Review Article: Genetics of Alzheimer Disease
Open accessAbstract
Alzheimer disease (AD) is the most common causes of neurodegenerative disorder in the elderly individuals. Clinically, patients initially present with short-term memory loss, subsequently followed by executive dysfunction, confusion, agitation, and behavioral disturbances. Three causative genes have been associated with autosomal dominant familial AD (APP, PSEN1, and PSEN2) and 1 genetic risk factor (APOEε4 allele). Identification of these genes has led to a number of animal models that have been useful to study the pathogenesis underlying AD. In this article, we provide an overview of the clinical and genetic features of AD.
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Individuals with dominantly inherited Alzheimer's disease represent an estimated 1% or less of people with Alzheimer's who develop the disease from mutations to any of three specific genes.
“Individuals with DIAD represent the estimated 1% or less of people with Alzheimer's who develop the disease as a result of mutations to any of three specific genes.95”
From 2023 Alzheimer's disease facts and figures (2023) · cites this paper as [95]
The main genetic risk factor in sporadic Alzheimer's disease is the APOE gene.
“the main genetic risk factor in SAD is the APOE gene [91,92,93,94].”
From Alzheimer's Disease: Treatment Strategies and Their Limitations. (2022) · cites this paper as [93]
An estimated 1% or less of people living with Alzheimer's dementia develop the disease as a result of mutations to any of three specific genes.
“An estimated 1% or less of people living with Alzheimer's dementia develop the disease as a result of mutations to any of three specific genes.”
From 2024 Alzheimer's disease facts and figures (2024) · cites this paper as [102]
A majority of ADAD families carry a pathogenic mutation in one of three genes: APP, PSEN1, or PSEN2.
“A majority of ADAD families carry a pathogenic mutation in one of three genes: APP, presenilin 1 (PSEN1), or presenilin 2 (PSEN2) [2, 33].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [33]
Autosomal dominant Alzheimer's disease (ADAD) is very rare, accounting for less than 1% of all cases of Alzheimer's disease.
“ADAD is very rare, accounting for less than <1% of all cases of AD [2, 31–33]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [33]
Among individuals with late-onset AD, the ε4 allele is present at a two- to threefold higher rate compared to the general population, and some studies indicate up to 65% of clinically diagnosed cases carry at least one ε4 allele.
“In fact, among individuals that manifest late-onset AD, the ε4 allele is present at a two- to threefold higher rate compared to the general population, and some studies indicate up to 65% of clinically diagnosed cases carry at least one ε4 allele [45].”
From Atrophy of presubiculum and subiculum is the earliest hippocampal anatomical marker of Alzheimer's disease (2015) · cites this paper as [45]
Not all ε4 carriers develop AD, and not all AD patients are ε4 carriers; the ε2 allele seems to play a protective role.
“However, not all ε4 carriers develop AD, and not all AD patients are ε4 carriers; rather, the ε2 allele seems to play a protective role [45], [46].”
From Atrophy of presubiculum and subiculum is the earliest hippocampal anatomical marker of Alzheimer's disease (2015) · cites this paper as [45]
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Cites
McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D., & Stadlan, E. M. (1984) · Neurology · doi:10.1212/wnl.34.7.939 · Cited by 27,915 · see citing works
Neuropathological stageing of Alzheimer-related changes.
Braak, H., & Braak, E. (1991) · Acta Neuropathologica · doi:10.1007/bf00308809 · Cited by 16,123 · see citing works
Corder, E. H., Saunders, A. M., Strittmatter, W. J., Schmechel, D. E., Gaskell, P. C., Small, G. W., Roses, A. D., Haines, J. L., & Pericak-Vance, M. A. (1993) · Science · doi:10.1126/science.8346443 · Cited by 9,429 · see citing works
Alzheimer's Disease: Genes, Proteins, and Therapy
Selkoe, D. J. (2001) · Physiological Reviews · doi:10.1152/physrev.2001.81.2.741 · Cited by 6,063 · see citing works
Global prevalence of dementia: a Delphi consensus study
Ferri, C. P., Prince, M. J., Brayne, C., Brodaty, H., Fratiglioni, L., Ganguli, M., Hall, K. S., Hasegawa, K., Hendrie, H. C., Huang, Y., et al. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67889-0 · Cited by 5,336 · see citing works
Mirra, S. S., Heyman, A., McKeel, D., Sumi, S. M., Crain, B. J., Brownlee, L. M., Vogel, F. S., Hughes, J. P., Belle, G. V., Berg, L., et al. (1991) · Neurology · doi:10.1212/wnl.41.4.479 · Cited by 4,961 · see citing works
Goate, A., Chartier-Harlin, M.-C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Giuffra, L., Haynes, A., Irving, N., James, L., et al. (1991) · Nature · doi:10.1038/349704a0 · Cited by 4,659 · see citing works
The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor
Kang, J., Lemaire, H.-G., Unterbeck, A., Salbaum, J. M., Masters, C. L., Grzeschik, K.-H., Multhaup, G., Beyreuther, K., & Müller-Hill, B. (1987) · Nature · doi:10.1038/325733a0 · Cited by 4,619 · see citing works
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Sherrington, R., Rogaev, E. I., Liang, Y., Rogaeva, E. A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., et al. (1995) · Nature · doi:10.1038/375754a0 · Cited by 4,051 · see citing works
Vassar, R., Bennett, B. D., Babu-Khan, S., Kahn, S., Mendiaz, E. A., Denis, P., Teplow, D. B., Ross, S., Amarante, P., Loeloff, R., et al. (1999) · Science · doi:10.1126/science.286.5440.735 · Cited by 3,876 · see citing works
Scheuner, D., Eckman, C., Jensen, M., Song, X., Citron, M., Suzuki, N., Bird, T. D., Hardy, J., Hutton, M., Kukull, W., et al. (1996) · Nature Medicine · doi:10.1038/nm0896-864 · Cited by 2,599 · see citing works
Self-citationA Century of Alzheimer's Disease
Goedert, M., & Spillantini, M. G. (2006) · Science · doi:10.1126/science.1132814 · Cited by 2,106 · see citing works
A presenilin-1-dependent γ-secretase-like protease mediates release of Notch intracellular domain
De Strooper, B., Annaert, W., Cupers, P., Saftig, P., Craessaerts, K., Mumm, J. S., Schroeter, E. H., Schrijvers, V., Wolfe, M. S., Ray, W. J., et al. (1999) · Nature · doi:10.1038/19083 · Cited by 2,100 · see citing works
