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Volumn 19, Issue 2, 2013, Pages 358-371

New genes and new insights from old genes: Update on alzheimer disease

Author keywords

[No Author keywords available]

Indexed keywords

ALZHEIMER DISEASE; AMYLOID PRECURSOR PROTEIN GENE; APOE GENE; FAMILIAL DISEASE; GENE; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; PRESENILIN 1 GENE; PRESENILIN 2 GENE; REVIEW; RISK FACTOR;

EID: 84876383766     PISSN: 10802371     EISSN: 15386899     Source Type: Journal    
DOI: 10.1212/01.CON.0000429179.21977.a1     Document Type: Review
Times cited : (28)

References (84)
  • 1
    • 79956142378 scopus 로고    scopus 로고
    • The diagnosis of dementia due to Alzheimer's disease: Recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease
    • McKhann GM, Knopman DS, Chertkow H, et al. The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 2011;7(3):263-269.
    • (2011) Alzheimers Dement , vol.7 , Issue.3 , pp. 263-269
    • McKhann, G.M.1    Knopman, D.S.2    Chertkow, H.3
  • 2
    • 84858225391 scopus 로고    scopus 로고
    • 2012 Alzheimer's disease facts and figures
    • Alzheimer's Association.
    • Alzheimer's Association. 2012 Alzheimer's disease facts and figures. Alzheimers Dement 2012;8(2):131-168.
    • (2012) Alzheimers Dement , vol.8 , Issue.2 , pp. 131-168
  • 3
    • 32244435907 scopus 로고    scopus 로고
    • Role of genes and environments for explaining Alzheimer disease
    • Gatz M, Reynolds CA, Fratiglioni L, et al. Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry 2006;63(2):168-174.
    • (2006) Arch Gen Psychiatry , vol.63 , Issue.2 , pp. 168-174
    • Gatz, M.1    Reynolds, C.A.2    Fratiglioni, L.3
  • 4
    • 0026088977 scopus 로고
    • Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
    • Goate A, Chartier-Harlin MC, Mullan M, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991;349(6311):704-706.
    • (1991) Nature , vol.349 , Issue.6311 , pp. 704-706
    • Goate, A.1    Chartier-Harlin, M.C.2    Mullan, M.3
  • 5
    • 0022297190 scopus 로고
    • Neuritic plaques and cerebrovascular amyloid in Alzheimer disease are antigenically related
    • Wong CW, Quaranta V, Glenner GG. Neuritic plaques and cerebrovascular amyloid in Alzheimer disease are antigenically related. Proc Natl Acad Sci USA 1985;82(24): 8729-8732.
    • (1985) Proc Natl Acad Sci USA , vol.82 , Issue.24 , pp. 8729-8732
    • Wong, C.W.1    Quaranta, V.2    Glenner, G.G.3
  • 6
    • 0021256895 scopus 로고
    • Alzheimer's disease: Initial report of the purification and characterization of a novel cerebrovascular amyloid protein
    • Glenner GG, Wong CW. Alzheimer's disease: initial report of the purification and characterization of a novel cerebrovascular amyloid protein. Biochem Biophys Res Commun 1984;120(3):885-890.
    • (1984) Biochem Biophys Res Commun , vol.120 , Issue.3 , pp. 885-890
    • Glenner, G.G.1    Wong, C.W.2
  • 7
    • 0023132387 scopus 로고
    • Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease
    • Goldgaber D, Lerman MI, McBride OW, et al. Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease. Science 1987;235(4791):877-880.
    • (1987) Science , vol.235 , Issue.4791 , pp. 877-880
    • Goldgaber, D.1    Lerman, M.I.2    McBride, O.W.3
  • 8
    • 0023105114 scopus 로고
    • The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor
    • Kang J, Lemaire HG, Unterbeck A, et al. The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor. Nature 1987;325(6106):733-736.
    • (1987) Nature , vol.325 , Issue.6106 , pp. 733-736
    • Kang, J.1    Lemaire, H.G.2    Unterbeck, A.3
  • 9
    • 0023109592 scopus 로고
    • Amyloid beta protein gene: CDNA, mRNA distribution, and genetic linkage near the Alzheimer locus
    • Tanzi RE, Gusella JF, Watkins PC, et al. Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science 1987;235(4791): 880-884.
    • (1987) Science , vol.235 , Issue.4791 , pp. 880-884
    • Tanzi, R.E.1    Gusella, J.F.2    Watkins, P.C.3
  • 10
    • 0029004341 scopus 로고
    • Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
    • Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995;375(6534):754-760.
    • (1995) Nature , vol.375 , Issue.6534 , pp. 754-760
    • Sherrington, R.1    Rogaev, E.I.2    Liang, Y.3
  • 11
    • 16044373524 scopus 로고    scopus 로고
    • Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease
    • Scheuner D, Eckman C, Jensen M, et al. Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nat Med 1996; 2(8):864-870.
