Genetic risk factors in Alzheimer's disease

Journal of Clinical Pathology - Molecular Pathology

Volumn 51, Issue 6, 1998, Pages 293-304

  Tilley, L ^a   Morgan, K ^a   Kalsheker, N ^a  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

Alzheimer's disease; Genetic risk factors; Susceptibility genes

Indexed keywords

ADVANCED GLYCATION END PRODUCT; ALPHA 1 ANTICHYMOTRYPSIN; ALPHA 2 MACROGLOBULIN; AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E; CHOLINESTERASE; LOW DENSITY LIPOPROTEIN RECEPTOR; MITOCHONDRIAL DNA; PRESENILIN 1; PRESENILIN 2; TAU PROTEIN; VERY LOW DENSITY LIPOPROTEIN;

ACUTE PHASE RESPONSE; ALZHEIMER DISEASE; APOPTOSIS; AUTOSOMAL DOMINANT DISORDER; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC RISK; HUMAN; NEUROFIBRILLARY TANGLE; NEUROPATHOLOGY; OXIDATIVE STRESS; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; REVIEW; SENILE PLAQUE;

EID: 0032424607     PISSN: 13668714     EISSN: None     Source Type: Journal    
DOI: 10.1136/mp.51.6.293     Document Type: Review

References (178)