Rogaev, E. I., Sherrington, R., Rogaeva, E. A., Levesque, G., Ikeda, M., Liang, Y., Chi, H., Lin, C., Holman, K., Tsuda, T., et al. (1995) · Nature · doi:10.1038/376775a0 · Cited by 2,052 · see citing works
Wolfe, M. S., Xia, W., Ostaszewski, B. L., Diehl, T. S., Kimberly, W. T., & Selkoe, D. J. (1999) · Nature · doi:10.1038/19077 · Cited by 1,913 · see citing works
Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein
De Strooper, B., Saftig, P., Craessaerts, K., Vanderstichele, H., Guhde, G., Annaert, W., Von Figura, K., & Van Leuven, F. (1998) · Nature · doi:10.1038/34910 · Cited by 1,818 · see citing works
Iwatsubo, T., Odaka, A., Suzuki, N., Mizusawa, H., Nukina, N., & Ihara, Y. (1994) · Neuron · doi:10.1016/0896-6273(94)90458-8 · Cited by 1,774 · see citing works
Isolation and quantification of soluble Alzheimer's β-peptide from biological fluids
Seubert, P., Vigo-Pelfrey, C., Esch, F., Lee, M., Dovey, H., Davis, D., Sinha, S., Schiossmacher, M., Whaley, J., Swindlehurst, C., et al. (1992) · Nature · doi:10.1038/359325a0 · Cited by 1,731 · see citing works
Frequency of Stages of Alzheimer-Related Lesions in Different Age Categories
Braak, H., & Braak, E. (1997) · Neurobiology of Aging · doi:10.1016/s0197-4580(97)00056-0 · Cited by 1,656 · see citing works
Suzuki, N., Cheung, T. T., Cai, X.-D., Odaka, A., Otvos, L., Eckman, C., Golde, T. E., & Younkin, S. G. (1994) · Science · doi:10.1126/science.8191290 · Cited by 1,471 · see citing works
Production of the Alzheimer Amyloid β Protein by Normal Proteolytic Processing
Shoji, M., Golde, T. E., Ghiso, J., Cheung, T. T., Estus, S., Shaffer, L. M., Cai, X.-D., McKay, D. M., Tintner, R., Frangione, B., et al. (1992) · Science · doi:10.1126/science.1439760 · Cited by 1,447 · see citing works
Holcomb, L., Gordon, M. N., McGowan, E., Yu, X., Benkovic, S., Jantzen, P., Wright, K., Saad, I., Mueller, R., Morgan, D., et al. (1998) · Nature Medicine · doi:10.1038/nm0198-097 · Cited by 1,386 · see citing works
Alzheimer's Disease and Parkinson's Disease
Nussbaum, R. L., & Ellis, C. E. (2003) · New England Journal of Medicine · doi:10.1056/nejm2003ra020003 · Cited by 1,351 · see citing works
Goldgaber, D., Lerman, M. I., McBride, O. W., Saffiotti, U., & Gajdusek, D. C. (1987) · Science · doi:10.1126/science.3810169 · Cited by 1,333 · see citing works
Citron, M., Westaway, D., Xia, W., Carlson, G., Diehl, T., Levesque, G., Johnson-wood, K., Lee, M., Seubert, P., Davis, A., et al. (1997) · Nature Medicine · doi:10.1038/nm0197-67 · Cited by 1,271 · see citing works
Identification, biogenesis, and localization of precursors of Alzheimer's disease A4 amyloid protein
Weidemann, A., König, G., Bunke, D., Fischer, P. Q., Salbaum, J. M., Masters, C. L., & Beyreuther, K. T. (1989) · Cell · doi:10.1016/0092-8674(89)90177-3 · Cited by 1,233 · see citing works
Apolipoprotein E polymorphism and Alzheimer's disease
Poirier, J., Bertrand, P., Poirier, J., Kogan, S., Gauthier, S., Poirier, J., Gauthier, S., Davignon, J., Bouthillier, D., & Davignon, J. (1993) · The Lancet · doi:10.1016/0140-6736(93)91705-q · Cited by 1,108 · see citing works
Tanzi, R. E., McClatchey, A. I., Lamperti, E. D., Villa‐Komaroff, L., Gusella, J. F., & Neve, R. L. (1988) · Nature · doi:10.1038/331528a0 · Cited by 1,093 · see citing works
Novel precursor of Alzheimer's disease amyloid protein shows protease inhibitory activity
Kitaguchi, N., Takahashi, Y., Tokushima, Y., Shiojiri, S., & Ito, H. (1988) · Nature · doi:10.1038/331530a0 · Cited by 1,083 · see citing works
A new A4 amyloid mRNA contains a domain homologous to serine proteinase inhibitors
Ponte, P. A., Gonzalez‐DeWhitt, P. A., Schilling, J., Miller, J., Hsu, D. K., Greenberg, B., Davis, K. L., Wallace, W., Lieberburg, I. M., Fuller, F. H., et al. (1988) · Nature · doi:10.1038/331525a0 · Cited by 1,050 · see citing works
Evidence that production and release of amyloid beta-protein involves the endocytic pathway
Koo, E. H., & Squazzo, S. L. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)32449-3 · Cited by 989 · see citing works
Consensus Recommendations for the Postmortem Diagnosis of Alzheimer’s Disease
(1997) · Neurobiology of Aging · doi:10.1016/s0197-4580(97)00057-2 · Cited by 981 · see citing works
Skeletal and CNS Defects in Presenilin-1-Deficient Mice
Shen, J., Bronson, R. T., Chen, D., Xia, W., Selkoe, D. J., & Tonegawa, S. (1997) · Cell · doi:10.1016/s0092-8674(00)80244-5 · Cited by 947 · see citing works
Genetic Linkage Evidence for a Familial Alzheimer's Disease Locus on Chromosome 14
Schellenberg, G. D., Bird, T. D., Wijsman, E. M., Orr, H. T., Anderson, L., Nemens, E. J., White, J. A., Bonnycastle, L. L., Weber, J. L., Alonso, M. E., et al. (1992) · Science · doi:10.1126/science.1411576 · Cited by 945 · see citing works
Self-citationMahley, R. W., Weisgraber, K. H., & Huang, Y. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0600549103 · Cited by 912 · see citing works
Haass, C., Koo, E. H., Mellon, A., Hung, A. Y., & Selkoe, D. J. (1992) · Nature · doi:10.1038/357500a0 · Cited by 899 · see citing works
Evidence that β-Amyloid Protein in Alzheimer's Disease Is Not Derived by Normal Processing
Sisodia, S. S., Koo, E. H., Beyreuther, K. T., Unterbeck, A., & Price, D. L. (1990) · Science · doi:10.1126/science.1691865 · Cited by 894 · see citing works
Reconstitution of γ-secretase activity
Edbauer, D., Winkler, E., Regula, J. T., Pesold, B., Steiner, H., & Haass, C. (2003) · Nature Cell Biology · doi:10.1038/ncb960 · Cited by 882 · see citing works
The role of presenilin cofactors in the γ-secretase complex
Takasugi, N., Tomita, T., Hayashi, I., Tsuruoka, M., Niimura, M., Takahashi, Y., Thinakaran, G., & Iwatsubo, T. (2003) · Nature · doi:10.1038/nature01506 · Cited by 869 · see citing works
A Familial Alzheimer's Disease Locus on Chromosome 1
Levy‐Lahad, E., Wijsman, E. M., Nemens, E. J., Anderson, L., Goddard, K. A. B., Weber, J. L., Bird, T. D., & Schellenberg, G. D. (1995) · Science · doi:10.1126/science.7638621 · Cited by 812 · see citing works
Self-citationDementia and Alzheimer Disease Incidence: A Prospective Cohort Study
Kukull, W. A., Higdon, R., Bowen, J. D., McCormick, W. C., Teri, L., Schellenberg, G. D., van Belle, G., Jolley, L., & Larson, E. B. (2002) · Archives of Neurology · doi:10.1001/archneur.59.11.1737 · Cited by 806 · see citing works