    • (1996) Nat Med , vol.2 , Issue.8 , pp. 864-870
    • Scheuner, D.1    Eckman, C.2    Jensen, M.3
  • 12
    • 84857642949 scopus 로고    scopus 로고
    • The toxic Aα oligomer and Alzheimer's disease: An emperor in need of clothes
    • Benilova I, Karran E, De Strooper B. The toxic Aα oligomer and Alzheimer's disease: an emperor in need of clothes. Nat Neurosci 2012;15(3):349-357.
    • (2012) Nat Neurosci , vol.15 , Issue.3 , pp. 349-357
    • Benilova, I.1    Karran, E.2    De Strooper, B.3
  • 13
    • 0021264594 scopus 로고
    • Alzheimer's presenile dementia senile dementia of Alzheimer type and Down's syndrome in middle age form an age related continuum of pathological changes
    • Mann DM, Yates PO, Marcyniuk B. Alzheimer's presenile dementia, senile dementia of Alzheimer type and Down's syndrome in middle age form an age related continuum of pathological changes. Neuropathol Appl Neurobiol 1984;10(3): 185-207.
    • (1984) Neuropathol Appl Neurobiol , vol.10 , Issue.3 , pp. 185-207
    • Mann, D.M.1    Yates, P.O.2    Marcyniuk, B.3
  • 14
    • 40849113052 scopus 로고    scopus 로고
    • Mosaicism for trisomy 21 in a patient with young-onset dementia: A case report and brief literature review
    • Ringman JM, Rao PN, Lu PH, Cederbaum S. Mosaicism for trisomy 21 in a patient with young-onset dementia: a case report and brief literature review. Arch Neurol 2008a; 65(3):412-415.
    • (2008) Arch Neurol , vol.65 , Issue.3 , pp. 412-415
    • Ringman, J.M.1    Rao, P.N.2    Lu, P.H.3    Cederbaum, S.4
  • 15
    • 29444442794 scopus 로고    scopus 로고
    • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
    • Rovelet-Lecrux A, Hannequin D, Raux G, et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006;38(1):24-26.
    • (2006) Nat Genet , vol.38 , Issue.1 , pp. 24-26
    • Rovelet-Lecrux, A.1    Hannequin, D.2    Raux, G.3
  • 16
    • 47149112621 scopus 로고    scopus 로고
    • Long-term effects of Abeta42 immunisation in Alzheimer's disease: Follow-up of a randomised, placebo-controlled phase i trial
    • Holmes C, Boche D, Wilkinson D, et al. Long-term effects of Abeta42 immunisation in Alzheimer's disease: follow-up of a randomised, placebo-controlled phase I trial. Lancet 2008;372(9634):216-223.
    • (2008) Lancet , vol.372 , Issue.9634 , pp. 216-223
    • Holmes, C.1    Boche, D.2    Wilkinson, D.3
  • 17
    • 0027219223 scopus 로고
    • Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val-Ile mutation in the amyloid precursor protein gene
    • Mullan M, Tsuji S, Miki T, et al. Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val-Ile mutation in the amyloid precursor protein gene. Neurobiol Aging 1993;14(5): 407-419.
    • (1993) Neurobiol Aging , vol.14 , Issue.5 , pp. 407-419
    • Mullan, M.1    Tsuji, S.2    Miki, T.3
  • 18
    • 47549117283 scopus 로고    scopus 로고
    • Biochemical markers in persons with preclinical familial Alzheimer disease
    • Ringman JM, Younkin SG, Pratico D, et al. Biochemical markers in persons with preclinical familial Alzheimer disease. Neurology 2008;71(2):85-92.
    • (2008) Neurology , vol.71 , Issue.2 , pp. 85-92
    • Ringman, J.M.1    Younkin, S.G.2    Pratico, D.3
  • 19
    • 42249102801 scopus 로고    scopus 로고
    • Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease
    • Basun H, Bogdanovic N, Ingelsson M, et al. Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. Arch Neurol 2008;65(24):499-505.
    • (2008) Arch Neurol , vol.65 , Issue.24 , pp. 499-505
    • Basun, H.1    Bogdanovic, N.2    Ingelsson, M.3
  • 20
    • 0026879650 scopus 로고
    • Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene
    • Hendriks L, van Duijn CM, Cras P, et al. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nat Genet 1992;1(3):218-221.
    • (1992) Nat Genet , vol.1 , Issue.3 , pp. 218-221
    • Hendriks, L.1    Van Duijn, C.M.2    Cras, P.3
  • 21
    • 0025296269 scopus 로고
    • Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type
    • Levy E, Carman MD, Fernandez-Madrid IJ, et al. Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science 1990; 248(4959):1124-1126.