1. Alzheimer A. Uber Eine Eigenartige Erkrankung der Hirnrinde. Allgemeine Zeitschrift fur Psychiatrie 1907;64:146-8.
2. Rocca WA, Hofman A, Brayne C, et al. Frequency and distribution of Alzheimer's-disease in Europe - a collaborative study of 1980-1990 prevalence findings. Ann Neurol 1991; 30:381-90.
3. Walsh JS, Welch HG, Larson EB. Survival of outpatients with Alzheimer-type dementia. Ann Intern Med 1990;113: 429-34.
4. Goedert M. Tau-protein and the neurofibrillary pathology of Alzheimer's-disease. Trends Neurosci 1993;16:460-5.
5. 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;120:885-90.
6. Jarrett JT, Berger EP, Lansbury PT. The carboxy terminus of the beta-amyloid protein is critical for the seeding of amyloid formation - implications for the pathogenesis of Alzheimer's-disease. Biochemistry 1993;32:4693-7.
7. Kang J, Lemaire HG, Unterbeck A, et al. The precursor of Alzheimer's-disease amyloid-A4 protein resembles a cell-surface receptor. Nature 1987;325:733-6.
8. Tanzi RE, Gusella JF, Watkins PC, et al. Amyloid beta-protein gene - cDNA, messenger-RNA distribution, and genetic-linkage near the Alzheimer locus. Science 1987; 235:880-4.
9. Abraham CR, Selkoe DJ, Potter H. Immunochemical identification of the serine protease inhibitor alpha-1-antichymotrypsin in the brain amyloid deposits of Alzheimer's-disease. Cell 1988;52:487-501.
10. Rozemuller JM, Abbink JJ, Kamp AM, et al. Distribution pattern and functional-state of alpha-1-antichymotrypsin in plaques and vascular amyloid in Alzheimer's-disease - an immunohistochemical study with monoclonal-antibodies against native and inactivated alpha-1-antichymotrypsin. Acta Neuropathol 1991;82:200-7.
11. Shoji M, Hirai S, Yamaguchi H, et al. Alpha-1-antichymotrypsin is present in diffuse senile plaques a comparative-study of beta-protein and alpha-1-antichymotrypsin immunostaining in the Alzheimer brain. Am J Pathol 1991;138:247-57.
12. Namba Y, Tomonaga M, Kawasaki H, et al. Apolipoprotein-E immunoreactivity in cerebral amyloid deposits and neurofibrillary tangles in Alzheimer's-disease and kuru plaque amyloid in Creutzfeldt-Jakob disease. Brain Res 1991;541:163-6.
13. Lee VMY, Balin BJ, Otvos L, et al. A68 - a major subunit of paired helical filaments and derivatized forms of normal-tau. Science 1991;251:675-8.
14. Morishima-Kawashima M, Hasegawa M, Takio K, et al. Ubiquitin is conjugated with amino-terminally processed tau in paired helical filaments. Neuron 1993;10:1151-60.
15. Raiha I, Kaprio J, Koskenvuo M, et al. Alzheimer's-disease in Finnish twins. Lancet 1996;347:573-8.
16. Nee LE, Eldridge R, Sunderland T, et al. Dementia of the Alzheimer type - clinical and family study of 22 twin pairs. Neurology 1987;37:359-63.
17. VanDuijn CM, Stijnen T, Hofman A. Risk-factors for Alzheimers-disease - overview of the Eurodem collaborative reanalysis of case-control studies. Int J Epidemiol 1991; 20:S4-12.
18. Goate A, Chartierharlin MC, Mullan M, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's-disease. Nature 1991;349: 704-6.
19. Chartier-Harlin M-C, Crawford F, Houlden H, et al. Early-onset Alzheimer's disease caused by mutations at codon 717 of the B-amyloid precursor protein gene. Nature 1991; 353:844-6.
20. Mullan M, Crawford F, Axelman K, et al. A pathogenic mutation for probable Alzheimer's-disease in the APP gene at the N-terminus of beta-amyloid. Nat Genet 1992;1:345-7.
21. Murrell J, Farlow M, Ghetti B, et al. A mutation in the amyloid precursor protein associated with hereditary Alzheimer's-disease. Science 1991;254:97-9.
22. Hendriks L, Vanduijn CM, Cras P, et al. Presenile-dementia and cerebral-hemorrhage linked to a mutation at codon-692 of the beta-amyloid precursor protein gene. Nat Genet 1992;1:218-21.
23. Levy E, Carman MD, Fernandezmadrid IJ, et al. Mutation of the Alzheimer's-disease amyloid gene in hereditary cerebral-hemorrhage, Dutch type. Science 1990;248:1124-6.
24. Goate AM. Molecular genetics of Alzheimer's disease. Geriatrics 1997;52:S9-17.
25. Van Broeckhoven C, Backhovens H, Cruts M, et al. Mapping of a gene predisposing to early-onset Alzheimer's-disease to chromosome 14q24.3. Nat Genet 1992;2:335-9.
26. Schellenberg GD, Bird TD, Wijsman EM, et al. Genetic-linkage evidence for a familial Alzheimer's-disease locus on chromosome-14. Science 1992;258:668-71.
27. St George Hyslop P, Haines J, Rogaev E, et al. Genetic-evidence for a novel familial Alzheimer's-disease locus on chromosome-14. Nat Genet 1992;2:330-4.
28. Campion D, Brice A, Dumanchin C, et al. A novel presenilin-1 mutation resulting in familial Alzheimer's-disease with an onset age of 29 years. Neuroreport 1996;7:1582-4.