Francis, R., McGrath, G., Zhang, J., Ruddy, D. A., Sym, M., Apfeld, J., Nicoll, M., Maxwell, M., Hai, B., Ellis, M. C., et al. (2002) · Developmental Cell · doi:10.1016/s1534-5807(02)00189-2 · Cited by 805 · see citing works
Devi, L., Prabhu, B. M., Galati, D. F., Avadhani, N. G., & Anandatheerthavarada, H. K. (2006) · The Journal of Neuroscience · doi:10.1523/jneurosci.1469-06.2006 · Cited by 792 · see citing works
BACE1 is the major β-secretase for generation of Aβ peptides by neurons
Cai, H., Wang, Y.-S., McCarthy, D., Wen, H., Borchelt, D., Price, D. L., & Wong, P. (2001) · Nature Neuroscience · doi:10.1038/85064 · Cited by 791 · see citing works
Campion, D., Dumanchin, C., Hannequin, D., Dubois, B., Belliard, S., Puel, M., Thomas-Anterion, C., Michon, A., Martin, C., Charbonnier, F., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302553 · Cited by 785 · see citing works
Raina, P., Santaguida, P., Ismaila, A., Patterson, C., Cowan, D., Levine, M., Booker, L., & Oremus, M. (2008) · Annals of Internal Medicine · doi:10.7326/0003-4819-148-5-200803040-00009 · Cited by 771 · see citing works
γ-Secretase is a membrane protein complex comprised of presenilin, nicastrin, aph-1, and pen-2
Kimberly, W. T., LaVoie, M. J., Ostaszewski, B. L., Ye, W., Wolfe, M. S., & Selkoe, D. J. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1037392100 · Cited by 763 · see citing works
Turner, P. R., O’Connor, K., Tate, W. P., & Abraham, W. C. (2003) · Progress in Neurobiology · doi:10.1016/s0301-0082(03)00089-3 · Cited by 751 · see citing works
Wood, J. G., Mirra, S. S., Pollock, N. J., & Binder, L. I. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.11.4040 · Cited by 749 · see citing works
Molecular pathways to neurodegeneration
Bossy-Wetzel, E., Schwarzenbacher, R., & Lipton, S. A. (2004) · Nature Medicine · doi:10.1038/nm1067 · Cited by 740 · see citing works
(1985) · PubMed · Cited by 706 · see citing works
Astrocytes synthesize apolipoprotein E and metabolize apolipoprotein E-containing lipoproteins
Pitas, R. E., Boyles, J. K., Lee, S. H., Foss, D., & Mahley, R. W. (1987) · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · doi:10.1016/0005-2760(87)90295-5 · Cited by 693 · see citing works
The Relationship between Aβ and Memory in the Tg2576 Mouse Model of Alzheimer's Disease
Westerman, M., Cooper-Blacketer, D., Mariash, A., Kotilinek, L., Kawarabayashi, T., Younkin, L., Carlson, G., Younkin, S., & Ashe, K. (2002) · Journal of Neuroscience · doi:10.1523/jneurosci.22-05-01858.2002 · Cited by 660 · see citing works
IRIZARRY, M. C., MCNAMARA, M., FEDORCHAK, K., HSIAO, K., & HYMAN, B. T. (1997) · Journal of Neuropathology and Experimental Neurology · doi:10.1097/00005072-199709000-00002 · Cited by 649 · see citing works
Demonstration of amyloid deposits and neurofibrillary changes in whole brain sections
Braak, H., & Braak, E. (1991) · Brain Pathology · doi:10.1111/j.1750-3639.1991.tb00661.x · Cited by 598 · see citing works
Lemere, C. A., Blusztajn, J. K., Yamaguchi, H., Wisniewski, T., Saido, T. C., & Selkoe, D. J. (1996) · Neurobiology of Disease · doi:10.1006/nbdi.1996.0003 · Cited by 584 · see citing works
Anandatheerthavarada, H. K., Biswas, G., Robin, M.-A., & Avadhani, N. G. (2003) · The Journal of Cell Biology · doi:10.1083/jcb.200207030 · Cited by 571 · see citing works
Coon, K. D., Myers, A. J., Craig, D. W., Webster, J. A., Pearson, J. V., Lince, D. H., Zismann, V. L., Beach, T. G., Leung, D., Bryden, L., et al. (2007) · The Journal of Clinical Psychiatry · doi:10.4088/jcp.v68n0419 · Cited by 569 · see citing works
Expression of apolipoprotein E during nerve degeneration and regeneration.
Ignatius, M. J., Gebicke‐Haerter, P. J., Skene, J. H. P., Schilling, J., Weisgraber, K. H., Mahley, R. W., & Shooter, E. M. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.4.1125 · Cited by 568 · see citing works
Protein Aggregation in the Brain: The Molecular Basis for Alzheimer’s and Parkinson’s Diseases
Irvine, G. B., El‐Agnaf, O. M. A., Shankar, G. M., & Walsh, D. M. (2008) · Molecular Medicine · doi:10.2119/2007-00100.irvine · Cited by 556 · see citing works
Kovacs, D. M., Fausett, H. J., Page, K. J., Kim, T., Moir, R. D., Merriam, D. E., Hollister, R. D., Hallmark, O. G., Mancini, R., Felsenstein, K. M., et al. (1996) · Nature Medicine · doi:10.1038/nm0296-224 · Cited by 551 · see citing works
Synapse Formation and Function Is Modulated by the Amyloid Precursor Protein
Priller, C., Bauer, T., Mitteregger, G., Krebs, B., Kretzschmar, H. A., & Herms, J. W. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.1450-06.2006 · Cited by 548 · see citing works
Utility of the Apolipoprotein E Genotype in the Diagnosis of Alzheimer's Disease
Mayeux, R., Saunders, A. M., Shea, S., Mirra, S., Evans, D., Roses, A. D., Hyman, B. T., Crain, B., Tang, M.-X., & Phelps, C. H. (1998) · New England Journal of Medicine · doi:10.1056/nejm199802193380804 · Cited by 547 · see citing works
E PIDEMIOLOGY OF N EURODEGENERATION
Mayeux, R. P. (2003) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.26.043002.094919 · Cited by 511 · see citing works
A Portrait of Alzheimer Secretases--New Features and Familiar Faces
Esler, W. P., & Wolfe, M. S. (2001) · Science · doi:10.1126/science.1064638 · Cited by 493 · see citing works
Apolipoprotein E ε4 allele is associated with deposition of amyloid β-protein following head injury
Nicoll, J. A. R., Roberts, G. W., & Graham, D. I. (1995) · Nature Medicine · doi:10.1038/nm0295-135 · Cited by 486 · see citing works
ApoE-4 and Age at Onset of Alzheimer's Disease: The NIMH Genetics Initiative
Blacker, D., Haines, J. L., Rodes, L., Terwedow, H., Go, R. C. P., Harrell, L. E., Perry, R. T., Bassett, S. S., Chase, G., Meyers, D., et al. (1997) · Neurology · doi:10.1212/wnl.48.1.139 · Cited by 479 · see citing works
Sastre, M., Steiner, H., Fuchs, K. P., Capell, A., Multhaup, G., Condron, M. M., Teplow, D. B., & Haass, C. (2001) · EMBO Reports · doi:10.1093/embo-reports/kve180 · Cited by 472 · see citing works
Mahley, R. W., Huang, Y., & Rall, S. C. (1999) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)32417-2 · Cited by 447 · see citing works
Golde, T. E., Estus, S., Usiak, M., Younkin, L. H., & Younkin, S. G. (1990) · Neuron · doi:10.1016/0896-6273(90)90100-t · Cited by 431 · see citing works
Role of hypoxia-inducible factor-1 in hypoxia-induced ischemic tolerance in neonatal rat brain
Bergeron, M., Gidday, J. M., Yu, A. Y., Semenza, G. L., Ferriero, D. M., & Sharp, F. R. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200009)48:3 · Cited by 427 · see citing works