    • (1990) Science , vol.248 , Issue.4959 , pp. 1124-1126
    • Levy, E.1    Carman, M.D.2    Fernandez-Madrid, I.J.3
  • 22
    • 84864471159 scopus 로고    scopus 로고
    • A mutation in APP protects against Alzheimer's disease and age-related cognitive decline
    • Jonsson T, Atwal JK, Steinberg S, et al. A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature 2012;488(7409):96-99.
    • (2012) Nature , vol.488 , Issue.7409 , pp. 96-99
    • Jonsson, T.1    Atwal, J.K.2    Steinberg, S.3
  • 23
    • 0032556859 scopus 로고    scopus 로고
    • Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein
    • De Strooper B, Saftig P, Craessaerts K, et al. Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein. Nature 1998;391(6665):387-390.
    • (1998) Nature , vol.391 , Issue.6665 , pp. 387-390
    • De Strooper, B.1    Saftig, P.2    Craessaerts, K.3
  • 24
    • 15244341378 scopus 로고    scopus 로고
    • Familial Alzheimer's disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein
    • Berezovska O, Lleo A, Herl LD, et al. Familial Alzheimer's disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein. J Neurosci 2005;25(11): 3009-3017.
    • (2005) J Neurosci , vol.25 , Issue.11 , pp. 3009-3017
    • Berezovska, O.1    Lleo, A.2    Herl, L.D.3
  • 25
    • 0031686460 scopus 로고    scopus 로고
    • Presenilin 1 mutations linked to familial Alzheimer's disease increase the intracellular levels of amyloid beta-protein 1-42 and its N-terminally truncated variant(s) which are generated at distinct sites
    • Sudoh S, Kawamura Y, Sato S, et al. Presenilin 1 mutations linked to familial Alzheimer's disease increase the intracellular levels of amyloid beta-protein 1-42 and its N-terminally truncated variant(s) which are generated at distinct sites. J Neurochem 1998;71(4):1535-1543.
    • (1998) J Neurochem , vol.71 , Issue.4 , pp. 1535-1543
    • Sudoh, S.1    Kawamura, Y.2    Sato, S.3
  • 26
    • 8044226013 scopus 로고    scopus 로고
    • Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation
    • Lopera F, Ardilla A, Martínez A, et al. Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. JAMA 1997;277(10):793-799.
    • (1997) JAMA , vol.277 , Issue.10 , pp. 793-799
    • Lopera, F.1    Ardilla, A.2    Martínez, A.3
  • 27
    • 0035860986 scopus 로고    scopus 로고
    • A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families
    • Athan ES, Williamson J, Ciappa A, et al. A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. JAMA 2001; 286(18):2257-2263.
    • (2001) JAMA , vol.286 , Issue.18 , pp. 2257-2263
    • Athan, E.S.1    Williamson, J.2    Ciappa, A.3
  • 28
    • 33750037617 scopus 로고    scopus 로고
    • The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: An additional fifteen families
    • Murrell J, Ghetti B, Cochran E, et al. The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. Neurogenetics 2006;7(4):277-279.
    • (2006) Neurogenetics , vol.7 , Issue.4 , pp. 277-279
    • Murrell, J.1    Ghetti, B.2    Cochran, E.3
  • 29
    • 0033848935 scopus 로고    scopus 로고
    • Familial Alzheimer's disease: Site of mutation influences clinical phenotype
    • Lippa CF, Swearer JM, Kane KJ, et al. Familial Alzheimer's disease: site of mutation influences clinical phenotype. Ann Neurol 2000;48(3):376-379.
    • (2000) Ann Neurol , vol.48 , Issue.3 , pp. 376-379
    • Lippa, C.F.1    Swearer, J.M.2    Kane, K.J.3
  • 30
    • 36649035723 scopus 로고    scopus 로고
    • The genetics of very early onset Alzheimer disease
    • Filley CM, Rollins YD, Anderson CA, et al. The genetics of very early onset Alzheimer disease. Cogn Behav Neurol 2007;20(3): 149-156.
    • (2007) Cogn Behav Neurol , vol.20 , Issue.3 , pp. 149-156
    • Filley, C.M.1    Rollins, Y.D.2    Anderson, C.A.3
  • 31
    • 84856541277 scopus 로고    scopus 로고
    • Rare variants in APP PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families
    • Cruchaga C, Haller G, Chakraverty S, et al. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. PLoS One 2012;7(2):e31039.
    • (2012) PLoS One , vol.7 , Issue.2
    • Cruchaga, C.1    Haller, G.2    Chakraverty, S.3
  • 32
    • 0033762710 scopus 로고    scopus 로고
    • Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations
    • Houlden H, Baker M, McGowan E, et al. Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations. Ann Neurol 2000;48(5):806-808.