29. Perez-Tur J, Froelich S, Prihar G, et al. A mutation in Alzheimer's-disease destroying a splice acceptor site in the presenilin-1 gene. Neuroreport 1995;7:297-301.
30. Van Broeckhoven C. Presenilins and Alzheimer-disease. Nat Genet 1995;11:230-2.
31. Levitan D, Greenwald I. Facilitation of lin-12-mediated signaling by Sel-12, a Caenorhabditis-elegans S182 Alzheimer's-disease gene. Nature 1995;377:351-4.
32. Wong PC, Zheng H, Chen H, et al. Presenilin 1 is required for Notch1 DII1 expression in the paraxial mesoderm. Nature 1997;387:288-92.
33. Shen J, Bronson RT, Chen DF, et al. Skeletal and CNS defects in presenilin-1-deficient mice. Cell 1997;89:629-39.
34. Levy-Lahad E, Wijsman EM, Nemens E, et al. A familial Alzheimer's-disease locus on chromosome-1. Science 1995; 269:970-3.
35. Levy-Lahad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome-1 familial Alzheimer's-disease locus. Science 1995;269:973-7.
36. Duff K, Eckman C, Zehr C, et al. Increased amyloid-beta-42(43) in brains of mice expressing mutant presenilin-1. Nature 1996;383:710-3.
37. 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 presenilin-2 and APP mutations linked to familial Alzheimer's-disease. Nat Med 1996;2:864-70.
38. Citron M, Westaway D, Xia WM, et al. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice. Nat Med 1997;3:67-72.
39. Lee MK, Borchelt DR, Kim G, et al. Hyperaccumulation of FAD-linked presenilin 1 variants in vivo. Nat Med 1997;3: 756-60.
40. Schellenberg GD, Deeb SS, Boehnke M, et al. Association of an apolipoprotein-CII allele with familial dementia of the Alzheimer type. J Neurogenet 1987;4:97-108.
41. Schellenberg GD, Boehnke M, Wijsman EM, et al. Genetic association and linkage analysis of the apolipoprotein-CII locus and familial Alzheimer's-disease. Ann Neurol 1992; 31:223-7.
42. Pericak-Vance MA, Bebout JL, Gaskell PC, et al. Linkage studies in familial Alzheimer-disease - evidence for chromosome-19 linkage. Am J Hum Genet 1991;48:1034-50.
43. 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; 261:921-3.
44. Roses AD, Saunders AM, Strittmatter WJ, et al. Association of apolipoprotein-E allele-E4 with late-onset familial and sporadic Alzheimer's-disease. Nerology 1993;43:A192.
45. Saunders AM, Strittmatter WJ, Schmechel D, et al. Association of apolipoprotein-E allele epsilon-4 with late-onset familial and sporadic Alzheimer's-disease. Neurology 1993; 43:1467-72.
46. Chartier-Harlin MC, Partitt M, Legram S, et al. Apolipoprotein-E, epsilon-4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's-disease - analysis of the 19q1 3.2 chromosomal region. Hum Mol Genet 1994;3:569-74.
47. Okuizumi K, Onodera O, Tanaka H, et al. ApoE-epsilon-4 and early-onset Alzheimers. Nat Genet 1994;7:10-1.
48. Poirier J, Davignon J, Bouthillier D, et al. Apolipoprotein-E polymorphism and Alzheimer's-disease. Lancet 1993;342: 697-9.
49. Tsai MS, Tangalos EG, Petersen RC, et al. Apolipoprotein-E risk factor for Alzheimer-disease. Am J Hum Genet 1994;54:643-9.
50. Payami H, Montee KR, Kaye JA, et al. Alzheimer's-disease, apolipoprotein E4, and gender. JAMA 1994;271:1316-17.
51. Payami H, Zareparsi S, Montee KR, et al. Gender difference in apolipoprotein E-associated risk for familial Alzheimer-disease - a possible clue to the higher incidence of Alzheimer-disease in women. Am J Hum Genet 1996;58: 803-11.
52. Corder EH, Saunders AM, Strittmatter WJ, et al. The apolipoprotein-E E4 allele and sex-specific risk of Alzheimer's-disease. JAMA 1995;273:373-4.
53. Bickeboller H, Campion D, Brice A, et al. Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex. Am J Hum Genet 1997;60:439-46.
54. Corder EH, Saunders AM, Risch NJ, et al. Protective effect of apolipoprotein-E type-2 allele for late-onset Alzheimer-disease. Nat Genet 1994;7:180-4.
55. Maestre G, Ottman R, Stern Y, et al. Apolipoprotein-E and Alzheimers-disease - ethnic variation in genotypic risks. Ann Neurol 1995;37:254-9.
56. Sorbi S, Nacmias B, Forleo P, et al. ApoE allele frequencies in Italian sporadic and familial Alzheimer's-disease. Neurosci Lett 1994;177:100-2.
57. VanDuijn CM, Deknijff P, Wehnert A, et al. The apolipoprotein-E epsilon-2 allele is associated with an increased risk of early-onset Alzheimer's-disease and a reduced survival. Ann Neurol 1995;37:605-10.
58. Lambert JC, Pasquier F, Cottel D, et al. A new polymorphism in the APOE promoter associated with risk of developing Alzheimer's disease. Hum Mol Genet 1998;7: 533-40.