Presenilin clinical mutations can affect γ‐secretase activity by different mechanisms
Bentahir, M., Nyabi, O., Verhamme, J., Tolia, A., Horré, K., Wiltfang, J., Esselmann, H., & Strooper, B. D. (2006) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2005.03578.x · Cited by 415 · see citing works
The apolipoprotein ε4 allele in patients with Alzheimer's disease
Mayeux, R. P., Stern, Y., Ottman, R., Tatemichi, T. K., Tang, M., Maestre, G. E., Ngai, C. I., Tycko, B., & Ginsberg, H. N. (1993) · Annals of Neurology · doi:10.1002/ana.410340527 · Cited by 414 · see citing works
Goutte, C., Tsunozaki, M., Hale, V. A., & Priess, J. R. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.022523499 · Cited by 404 · see citing works
Breitner, J. C. S., Wyse, B. W., Anthony, J. C., Welsh-Bohmer, K. A., Steffens, D. C., Norton, M. C., Tschanz, J. T., Plassman, B. L., Meyer, M. R., Skoog, I., et al. (1999) · Neurology · doi:10.1212/wnl.53.2.321 · Cited by 397 · see citing works
Risk of Dementia Among White and African American Relatives of Patients With Alzheimer Disease
Green, R. C. (2002) · JAMA · doi:10.1001/jama.287.3.329 · Cited by 391 · see citing works
Expression of the Alzheimer amyloid precursor gene transcripts in the human brain
Neve, R. L. (1988) · Neuron · doi:10.1016/0896-6273(88)90166-3 · Cited by 388 · see citing works
The presenilins and Alzheimer's disease
Hutton, M. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.10.1639 · Cited by 368 · see citing works
Buttini, M., Orth, M., Bellosta, S., Akeefe, H., Pitas, R. E., Wyss‐Coray, T., Mucke, L., & Mahley, R. W. (1999) · Journal of Neuroscience · doi:10.1523/jneurosci.19-12-04867.1999 · Cited by 361 · see citing works
Genetic aspects of Alzheimer disease.
Bird, T. D. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31816b64dc · Cited by 356 · see citing works
Self-citationAlzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
Sherrington, R., Froelich, S., Sorbi, S., Campion, D., Chi, H., Rogaeva, E., Lévesque, G., Rogaev, E., Lin, C.-P., Liang, Y., et al. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.7.985 · Cited by 335 · see citing works
Cholinesterase Inhibitors in Mild Cognitive Impairment: A Systematic Review of Randomised Trials
Raschetti, R., Albanese, E., Vanacore, N., & Maggini, M. (2007) · PLoS Medicine · doi:10.1371/journal.pmed.0040338 · Cited by 321 · see citing works
Early onset familial Alzheimer’s disease
Janssen, J. C., Beck, J. A., Campbell, T., Dickinson, A., Fox, N. C., Harvey, R. J., Houlden, H., Rossor, M. N., & Collinge, J. (2003) · Neurology · doi:10.1212/01.wnl.0000042088.22694.e3 · Cited by 302 · see citing works
The Number of Trait Loci in Late-Onset Alzheimer Disease
Daw, E. W., Payami, H., Nemens, E. J., Nochlin, D., Bird, T. D., Schellenberg, G. D., & Wijsman, E. M. (2000) · The American Journal of Human Genetics · doi:10.1086/302710 · Cited by 295 · see citing works
Self-citationMoehlmann, T., Winkler, E., Xia, X., Edbauer, D., Murrell, J. R., Capell, A., Kaether, C., Zheng, H., Ghetti, B. F., Haass, C., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.112686799 · Cited by 266 · see citing works
Apolipoprotein E: risk factor for Alzheimer disease.
Tsai, M. S., Tangalos, E. G., Petersen, R. C., Smith, G. E., Schaid, D. J., Kokmen, E., Ivnik, R. J., & Thibodeau, S. N. (1994) · PubMed Central · Cited by 265 · see citing works
Genomic organization of the human amyloid beta-protein precursor gene
Yoshikai, S.-I., Sasaki, H., Doh‐ura, K., Furuya, H., & Sakaki, Y. (1990) · Gene · doi:10.1016/0378-1119(90)90310-n · Cited by 259 · see citing works
Amyloid Protein Precursor Messenger RNAs: Differential Expression in Alzheimer's Disease
Palmert, M. R., Golde, T. E., Cohen, M. L., Kovacs, D. M., Tanzi, R. E., Gusella, J. F., Usiak, M., Younkin, L. H., & Younkin, S. G. (1988) · Science · doi:10.1126/science.2457949 · Cited by 256 · see citing works
APP Processing and Synaptic Plasticity in Presenilin-1 Conditional Knockout Mice
Yu, H., Saura, C. A., Choi, S., Sun, L. D., Yang, X., Handler, M., Kawarabayashi, T., Younkin, L. H., Fedeles, B. I., Wilson, M. A., et al. (2001) · Neuron · doi:10.1016/s0896-6273(01)00417-2 · Cited by 255 · see citing works
Nagy, Z. S., Esiri, M. M., Jobst, K. A., Johnston, C., Litchfield, S., Sim, E., & Smith, A. D. (1995) · Neuroscience · doi:10.1016/0306-4522(95)00331-c · Cited by 250 · see citing works
Payami, H., Zareparsi, S., Montee, K. R., Sexton, G. J., Kaye, J. A., Bird, T. D., Yu, C. E., Wijsman, E. M., Heston, L. L., Litt, M. J., et al. (1996) · PubMed Central · Cited by 248 · see citing works
Self-citationThe amyloid deposits in Alzheimer's disease: their nature and pathogenesis.
Glenner, G. G., Wong, C. W., Quaranta, V., & Eanes, E. D. (1984) · PubMed · Cited by 244 · see citing works
Michikawa, M., Fan, Q., Isobe, I., & Yanagisawa, K. (2000) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.2000.0741008.x · Cited by 244 · see citing works
The Development of Amyloid β Protein Deposits in the Aged Brain
Thal, D. R., Capetillo-Zarate, E., Del Tredici, K., & Braak, H. (2006) · Science of Aging Knowledge Environment · doi:10.1126/sageke.2006.6.re1 · Cited by 234 · see citing works
Down patients: Extracellular preamyloid deposits precede neuritic degeneration and senile plaques
Giaccone, G., Tagliavini, F., Linoli, G., Bouras, C., Frigerio, L., Frangione, B., & Bugiani, O. (1989) · Neuroscience Letters · doi:10.1016/0304-3940(89)90169-9 · Cited by 231 · see citing works
Meat‐Adaptive Genes and the Evolution of Slower Aging in Humans
Finch, C. E., & Stanford, C. B. (2004) · The Quarterly Review of Biology · doi:10.1086/381662 · Cited by 214 · see citing works
A Novel mRNA of the A4 Amyloid Precursor Gene Coding for a Possibly Secreted Protein
de Sauvage, F. J., & Octave, J. (1989) · Science · doi:10.1126/science.2569763 · Cited by 206 · see citing works
<i>APOE</i> alleles predict the rate of cognitive decline in Alzheimer disease: A nonlinear model
Martins, C. A. R., Oulhaj, A., de Jager, C. A., & Williams, J. H. (2005) · Neurology · doi:10.1212/01.wnl.0000188871.74093.12 · Cited by 205 · see citing works
Wolfe, M. S., Angeles, J. D. L., Miller, D. D., Xia, W., & Selkoe, D. J. (1999) · Biochemistry · doi:10.1021/bi991080q · Cited by 202 · see citing works
Alzheimer's disease: one disorder, too many genes?