    • (2000) Ann Neurol , vol.48 , Issue.5 , pp. 806-808
    • Houlden, H.1    Baker, M.2    McGowan, E.3
  • 33
    • 0027971051 scopus 로고
    • Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred
    • Lampe TH, Bird TD, Nochlin D, et al. Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred. Ann Neurol 1994;36(3):368-378.
    • (1994) Ann Neurol , vol.36 , Issue.3 , pp. 368-378
    • Lampe, T.H.1    Bird, T.D.2    Nochlin, D.3
  • 34
    • 84867328267 scopus 로고    scopus 로고
    • Comparison of clinical characteristics between familial and non-familial early onset Alzheimer's disease
    • Joshi A, Ringman JM, Lee AS, et al. Comparison of clinical characteristics between familial and non-familial early onset Alzheimer's disease. J Neurol 2012; 259(10):2182-2188.
    • (2012) J Neurol , vol.259 , Issue.10 , pp. 2182-2188
    • Joshi, A.1    Ringman, J.M.2    Lee, A.S.3
  • 35
    • 77950815769 scopus 로고    scopus 로고
    • Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2
    • Jayadev S, Leverenz JB, Steinbart E, et al. Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. Brain 2010;133(pt 4): 1143-1154.
    • (2010) Brain , vol.133 , Issue.PART 4 , pp. 1143-1154
    • Jayadev, S.1    Leverenz, J.B.2    Steinbart, E.3
  • 36
    • 13244299288 scopus 로고    scopus 로고
    • Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios
    • Walker ES, Martinez M, Brunkan AL, Goate A. Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios. J Neurochem 2005;92(2):294-301.
    • (2005) J Neurochem , vol.92 , Issue.2 , pp. 294-301
    • Walker, E.S.1    Martinez, M.2    Brunkan, A.L.3    Goate, A.4
  • 37
    • 28444446695 scopus 로고    scopus 로고
    • What the study of persons at risk for familial Alzheimer's disease can tell us about the earliest stages of the disorder: A review
    • Ringman JM. What the study of persons at risk for familial Alzheimer's disease can tell us about the earliest stages of the disorder: a review. J Geriatr Psychiatry Neurol 2005; 18(4):228-233.
    • (2005) J Geriatr Psychiatry Neurol , vol.18 , Issue.4 , pp. 228-233
    • Ringman, J.M.1
  • 38
    • 79951726286 scopus 로고    scopus 로고
    • Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: A retrospective cohort study
    • Acosta-Baena N, Sepulveda-Falla D, Lopera-Gómez CM, et al. Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retrospective cohort study. Lancet Neurol 2011;10(3): 213-220.
    • (2011) Lancet Neurol , vol.10 , Issue.3 , pp. 213-220
    • Acosta-Baena, N.1    Sepulveda-Falla, D.2    Lopera-Gómez, C.M.3
  • 39
    • 84869126018 scopus 로고    scopus 로고
    • Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 E280A kindred: A case-control study
    • Reiman EM, Quiroz YT, Fleisher AS, et al. Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 E280A kindred: a case-control study. Lancet Neurol 2012; 11(12):1048-1056.
    • (2012) Lancet Neurol , vol.11 , Issue.12 , pp. 1048-1056
    • Reiman, E.M.1    Quiroz, Y.T.2    Fleisher, A.S.3
  • 40
    • 84869116509 scopus 로고    scopus 로고
    • Florbetapir PET analysis of amyloid-α deposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: A cross-sectional study
    • Fleisher AS, Chen K, Quiroz YT, et al. Florbetapir PET analysis of amyloid-α deposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional study. Lancet Neurol 2012;11(12):1057-1065.
    • (2012) Lancet Neurol , vol.11 , Issue.12 , pp. 1057-1065
    • Fleisher, A.S.1    Chen, K.2    Quiroz, Y.T.3
  • 41
    • 84865529158 scopus 로고    scopus 로고
    • Clinical and biomarker changes in dominantly inherited Alzheimer's disease
    • Bateman RJ, Xiong C, Benzinger TLS, et al. Clinical and biomarker changes in dominantly inherited Alzheimer's disease. N Engl J Med 2012;367(9):795-804.
    • (2012) N Engl J Med , vol.367 , Issue.9 , pp. 795-804
    • Bateman, R.J.1    Xiong, C.2    Benzinger, T.L.S.3
  • 42
    • 0030823158 scopus 로고    scopus 로고
    • Effects of age, sex, and ethnicity on the association between apolipoprotein e genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium
    • Farrer LA, Cupples LA, Haines JL, et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA 1997; 278(16):1349-1356.
    • (1997) JAMA , vol.278 , Issue.16 , pp. 1349-1356
    • Farrer, L.A.1    Cupples, L.A.2    Haines, J.L.3
  • 43
    • 68249134074 scopus 로고    scopus 로고
    • The Role of apolipoprotein e in Alzheimer's disease
    • Kim J, Basak JM, Holtzman DM. The Role of apolipoprotein E in Alzheimer's disease. Neuron 2009;63(3):287-303.
