]
机构
[1] Harvard Univ, Massachusetts Gen Hosp, Sch Med,MassGen Inst Neurodegenerat Dis, Genet & Aging Res Unit,Dept Neurol, Charlestown, MA 02129 USA
关键词
D O I
10.1172/JCI24761
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
Gene defects play a major role in the pathogenesis of degenerative disorders of the nervous system. In fact, it has been the very knowledge gained from genetic studies that has allowed the elucidation of the molecular mechanisms underlying the etiology and pathogenesis of many neurodegenerative disorders. In this review, we discuss the current status of genetic epidemiology of the most common neurodegenerative diseases: Alzheimer disease, Parkinson disease, Lewy body dementia, frontotemporal dementia, amyotrophic lateral sclerosis, Huntington disease, and prion diseases, with a particular focus on similarities and differences among these syndromes.
引用
收藏
页码:1449 / 1457
页数:9
相关论文
共 99 条
  • [12] Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum
    Campion, D
    Dumanchin, C
    Hannequin, D
    Dubois, B
    Belliard, S
    Puel, M
    Thomas-Anterion, C
    Michon, A
    Martin, C
    Charbonnier, F
    Raux, G
    Camuzat, A
    Penet, C
    Mesnage, V
    Martinez, M
    Clerget-Darpoux, F
    Brice, A
    Frebourg, T
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (03) : 664 - 670
  • [13] α-synuclein locus duplication as a cause of familial Parkinson's disease
    Chartier-Harlin, MC
    Kachergus, J
    Roumier, C
    Mouroux, V
    Douay, X
    Lincoln, S
    Levecque, C
    Larvor, L
    Andrieux, J
    Hulihan, M
    Waucquier, N
    Defebvre, L
    Amouyel, P
    Farrer, M
    Destée, A
    [J]. LANCET, 2004, 364 (9440) : 1167 - 1169
  • [14] Problems of reporting genetic associations with complex outcomes
    Colhoun, HM
    McKeigue, PM
    Smith, GD
    [J]. LANCET, 2003, 361 (9360) : 865 - 872
  • [15] GENETIC PREDISPOSITION TO IATROGENIC CREUTZFELDT-JAKOB DISEASE
    COLLINGE, J
    PALMER, MS
    DRYDEN, AJ
    [J]. LANCET, 1991, 337 (8755) : 1441 - 1442
  • [16] Genetic evidence for the involvement of tau in progressive supranuclear palsy
    Conrad, C
    Andreadis, A
    Trojanowski, JQ
    Dickson, DW
    Kang, D
    Chen, XH
    Wiederholt, W
    Hansen, L
    Masliah, E
    Thal, LJ
    Katzman, R
    Xia, Y
    Saitoh, T
    [J]. ANNALS OF NEUROLOGY, 1997, 41 (02) : 277 - 281
  • [17] Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population based study of presenile Alzheimer disease
    Cruts, M
    van Duijn, CM
    Backhovens, H
    Van den Broeck, M
    Wehnert, A
    Serneels, S
    Sherrington, R
    Hutton, M
    Hardy, J
    St George-Hyslop, PH
    Hofman, A
    Van Broeckhoven, C
    [J]. HUMAN MOLECULAR GENETICS, 1998, 7 (01) : 43 - 51
  • [18] Curtis D, 2001, ANN HUM GENET, V65, P473, DOI 10.1017/S0003480001008776
  • [19] The number of trait loci in late-onset Alzheimer disease
    Daw, EW
    Payami, H
    Nemens, EJ
    Nochlin, D
    Bird, TD
    Schellenberg, GD
    Wijsman, EM
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (01) : 196 - 204
  • [20] de la Fuente-Fernández R, 2003, NEUROLOGY, V60, P1561, DOI 10.1212/WNL.60.9.1561