Bertram, L. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh077 · Cited by 201 · see citing works
Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update: Table 1
Raux, G., Guyant‐Maréchal, L., Martin, C., Bou, J., Penet, C., Brice, A., Hannequin, D., Frébourg, T., & Campion, D. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.033456 · Cited by 198 · see citing works
Schroeter, E. H., Ilagan, M. X. G., Brunkan, A. L., Hecimovic, S. K., Li, Y., Xu, M., Lewis, H. D., Saxena, M. T., Strooper, B. D., Coonrod, A., et al. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1735338100 · Cited by 197 · see citing works
Purification of Apolipoprotein E Attenuates Isoform-specific Binding to β-Amyloid
LaDu, M. J., Pederson, T. M., Frail, D. E., Reardon, C. A., Getz, G. S., & Falduto, M. T. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.16.9039 · Cited by 189 · see citing works
Genetic and host factors for dementia in Down's syndrome
Schupf, N. (2002) · British Journal of Psychiatry · doi:10.1192/bjp.180.5.405 · Cited by 188 · see citing works
Tang, M. X., Maestre, G. E., Tsai, W., Liu, X., Feng, L., Chung, W.-Y., Chun, M. R., Schofield, P. R., Stern, Y., Tycko, B., et al. (1996) · PubMed Central · doi:10.7916/d80v9r96 · Cited by 184 · see citing works
Specific Regional Transcription of Apolipoprotein E in Human Brain Neurons
Xu, P., Gilbert, J. R., Qiu, H.-L., Ervin, J. F., Rothrock‐Christian, T., Hulette, C., & Schmechel, D. E. (1999) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)65305-9 · Cited by 177 · see citing works
Genetic dissection of Alzheimer disease, a heterogeneous disorder.
Schellenberg, G. D. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.19.8552 · Cited by 177 · see citing works
Molecular Genetics of Late‐Onset Alzheimer's Disease
Kamboh, M. I. (2004) · Annals of Human Genetics · doi:10.1046/j.1529-8817.2004.00110.x · Cited by 170 · see citing works
The cell biology of Alzheimer's disease: uncovering the secrets of secretases
Walter, J., Kaether, C., Steiner, H., & Haass, C. (2001) · Current Opinion in Neurobiology · doi:10.1016/s0959-4388(00)00253-1 · Cited by 160 · see citing works
Tanaka, S., Nakamura, S., Ueda, K., Kameyama, M., Shiojiri, S., Takahashi, Y., Kitaguchi, N., & Ito, H. (1988) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(88)80273-0 · Cited by 156 · see citing works
Complete analysis of the presenilin 1 gene in early onset Alzheimerʼs disease
Hutton, M., Busfield, F., Wragg, M. A., Crook, R., Pérez‐Tur, J., Clark, R. F., Prihar, G., Phillips, H., Wright, K., Baker, M. C., et al. (1996) · Neuroreport · doi:10.1097/00001756-199602290-00029 · Cited by 153 · see citing works
Molecular genetics of Alzheimer's disease
Cruts, M., & Broeckhoven, C. V. (1998) · Annals of Medicine · doi:10.3109/07853899809002605 · Cited by 148 · see citing works
Transgenic mouse models of Alzheimer's disease: phenotype and application.
(2003) · PubMed · doi:10.1097/01.fbp.0000088420.18414.ff · Cited by 147 · see citing works
Alzheimer's APP mangles mitochondria
Lin, M. T., & Beal, M. F. (2006) · Nature Medicine · doi:10.1038/nm1106-1241 · Cited by 143 · see citing works
Apolipoprotein E genotypes and Alzheimer's disease in a community study of elderly African Americans
Hendrie, H. C., Hall, K. S., Hui, S. L., Unverzagt, F. W., Yu, C., Lahiri, D. K., Sahota, A. S., Farlow, M. R., Musick, B. S., Brashear, A., et al. (1995) · Annals of Neurology · doi:10.1002/ana.410370123 · Cited by 141 · see citing works
Self-citationApoE immunoreactivity and microglial cells in Alzheimer’s disease brain
Uchihara, T., Duyckaerts, C., He, Y., Kobayashi, K., Seilhean, D., Amouyel, P., & Hauw, J.-J. (1995) · Neuroscience Letters · doi:10.1016/0304-3940(95)11763-m · Cited by 131 · see citing works
The current status of Alzheimer?s disease genetics: what do we tell the patients?
Bertram, L. (2004) · Pharmacological Research · doi:10.1016/j.phrs.2003.11.018 · Cited by 128 · see citing works
Rapp, A., Gmeiner, B. M. K., & Hüttinger, M. (2005) · Biochimie · doi:10.1016/j.biochi.2005.10.007 · Cited by 127 · see citing works
Farrer, L. A. (1997) · JAMA · doi:10.1001/jama.1997.03550160069041 · Cited by 124 · see citing works
The PreA4695precursor protein of Alzheimer's disease A4 amyloid is encoded by 16 exons
Lemaire, H.-G., Salbaum, J. M., Multhaup, G., Kang, J., Bayney, R. M., Unterbeck, A., Beyreuther, K. T., & Müller‐Hill, B. (1989) · Nucleic Acids Research · doi:10.1093/nar/17.2.517 · Cited by 121 · see citing works
Sato, N., Imaizumi, K., Manabe, T., Taniguchi, M., Hitomi, J., Katayama, T., Yoneda, T., Morihara, T., Yasuda, Y., Takagi, T., et al. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m006886200 · Cited by 120 · see citing works
Kawas, C. H. (2003) · New England Journal of Medicine · doi:10.1056/nejmcp022295 · Cited by 114 · see citing works
Brousseau, T., Legrain, S., Berr, C., Gourlet, V., Vidal, O., & Amouyel, P. (1994) · Neurology · doi:10.1212/wnl.44.2.342 · Cited by 113 · see citing works
Apolipoprotein E Expression by Neurons Surviving Excitotoxic Stress
Boschert, U., Merlo‐Pich, E., Higgins, G. A., Roses, A. D., & Catsicas, S. (1999) · Neurobiology of Disease · doi:10.1006/nbdi.1999.0251 · Cited by 110 · see citing works
Baulac, S., LaVoie, M. J., Kimberly, W. T., Strahle, J. M., Wolfe, M. S., Selkoe, D. J., & Xia, W. (2003) · Neurobiology of Disease · doi:10.1016/s0969-9961(03)00123-2 · Cited by 109 · see citing works
Farrer, L. A., Cupples, L. A., van Duijn, C. M., Kurz, A., Zimmer, R., Müller, U., Green, R. C., Clarke, V., Shoffner, J. M., Wallace, D. C., et al. (1995) · Annals of Neurology · doi:10.1002/ana.410380515 · Cited by 101 · see citing works
Alzheimer’s Disease and Cholesterol: The Fat Connection
Canevari, L., & Clark, J. B. (2006) · Neurochemical Research · doi:10.1007/s11064-006-9200-1 · Cited by 95 · see citing works
Theuns, J. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.3.325 · Cited by 92 · see citing works