    • (2009) Neuron , vol.63 , Issue.3 , pp. 287-303
    • Kim, J.1    Basak, J.M.2    Holtzman, D.M.3
  • 44
    • 79951713725 scopus 로고    scopus 로고
    • Apolipoprotein e in Alzheimer's disease and other neurological disorders
    • Verghese PB, Castellano JM, Holtzman DM. Apolipoprotein E in Alzheimer's disease and other neurological disorders. Lancet Neurol 2011;10(3):241-252.
    • (2011) Lancet Neurol , vol.10 , Issue.3 , pp. 241-252
    • Verghese, P.B.1    Castellano, J.M.2    Holtzman, D.M.3
  • 45
    • 0027365822 scopus 로고
    • Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein e genotype in late-onset Alzheimer disease
    • Schmechel DE, Saunders AM, Strittmatter WJ, et al. Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease. Proc Natl Acad Sci USA 1993;90(20):9649-9653.
    • (1993) Proc Natl Acad Sci USA , vol.90 , Issue.20 , pp. 9649-9653
    • Schmechel, D.E.1    Saunders, A.M.2    Strittmatter, W.J.3
  • 46
    • 2942536666 scopus 로고    scopus 로고
    • Impact of APOE genotype on neuropathologic and neurochemical markers of Alzheimer disease
    • Tiraboschi P, Hansen LA, Masliah E, et al. Impact of APOE genotype on neuropathologic and neurochemical markers of Alzheimer disease. Neurology 2004;62(11):1977-1983.
    • (2004) Neurology , vol.62 , Issue.11 , pp. 1977-1983
    • Tiraboschi, P.1    Hansen, L.A.2    Masliah, E.3
  • 47
    • 77649314191 scopus 로고    scopus 로고
    • APOE predicts amyloid-beta but not tau Alzheimer pathology in cognitively normal aging
    • Morris JC, Roe CM, Xiong C, et al. APOE predicts amyloid-beta but not tau Alzheimer pathology in cognitively normal aging. Ann Neurol 2010;67(1):122-131.
    • (2010) Ann Neurol , vol.67 , Issue.1 , pp. 122-131
    • Morris, J.C.1    Roe, C.M.2    Xiong, C.3
  • 48
    • 4243215848 scopus 로고    scopus 로고
    • Apolipoprotein e isoform-dependent amyloid deposition and neuritic degeneration in a mouse model of Alzheimer's disease
    • Holtzman DM, Bales KR, Tenkova T, et al. Apolipoprotein E isoform-dependent amyloid deposition and neuritic degeneration in a mouse model of Alzheimer's disease. Proc Natl Acad Sci USA 2000;97(6):2892-2897.
    • (2000) Proc Natl Acad Sci USA , vol.97 , Issue.6 , pp. 2892-2897
    • Holtzman, D.M.1    Bales, K.R.2    Tenkova, T.3
  • 49
    • 0027970307 scopus 로고
    • Acceleration of Alzheimer's fibril formation by apolipoprotein e in vitro
    • Wisniewski T, Castaño EM, Golabek A, et al. Acceleration of Alzheimer's fibril formation by apolipoprotein E in vitro. Am J Pathol 1994;145(5):1030-1035.
    • (1994) Am J Pathol , vol.145 , Issue.5 , pp. 1030-1035
    • Wisniewski, T.1    Castaño, E.M.2    Golabek, A.3
  • 50
    • 30044442937 scopus 로고    scopus 로고
    • Deletion of Abca1 increases Abeta deposition in the PDAPP transgenic mouse model of Alzheimer disease
    • Wahrle SE, Jiang H, Parsadanian M, et al. Deletion of Abca1 increases Abeta deposition in the PDAPP transgenic mouse model of Alzheimer disease. J Biol Chem 2005;280(5): 43236-43242.
    • (2005) J Biol Chem , vol.280 , Issue.5 , pp. 43236-43242
    • Wahrle, S.E.1    Jiang, H.2    Parsadanian, M.3
  • 51
    • 38849086036 scopus 로고    scopus 로고
    • Overexpression of ABCA1 reduces amyloid deposition in the PDAPP mouse model of Alzheimer disease
    • Wahrle SE, Jiang H, Parsadanian M, et al. Overexpression of ABCA1 reduces amyloid deposition in the PDAPP mouse model of Alzheimer disease. J Clin Invest 2008;118(2): 671-682.
    • (2008) J Clin Invest , vol.118 , Issue.2 , pp. 671-682
    • Wahrle, S.E.1    Jiang, H.2    Parsadanian, M.3
  • 52
    • 79959772357 scopus 로고    scopus 로고
    • Human apoE isoforms differentially regulate brain amyloid-α peptide clearance
    • Castellano JM, Kim J, Stewart FR, et al. Human apoE isoforms differentially regulate brain amyloid-α peptide clearance. Sci Transl Med 2011;3(89):89ra57.