Spatial learning in transgenic mice expressing human presenilin 1 (PS1) transgenes
Janus, C., D’Amelio, S., Amitay, O. A., Chishti, M. A., Strome, R., Fraser, P., Carlson, G. A., Roder, J., George‐Hyslop, P. S., & Westaway, D. A. (2000) · Neurobiology of Aging · doi:10.1016/s0197-4580(00)00107-x · Cited by 88 · see citing works
Patterns of Risk in First-Degree Relatives of Patients With Alzheimer's Disease
Silverman, J. M. (1994) · Archives of General Psychiatry · doi:10.1001/archpsyc.1994.03950070069012 · Cited by 86 · see citing works
Roses, A. D. (2006) · Journal of Alzheimer's Disease · doi:10.3233/jad-2006-9s340 · Cited by 86 · see citing works
Aβ−42 deposition precedes other changes in PS-1 Alzheimer's disease
Lippa, C. F., Nee, L., Mori, H., & George-Hyslop, P. (1998) · The Lancet · doi:10.1016/s0140-6736(05)79757-9 · Cited by 79 · see citing works
Sandbrink, R., Masters, C. L., & Beyreuther, K. T. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)36778-9 · Cited by 78 · see citing works
Brickell, K. L., Steinbart, E. J., Rumbaugh, M., Payami, H., Schellenberg, G. D., Van Deerlin, V., Yuan, W., & Bird, T. D. (2006) · Archives of Neurology · doi:10.1001/archneur.63.9.1307 · Cited by 77 · see citing works
Self-citationMembrane dynamics, cholesterol homeostasis, and Alzheimer's disease
Chauhan, N. B. (2003) · Journal of Lipid Research · doi:10.1194/jlr.r300010-jlr200 · Cited by 72 · see citing works
Horsburgh, K. J., McCulloch, J., Nilsen, M., Roses, A. D., & Nicoll, J. A. R. (2000) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2000.01339.x · Cited by 70 · see citing works
König, G., Salbaum, M., Wiestler, O. D., Lang, W., Schmitt, H. P., Masters, C. L., & Beyreuther, K. T. (1991) · Molecular Brain Research · doi:10.1016/0169-328x(91)90010-u · Cited by 69 · see citing works
Alzheimer's disease and other dementias: A review
Rogan, S., & Lippa, C. F. (2002) · American Journal of Alzheimer s Disease & Other Dementias® · doi:10.1177/153331750201700106 · Cited by 69 · see citing works
Confirmation of association between the e4 allele of apolipoprotein E and Alzheimer's disease.
Liddell, M. B., Williams, J. H., Bayer, A. J., Kaiser, F. E., & Owen, M. J. (1994) · Journal of Medical Genetics · doi:10.1136/jmg.31.3.197 · Cited by 66 · see citing works
JOHNSON, S., ROGERS, J., & Finch, C. E. (1989) · Neurobiology of Aging · doi:10.1016/0197-4580(89)90017-1 · Cited by 65 · see citing works
Amyloid β‐Peptide Effects on Synaptosomes from Apolipoprotein E‐Deficient Mice
Keller, J. N., Lauderback, C. M., Butterfield, D. A., Kindy, M. S., Yu, J., & Markesbery, W. R. (2000) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.2000.0741579.x · Cited by 63 · see citing works
Tandon, A., & Fraser, P. E. (2002) · Genome biology · doi:10.1186/gb-2002-3-11-reviews3014 · Cited by 59 · see citing works
Emerging prospects for the disease-modifying treatment of Alzheimer's disease
Walker, L. C., Ibegbu, C., Todd, C. W., Robinson, H. L., Jucker, M., LeVine, H., & Gandy, S. (2005) · Biochemical Pharmacology · doi:10.1016/j.bcp.2004.12.015 · Cited by 57 · see citing works
Altered apolipoprotein E secretion in cytokine treated human astrocyte cultures
Baskin, F., Smith, G. M., Fosmire, J. A., & Rosenberg, R. N. (1997) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(96)05335-x · Cited by 56 · see citing works
Familial Alzheimer Disease Among Caribbean Hispanics
Romas, S. N., Santana, V., Williamson, J., Ciappa, A., Lee, J. H., Rondon, H. Z., Estevez, P., Lantigua, R., Medrano, M. Z., Veras, M. A. T., et al. (2002) · Archives of Neurology · doi:10.1001/archneur.59.1.87 · Cited by 56 · see citing works
Huang, Y. (2006) · PubMed · Cited by 53 · see citing works
Strooper, B. D. (2000) · Nature · doi:10.1038/35015193 · Cited by 51 · see citing works
A novel species-specific RNA related to alternatively spliced amyloid precursor protein mRNAs
Jacobsen, J. S., Muenkel, H. A., Blume, A. J., & Vitek, M. P. (1991) · Neurobiology of Aging · doi:10.1016/0197-4580(91)90089-3 · Cited by 50 · see citing works
Diagnostic challenges in dementia
Kaye, J. A. (1998) · Neurology · doi:10.1212/wnl.51.1_suppl_1.s45 · Cited by 48 · see citing works
Heckmann, J. M. (2003) · Brain · doi:10.1093/brain/awh009 · Cited by 48 · see citing works
Structure and alternative splicing of the Presenilin-2 gene
Prihar, G., Fuldner, R., Pérez‐Tur, J., Lincoln, S., Duff, K., Crook, R., Hardy, J., Philips, C. A., Venter, C. J., Talbot, C. J., et al. (1996) · Neuroreport · doi:10.1097/00001756-199607080-00031 · Cited by 47 · see citing works
Apolipoprotein E E4 Allele and Risk of Dementia
Roses, A. D. (1995) · JAMA · doi:10.1001/jama.1995.03520290026015 · Cited by 45 · see citing works
Recent Advances in the Genetics of Alzheimer's Disease
Levy‐Lahad, E., Tsuang, D. W., & Bird, T. D. (1998) · Journal of Geriatric Psychiatry and Neurology · doi:10.1177/089198879801100202 · Cited by 45 · see citing works
Self-citationLiu, Y., Laakso, M. P., Karonen, J. O., et al. (2002) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1097/01.wcb.0000033200.58646.b3 · Cited by 44 · see citing works
Stratman, N. C., Castle, C. K., Taylor, B. M., Epps, D. E. V., Melchior, G. W., & Carter, D. B. (2005) · Chemistry and Physics of Lipids · doi:10.1016/j.chemphyslip.2005.06.005 · Cited by 43 · see citing works
Tsuang, D., Larson, E. B., Bowen, J., McCormick, W., Teri, L., Nochlin, D., Leverenz, J. B., Peskind, E. R., Lim, A., Raskind, M. A., et al. (1999) · Archives of Neurology · doi:10.1001/archneur.56.12.1489 · Cited by 42 · see citing works
Self-citationRudzinski, L. A., Fletcher, R. M., Dickson, D. W., Crook, R., Hutton, M. L., Adamson, J. L., & Graff‐Radford, N. R. (2008) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0b013e3181732399 · Cited by 41 · see citing works
The Genetics of Alzheimer’s Disease
Chai, C. K. (2007) · American Journal of Alzheimer s Disease & Other Dementias® · doi:10.1177/1533317506295655 · Cited by 41 · see citing works
Is ϵ4 the ancestral human apoE allele?
Mahley, R. W., & Rall, S. C. (1999) · Neurobiology of Aging · doi:10.1016/s0197-4580(99)00081-0 · Cited by 40 · see citing works
Jayadev, S., Steinbart, E. J., Chi, Y.-Y., Kukull, W. A., Schellenberg, G. D., & Bird, T. D. (2008) · Archives of Neurology · doi:10.1001/archneurol.2007.61 · Cited by 40 · see citing works
Self-citationImmunocytochemical profile of neurofibrillary tangles in Down's syndrome patients of different ages
Mann, D., Prinja, D., Davies, C. A., et al. (1989) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(89)90140-8 · Cited by 34 · see citing works
Genes involved in Alzheimer's disease, a survey of possible candidates
Serretti, A., Artioli, P., Quartesan, R., & Ronchi, D. D. (2005) · Journal of Alzheimer s Disease · doi:10.3233/jad-2005-7410 · Cited by 32 · see citing works
Huang, X. (2003) · Experimental Neurology · doi:10.1016/s0014-4886(03)00242-5 · Cited by 31 · see citing works
Anwar, R., Moynihan, T. P., Ardley, H., Brindle, N., Coletta, P. L., Cairns, N., Markham, A. F., & Robinson, P. A. (1996) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.1996.66041774.x · Cited by 30 · see citing works
Familial Alzheimer's disease: second gene locus located.
MULLAN, M. J. (1992) · BMJ · doi:10.1136/bmj.305.6862.1108 · Cited by 29 · see citing works
The genetic causes of neurodegenerative diseases
Hardy, J. (2001) · Journal of Alzheimer s Disease · doi:10.3233/jad-2001-3115 · Cited by 25 · see citing works
Apolipoprotein E‐ε4 allele doses in late‐onset Alzheimer's disease
Lucotte, G., Turpin, J., & Landais, P. (1994) · Annals of Neurology · doi:10.1002/ana.410360429 · Cited by 25 · see citing works
A novel presenilin 2 mutation (V393M) in early‐onset dementia with profound language impairment
Lindquist, S. G., Hasholt, L., Bahl, J. M. C., Heegaard, N., Andersen, B., Nørremølle, A., Stokholm, J., Schwartz, M., Batbayli, M., Laursen, H. B., et al. (2008) · European Journal of Neurology · doi:10.1111/j.1468-1331.2008.02256.x · Cited by 25 · see citing works
Genetic Mouse Models of Alzheimer′s Disease
Mineur, Y. S., McLoughlin, D. M., Crusio, W. E., & Sluyter, F. (2005) · Neural Plasticity · doi:10.1155/np.2005.299 · Cited by 21 · see citing works
van der Cammen, T. J. M., Croes, E. A., Dermaut, B., de Jager, M., Cruts, M., Broeckhoven, C. V., & van Duijn, C. M. (2004) · Journal of the American Geriatrics Society · doi:10.1111/j.1532-5415.2004.52573.x · Cited by 20 · see citing works
Grünberg, J., Walter, J., Eckman, C., et al. (1998) · Neuroreport · doi:10.1097/00001756-199810050-00027 · Cited by 17 · see citing works
Kosik, K. S., Bakalis, S., Selkoe, D. J., Pierce, M., & Duffy, L. K. (1986) · Journal of Neuroscience Research · doi:10.1002/jnr.490150411 · Cited by 13 · see citing works
Once Shunned, Test for Alzheimer's Risk Headed to Market
Couzin, J. (2008) · Science · doi:10.1126/science.319.5866.1022 · Cited by 12 · see citing works
Aoki, K., Uchihara, T., Nakamura, A., Komori, T., Arai, N., & Mizutani, T. (2003) · Acta Neuropathologica · doi:10.1007/s00401-003-0740-z · Cited by 10 · see citing works
Solano (2000) · doi:10.1002/1531-8249(200002)47:2 · Cited by 3 · see citing works
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Alzheimer's Association (2016) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2016.03.001 · Cited by 5,069 · see citing works
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Hou, Y., Dan, X., Babbar, M., Wei, Y., Hasselbalch, S. G., Croteau, D. L., & Bohr, V. A. (2019) · Nature Reviews Neurology · doi:10.1038/s41582-019-0244-7 · Cited by 3,310 · see citing works
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Breijyeh, Z., & Karaman, R. (2020) · Molecules · doi:10.3390/molecules25245789 · Cited by 2,789 · see citing works
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Zhang, Y., Chen, H., Li, R., Sterling, K., & Song, W. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01484-7 · Cited by 988 · see citing works
Young, A. L., Marinescu, R. V., Oxtoby, N. P., Bocchetta, M., Yong, K., Firth, N. C., Cash, D. M., Thomas, D. L., Dick, K. M., Cardoso, J., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-05892-0 · Cited by 596 · see citing works
Alzheimer's Disease: Treatment Strategies and Their Limitations.
Passeri, E., Elkhoury, K., Morsink, M., Broersen, K., Linder, M., Tamayol, A., Malaplate, C., Yen, F. T., & Arab-Tehrany, E. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232213954 · Cited by 592 · see citing works
Neurocognitive Impairment in Obstructive Sleep Apnea
Lal, C., Strange, C., & Bachman, D. (2012) · Chest · doi:10.1378/chest.11-2214 · Cited by 406 · see citing works
Goldman, J. S., Hahn, S. E., Catania, J. W., Larusse-Eckert, S., Butson, M. B., Rumbaugh, M., Strecker, M. N., Roberts, J. S., Burke, W., Mayeux, R., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e31821d69b8 · Cited by 393 · see citing works
Self-citationProteolytic Degradation of Amyloid -Protein
Saido, T., & Leissring, M. A. (2012) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a006379 · Cited by 368 · see citing works
Acetylcholinesterase inhibitors as Alzheimer therapy: from nerve toxins to neuroprotection
Singh, M., Kaur, M., Kukreja, H., Chugh, R., Silakari, O., & Singh, D. (2013) · European Journal of Medicinal Chemistry · doi:10.1016/j.ejmech.2013.09.050 · Cited by 364 · see citing works
Genes associated with Alzheimer&#39;s disease: an overview and current status
Giri, M., Lü, Y., & Zhang, M. (2016) · Clinical Interventions in Aging · doi:10.2147/cia.s105769 · Cited by 311 · see citing works
Jeremic, D., Jiménez-Díaz, L., & Navarro-López, J. D. (2021) · Ageing Research Reviews · doi:10.1016/j.arr.2021.101496 · Cited by 306 · see citing works
Oxidative stress and β-amyloid protein in Alzheimer’s disease
Cai, Z., Zhao, B., & Ratka, A. (2011) · NeuroMolecular Medicine · doi:10.1007/s12017-011-8155-9 · Cited by 279 · see citing works
Sexually divergent induction of microglial-associated neuroinflammation with hippocampal aging
Mangold, C. A., Wronowski, B., Du, M., Masser, D. R., Hadad, N., Bixler, G. V., Brucklacher, R. M., Ford, M. M., Sonntag, W. E., & Freeman, W. M. (2017) · Journal of Neuroinflammation · doi:10.1186/s12974-017-0920-8 · Cited by 203 · see citing works
Uddin, M. S., Kabir, M. T., Al Mamun, A., Abdel-Daim, M. M., Barreto, G. E., & Ashraf, G. M. (2019) · Molecular Neurobiology · doi:10.1007/s12035-018-1237-z · Cited by 212 · see citing works
Bourgade, K., Garneau, H., Giroux, G., Le Page, A. Y., Bocti, C., Dupuis, G., Frost, E. H., & Fülöp, T. (2015) · Biogerontology · doi:10.1007/s10522-014-9538-8 · Cited by 208 · see citing works
PU.1 regulates Alzheimer’s disease-associated genes in primary human microglia
Rustenhoven, J., Smith, A. M., Smyth, L. C., Jansson, D., Scotter, E. L., Swanson, M. E. V., Aalderink, M., Coppieters, N., Narayan, P., Handley, R., et al. (2018) · Molecular Neurodegeneration · doi:10.1186/s13024-018-0277-1 · Cited by 155 · see citing works
Nonhuman Primate Models of Alzheimer-Like Cerebral Proteopathy
Heuer, E., F. Rosen, R., Cintron, A., & C. Walker, L. (2012) · Current Pharmaceutical Design · doi:10.2174/138161212799315885 · Cited by 169 · see citing works
Molecular diagnostics of neurodegenerative disorders
Agrawal, M., & Biswas, A. (2015) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2015.00054 · Cited by 164 · see citing works
Carlesimo, G. A., Piras, F., Orfei, M. D., Iorio, M., Caltagirone, C., & Spalletta, G. (2015) · Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring · doi:10.1016/j.dadm.2014.12.001 · Cited by 159 · see citing works
Endo‐lysosomal and autophagic dysfunction: a driving factor in Alzheimer's disease?