    • (2011) Sci Transl Med , vol.3 , Issue.89
    • Castellano, J.M.1    Kim, J.2    Stewart, F.R.3
  • 53
    • 83055170873 scopus 로고    scopus 로고
    • Apolipoprotein e mimetics and cholesterol-lowering properties
    • Sharifov OF, Nayyar G, Garber DW, et al. Apolipoprotein E mimetics and cholesterol-lowering properties. Am J Cardiovasc Drugs 2011;11(6):371-381.
    • (2011) Am J Cardiovasc Drugs , vol.11 , Issue.6 , pp. 371-381
    • Sharifov, O.F.1    Nayyar, G.2    Garber, D.W.3
  • 54
    • 77956090575 scopus 로고    scopus 로고
    • Rosiglitazone monotherapy in mild-to-moderate Alzheimer's disease: Results from a randomized double-blind placebo-controlled phase III study
    • Gold M, Alderton C, Zvartau-Hind M, et al. Rosiglitazone monotherapy in mild-to-moderate Alzheimer's disease: results from a randomized, double-blind, placebo-controlled phase III study. Dement Geriatr Cogn Disord 2010;30(2):131-146.
    • (2010) Dement Geriatr Cogn Disord , vol.30 , Issue.2 , pp. 131-146
    • Gold, M.1    Alderton, C.2    Zvartau-Hind, M.3
  • 55
    • 84862777666 scopus 로고    scopus 로고
    • ApoE-directed therapeutics rapidly clear α-amyloid and reverse deficits in AD mouse models
    • Cramer PE, Cirrito JR, Wesson DW, et al. ApoE-directed therapeutics rapidly clear α-amyloid and reverse deficits in AD mouse models. Science 2012;335(6075): 1503-1506.
    • (2012) Science , vol.335 , Issue.6075 , pp. 1503-1506
    • Cramer, P.E.1    Cirrito, J.R.2    Wesson, D.W.3
  • 56
    • 0027194791 scopus 로고
    • Gene dose of apolipoprotein e type 4 allele and the risk of Alzheimer's disease in late onset families
    • Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993; 261(5123):921-923.
    • (1993) Science , vol.261 , Issue.5123 , pp. 921-923
    • Corder, E.H.1    Saunders, A.M.2    Strittmatter, W.J.3
  • 57
    • 0032507032 scopus 로고    scopus 로고
    • The APOE-epsilon4 allele and the risk of Alzheimer disease among African Americans, whites, and Hispanics
    • Tang MX, Stern Y, Marder K, et al. The APOE-epsilon4 allele and the risk of Alzheimer disease among African Americans, whites, and Hispanics. JAMA 1998;279(10):751-755.
    • (1998) JAMA , vol.279 , Issue.10 , pp. 751-755
    • Tang, M.X.1    Stern, Y.2    Marder, K.3
  • 58
    • 67650925282 scopus 로고    scopus 로고
    • Disclosure of APOE genotype for risk of Alzheimer's disease
    • Green RC, Roberts JS, Cupples LA, et al. Disclosure of APOE genotype for risk of Alzheimer's disease. New Engl J Med 2009; 361(3):245-254.
    • (2009) New Engl J Med , vol.361 , Issue.3 , pp. 245-254
    • Green, R.C.1    Roberts, J.S.2    Cupples, L.A.3
  • 59
    • 77949334767 scopus 로고    scopus 로고
    • Genetic variation at a single locus and age of onset for Alzheimer's disease
    • Lutz MW, Crenshaw DG, Saunders AM, Roses AD. Genetic variation at a single locus and age of onset for Alzheimer's disease. Alzheimers Dement 2010;6(2):125-131.
    • (2010) Alzheimers Dement , vol.6 , Issue.2 , pp. 125-131
    • Lutz, M.W.1    Crenshaw, D.G.2    Saunders, A.M.3    Roses, A.D.4
  • 60
    • 77957138140 scopus 로고    scopus 로고
    • A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease
    • Roses AD, Lutz MW, Amrine-Madsen H, et al. A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease. Pharmacogenomics 2010;10(5):375-384.
    • (2010) Pharmacogenomics , vol.10 , Issue.5 , pp. 375-384
    • Roses, A.D.1    Lutz, M.W.2    Amrine-Madsen, H.3
  • 61
    • 80053627404 scopus 로고    scopus 로고
    • TOMM40 poly-T repeat lengths age of onset and psychosis risk in Alzheimer disease
    • Chu SH, Roeder K, Ferrell RE, et al. TOMM40 poly-T repeat lengths, age of onset and psychosis risk in Alzheimer disease. Neurobiol Aging 2011;32(12):2328.e1-2328.e9.
    • (2011) Neurobiol Aging , vol.32 , Issue.12
    • Chu, S.H.1    Roeder, K.2    Ferrell, R.E.3
  • 62
    • 84867339613 scopus 로고    scopus 로고
    • Comprehensive search for Alzheimer disease susceptibility loci in the APOE region
    • Jun G, Vardarajan BN, Buros J, et al. Comprehensive search for Alzheimer disease susceptibility loci in the APOE region. Arch Neurol 2012:1-10.
    • Arch Neurol , vol.2012 , pp. 1-10
    • Jun, G.1    Vardarajan, B.N.2    Buros, J.3
  • 63
    • 84863081896 scopus 로고    scopus 로고
    • The role of variation at APP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease
    • Gerrish A, Russo G, Richards A, et al. The role of variation at APP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis 2012;28(2):377-387.
    • (2012) J Alzheimers Dis , vol.28 , Issue.2 , pp. 377-387
    • Gerrish, A.1    Russo, G.2    Richards, A.3
  • 64
    • 33845892752 scopus 로고    scopus 로고
    • Systematic meta-analyses of Alzheimer disease genetic association studies: The AlzGene database
    • Bertram L, McQueen MB, Mullin K, et al. Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nat Genet 2007;39(1):17-23.
    • (2007) Nat Genet , vol.39 , Issue.1 , pp. 17-23
    • Bertram, L.1    McQueen, M.B.2    Mullin, K.3
  • 65
    • 65949104586 scopus 로고    scopus 로고
    • Genomewide association studies and human disease
    • Hardy J, Singleton A. Genomewide association studies and human disease. N Engl J Med 2009;360(17):1759-1768.
    • (2009) N Engl J Med , vol.360 , Issue.17 , pp. 1759-1768
    • Hardy, J.1    Singleton, A.2
  • 66
    • 70349558522 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
    • Harold D, Abraham R, Hollingworth P, et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 2009; 41(10):1088-1093.
    • (2009) Nat Genet , vol.41 , Issue.10 , pp. 1088-1093
    • Harold, D.1    Abraham, R.2    Hollingworth, P.3
  • 67
    • 78549264026 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
    • Lambert J-C, Heath S, Even G, et al. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet 2009;41(10): 1094-1099.
    • (2009) Nat Genet , vol.41 , Issue.10 , pp. 1094-1099
    • Lambert, J.-C.1    Heath, S.2    Even, G.3
  • 68
    • 79955464911 scopus 로고    scopus 로고
    • Common variants at MS4A4/MS4A6E CD2AP CD33 and EPHA1 are associated with late-onset Alzheimer's disease
    • Naj AC, Jun G, Beecham GW, et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet 2011;43(5): 436-441.
    • (2011) Nat Genet , vol.43 , Issue.5 , pp. 436-441
    • Naj, A.C.1    Jun, G.2    Beecham, G.W.3
  • 69
    • 79955484414 scopus 로고    scopus 로고
    • Common variants at ABCA7 MS4A6A/MS4A4E EPHA1 CD33 and CD2AP are associated with Alzheimer's disease
    • Hollingworth P, Harold D, Sims R, et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet 2011;43(5):429-435.
    • (2011) Nat Genet , vol.43 , Issue.5 , pp. 429-435
    • Hollingworth, P.1    Harold, D.2    Sims, R.3
  • 70
    • 77952307991 scopus 로고    scopus 로고
    • Genome-wide analysis of genetic loci associated with Alzheimer disease
    • Seshadri S, Fitzpatrick AL, Ikram AA, et al. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 2010;303(18):1832-1840.
    • (2010) JAMA , vol.303 , Issue.18 , pp. 1832-1840
    • Seshadri, S.1    Fitzpatrick, A.L.2    Ikram, A.A.3
  • 71
    • 70349557788 scopus 로고    scopus 로고
    • Clusterin: A forgotten player in Alzheimer's disease
    • Nuutinen T, Suuronen T, Kauppinen A, et al. Clusterin: a forgotten player in Alzheimer's disease. Brain Res Rev 2009;61(2): 89-104.
    • (2009) Brain Res Rev , vol.61 , Issue.2 , pp. 89-104
    • Nuutinen, T.1    Suuronen, T.2    Kauppinen, A.3
  • 72
    • 84856228504 scopus 로고    scopus 로고
    • Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites
    • Brouwers N, Van Cauwenberghe C, Engelborghs S, et al. Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites. Mol Psychiatry 2012;17(2):223-233.
    • (2012) Mol Psychiatry , vol.17 , Issue.2 , pp. 223-233
    • Brouwers, N.1    Van Cauwenberghe, C.2    Engelborghs, S.3
  • 73
    • 77957965527 scopus 로고    scopus 로고
    • Distribution and expression of picalm in Alzheimer disease
    • Baig S, Joseph SA, Tayler H, et al. Distribution and expression of picalm in Alzheimer disease. J Neuropathol Exp Neurol 2010;69(10):1071-1077.