Whyte, L. S., Lau, A. A., Hemsley, K. M., Hopwood, J. J., & Sargeant, T. J. (2017) · Journal of Neurochemistry · doi:10.1111/jnc.13935 · Cited by 150 · see citing works
Mechanisms of protein toxicity in neurodegenerative diseases
Chung, C. G., Lee, H., & Lee, S. B. (2018) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-018-2854-4 · Cited by 142 · see citing works
Complement receptor 1 (CR1) and Alzheimer's disease
Crehan, H., Holton, P., Wray, S., Pocock, J., Guerreiro, R., & Hardy, J. (2012) · Immunobiology · doi:10.1016/j.imbio.2011.07.017 · Cited by 129 · see citing works
Neurotheranostics as Personalized Medicines
Kevadiya, B. D., Ottemann, B. M., Thomas, M. B., Mukadam, I., Nigam, S., McMillan, J., Gorantla, S., Bronich, T. K., Edagwa, B., & Gendelman, H. E. (2019) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2018.10.011 · Cited by 124 · see citing works
Genetic architecture of Alzheimer's disease
Neuner, S. M., TCW, J., & Goate, A. M. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104976 · Cited by 126 · see citing works
“The first disease-causative mutations in these genes were identified in 1995 (Rogaev et al., 1995; Sherrington et al., 1995), although it wasn't until 2000 that it was discovered these proteins are critical subunits of the γ-secretase complex responsible for processing of APP (Kopan and Goate, 2000; Esler et al., 2000…”
BackgroundInfluentialRedox proteomics and amyloid β-peptide: Insights into Alzheimer disease
Butterfield, D. A., & Boyd‐Kimball, D. (2019) · Journal of Neurochemistry · doi:10.1111/jnc.14589 · Cited by 105 · see citing works
Neurotrophin receptor agonists and antagonists as therapeutic agents: An evolving paradigm
Josephy-Hernandez, S., Jmaeff, S., Pirvulescu, I., Aboulkassim, T., & Saragovi, H. U. (2017) · Neurobiology of Disease · doi:10.1016/j.nbd.2016.08.004 · Cited by 54 · see citing works
Beck, T. N., Nicolas, E., Kopp, M. C., & Golemis, E. A. (2014) · Oncoscience · doi:10.18632/oncoscience.64 · Cited by 50 · see citing works
Nutrients for neurocognition in health and disease: Measures, methodologies and mechanisms
Scholey, A. (2018) · Proceedings of The Nutrition Society · doi:10.1017/s0029665117004025 · Cited by 49 · see citing works
Paranjpe, M. D., Belonwu, S., Wang, J. K., Oskotsky, T., Gupta, A., Taubes, A., Zalocusky, K. A., Paranjpe, I., Glicksberg, B. S., Huang, Y., et al. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.735611 · Cited by 49 · see citing works
Polis, B., & Samson, A. O. (2024) · Journal of Alzheimer's Disease · doi:10.3233/jad-240058 · Cited by 43 · see citing works
Amyloid β induces interneuron-specific changes in the hippocampus of APPNL-F mice
Sos, K. E., Mayer, M. I., Takács, V. T., Major, A., Bardóczi, Z., Beres, B. M., Szeles, T., Saito, T., Saido, T. C., Mody, I., et al. (2020) · PLOS ONE · doi:10.1371/journal.pone.0233700 · Cited by 37 · see citing works
The Multifaceted Role of Neuroprotective Plants in Alzheimer’s Disease Treatment
Zieneldien, T., Kim, J., & Cao, C. (2022) · Geriatrics · doi:10.3390/geriatrics7020024 · Cited by 29 · see citing works
El Massry, M., Alaeddine, L. M., Ali, L., Saad, C., & Eid, A. A. (2021) · Current Medicinal Chemistry · doi:10.2174/0929867327666200908114902 · Cited by 27 · see citing works
Using machine intelligence to uncover Alzheimer’s disease progression heterogeneity
Qorri, B., Tsay, M., Agrawal, A., Au, R., & Gracie, J. (2020) · Exploration of Medicine · doi:10.37349/emed.2020.00026 · Cited by 13 · see citing works
The mTOR pathway: a common link between Alzheimer's disease and Down Syndrome
Wohlfert, A. J., Phares, J., & Granholm, A.-C. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13206183 · Cited by 6 · see citing works
- Authors
- Bekris, L. M., Yu, C.-E., Bird, T. D., & Tsuang, D. W.
- Affiliations
- University of Washington (US)
- VA Puget Sound Health Care System (US)
- Corresponding author
- Tsuang, Debby W.
- Venue
- Journal of Geriatric Psychiatry and Neurology
- Publisher
- SAGE Publications
- Published
- 2010-11-02
- Volume
- 23
- Issue
- 4
- Pages
- 213-227
- ISSN
- 0891-9887 (ISSN-L)
- 1552-5708
- PMC
- PMC3044597
- OpenAlex
- W2407468727
- Cited by
- 1,029
- References
- 176
- Citations by year
- 2026: 33 · 2025: 67 · 2024: 92 · 2023: 99 · 2022: 102 · 2021: 100 · 2020: 89 · 2019: 80 · 2018: 59 · 2017: 42 · 2016: 48 · 2015: 41 · 2014: 40 · 2013: 49 · 2012: 39
- FWCI
- 4.27
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Geriatric Psychiatry and Neurology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute on Aging (AG-005136, T32AG000258, R00AG034214, K99AG034214, P50AG005136, U19AG010483)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Keywords
- Alzheimer's disease, familial Alzheimer's disease, APP gene, presenilin 1, presenilin 2, APOE ε4, genetic risk factors, neurodegeneration
- MeSH terms
- Aged, Aged, 80 and over, Aging, Alleles, Alzheimer Disease, Animals, Apolipoproteins E, Disease Models, Animal, Genetic Counseling, Genetic Testing, Genotype, Humans, Risk Factors, Prevalence, Amyloid beta-Protein Precursor, Genetic Predisposition to Disease, Presenilin-1, Presenilin-2
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