    • (2010) J Neuropathol Exp Neurol , vol.69 , Issue.10 , pp. 1071-1077
    • Baig, S.1    Joseph, S.A.2    Tayler, H.3
  • 74
    • 79957604912 scopus 로고    scopus 로고
    • Genetics of Alzheimer's disease: New evidences for an old hypothesis?
    • Lambert J-C, Amouyel P. Genetics of Alzheimer's disease: new evidences for an old hypothesis? Curr Opin Genet Dev 2011;21(3):295-301.
    • (2011) Curr Opin Genet Dev , vol.21 , Issue.3 , pp. 295-301
    • Lambert, J.-C.1    Amouyel, P.2
  • 75
    • 79961164438 scopus 로고    scopus 로고
    • Alzheimer's genetics in the GWAS era: A continuing story of ' replications and refutations'
    • Bertram L. Alzheimer's genetics in the GWAS era: a continuing story of ' replications and refutations'. Curr Neurol Neurosci Rep 2011;11(3):246-253.
    • (2011) Curr Neurol Neurosci Rep , vol.11 , Issue.3 , pp. 246-253
    • Bertram, L.1
  • 76
    • 84863980709 scopus 로고    scopus 로고
    • Genetic architectures of psychiatric disorders: The emerging picture and its implications
    • Sullivan PF, Daly MJ, O'Donovan M. Genetic architectures of psychiatric disorders: the emerging picture and its implications. Nat Rev Genet 2012;13(8):537-551.
    • (2012) Nat Rev Genet , vol.13 , Issue.8 , pp. 537-551
    • Sullivan, P.F.1    Daly, M.J.2    O'Donovan, M.3
  • 77
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009;461(7265):747-753.
    • (2009) Nature , vol.461 , Issue.7265 , pp. 747-753
    • Manolio, T.A.1    Collins, F.S.2    Cox, N.J.3
  • 78
    • 84864505483 scopus 로고    scopus 로고
    • Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases
    • Coppola G, Chinnathambi S, Lee JJ, et al. Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet 2012;21(15):3500-3512.
    • (2012) Hum Mol Genet , vol.21 , Issue.15 , pp. 3500-3512
    • Coppola, G.1    Chinnathambi, S.2    Lee, J.J.3
  • 79
    • 84876362754 scopus 로고    scopus 로고
    • Variant of TREM2 associated with the risk of Alzheimer's disease [published online ahead of print November 14, 2012]
    • doi:10.1056/NEJMe1213157
    • Jonsson T, Stefansson H, Phe DSS, et al. Variant of TREM2 associated with the risk of Alzheimer's disease [published online ahead of print November 14, 2012]. N Engl J Med 2012. doi:10.1056/NEJMe1213157.
    • (2012) N Engl J Med
    • Jonsson, T.1    Stefansson, H.2    Phe, D.S.S.3
  • 80
    • 84872057940 scopus 로고    scopus 로고
    • TREM2 variants in Alzheimer's disease [published online ahead of print November 14, 2012]
    • doi:10.1056/NEJMoa1211851
    • Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease [published online ahead of print November 14, 2012]. N Engl J Med 2012. doi:10.1056/NEJMoa1211851.
    • (2012) N Engl J Med
    • Guerreiro, R.1    Wojtas, A.2    Bras, J.3
  • 81
    • 84861202762 scopus 로고    scopus 로고
    • A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease
    • Rovelet-Lecrux A, Legallic S, Wallon D, et al. A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease. Eur J Hum Genet 2011; 20(6):613-617.
    • (2011) Eur J Hum Genet , vol.20 , Issue.6 , pp. 613-617
    • Rovelet-Lecrux, A.1    Legallic, S.2    Wallon, D.3
  • 82
    • 82755175640 scopus 로고    scopus 로고
    • Genetic risk prediction in complex disease
    • Jostins L, Barrett JC. Genetic risk prediction in complex disease. Hum Mol Genet 2011; 20(R2):R182-R188.
    • (2011) Hum Mol Genet , vol.20 , Issue.R2
    • Jostins, L.1    Barrett, J.C.2
  • 83
    • 84868336049 scopus 로고    scopus 로고
    • Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
    • Jostins L, Ripke S, Weersma RK, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 2012;491(7422):119-124.
    • (2012) Nature , vol.491 , Issue.7422 , pp. 119-124
    • Jostins, L.1    Ripke, S.2    Weersma, R.K.3
  • 84
    • 79959193198 scopus 로고    scopus 로고
    • Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors
    • Goldman JS, Hahn SE, Catania JW, et al. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med 2011;13(6):597-605.
    • (2011) Genet Med , vol.13 , Issue.6 , pp. 597-605
    • Goldman, J.S.1    Hahn, S.E.2    Catania, J.W.3


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