59. Bullido MJ, Artiga MJ, Recuero M, et al. A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia. Nat Genet 1998;18:69-71.
60. Song YQ, Rogaeva E, Premkumar S, et al. Absence of association between Alzheimer disease and the 491 regulatory region polymorphism of APOE. Neurosci Lett 1998;250:189-92.
61. Itzhaki RF, Lin WR, Shang DH, et al. Herpes simplex virus type 1 in brain and risk of Alzheimer's disease. Lancet 1997;349:241-4.
62. Sakai J, Hoshino A, Takahashi S, et al. Structure, chromosome location, and expression of the human very-low-density lipoprotein receptor gene. J Biol Chem 1994;269:2173-82.
63. Takahashi S, Kawarabayasi Y, Nakai T, et al. Rabbit very low-density-lipoprotein receptor - a low-density-lipoprotein receptor-like protein with distinct ligand specificity. Proc Natl Acad Sci USA 1992;89:9252-6.
64. Okuizumi K, Onodera O, Namba Y, et al. Genetic association of the very-low-density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's-disease. Nat Genet 1995;11:207-9.
65. Chung H, Roberts CT, Greenberg S, et al. Lack of association of trinucleotide repeat polymorphisms in the very-low-density lipoprotein receptor gene with Alzheimer's-disease. Ann Neurol 1996;39:800-3.
66. Okuizumi K, Onodera O, Seki K, et al. Lack of association of very-low-density lipoprotein receptor gene polymorphism with Caucasian Alzheimer's-disease. Ann Neurol 1996;40: 251-4.
67. Pritchard ML, Saunders AM, Gaskell PC, et al. No association between very-low-density lipoprotein receptor (VLDL-R) and Alzheimer-disease in American Claucasians. Nerosci Lett 1996;209:105-8.
68. Lendon CL, Talbot CJ, Craddock NJ, et al. Genetic association studies between dementia of the Alzheimer's type and three receptors for apolipoprotein E in a Caucasian population. Neurosci Lett 1997;222:187-90.
69. Fallin D, Gauntlett AC, Scibelli P, et al. No association between the very low density lipoprotein receptor gene and late-onset Alzheimer's disease nor interaction with the apolipoprotein E gene in population-based and clinic samples. Genet Epidemiol 1997;14:299-305.
70. Jokinen E, Sakai J, Yamamoto T, et al. CGG triple repeat polymorphism in VLDL receptor (VLDL-R) gene. Hum Mol Genet 1994;3:521.
71. Arinami T, Takekoshi K, Yanagi H, et al. The 5-repeat allele in the very-low-density lipoprotein receptor gene polymorphism is not increased in sporadic Alzheimer's-disease in Japanese. Neurology 1996;47:1349-50.
72. Clatworthy AE, GomezIsla T, Rebeck GW, et al. Lack of association of a polymorphism in the low-density lipoprotein receptor-related protein gene with Alzheimer disease. Arch Neurol 1997;54:1289-92.
73. Wavrant-DeVrieze F, PerezTur J, Lambert JC, et al. Association between the low density lipoprotein receptor-related protein (LRP) and Alzheimer's disease. Neurosci Lett 1997; 227:68-70.
74. Fallin D, Kundtz A, Town T, et al. No association between the low density lipoprotein receptor-related protein (LRP) gene and late-onset Alzheimer's disease in a community-based sample. Neurosci Lett 1997;233:145-7.
75. Kang DE, Saitoh T, Chen X, et al. Genetic association of the low-density lipoprotein receptor-related protein gene (LRP), an apolipoprotein E receptor, with late-onset Alzheimer's disease. Nerology 1997;49:56-61.
76. Lambert JC, Wavrant-DeVrieze F, Amouyel P, et al. Association at LRP gene locus with sporadic late-onset Alzheimer's disease. Lancet 1998;351:1787-8.
77. Pericak-Vance MA, Bass MP, Yamaoka LH, et al. Complete genomic screen in late-onset familial Alzheimer disease-evidence for a new locus on chromosome 12. JAMA 1997; 278:1237-41.
78. Rebeck GW, Harr SD, Strickland DK, et al. Multiple, diverse senile plaque-associated proteins are ligands of an apolipoprotein-E receptor, the alpha(2)-macroglobulin receptor low-density-lipoprotein receptor-related protein. Ann Neurol 1995;37:211-17.
79. Du YS, Ni BH, Glinn M, et al. Alpha(2)-macroglobulin as a beta-amyloid peptide-binding plasma protein. J Neurochem 1997;69:299-305.
80. Hughes SR, Khorkova O, Goyal S, et al. Alpha(2)-macroglobulin associates with beta-amyloid peptide and prevents fibril formation. Proc Natl Acad Sci USA 1998;95: 3275-80.
81. Du YS, Bales KR, Dodel RC, et al. Alpha(2)-macroglobulin attenuates beta-amyloid peptide 1-40 fibril formation and associated neurotoxicity of cultured fetal rat cortical neurons. J Neurochem 1998;70:1182-8.
82. Kounnas MZ, Moir RD, Rebeck GW, et al. LDL receptor-related protein, a multifunctional ApoE receptor, binds secreted beta-amyloid precursor protein and mediates its degradation. Cell 1995;82:331-40.
83. Matthijs G, Marynen P. A deletion polymorphism in the human alpha-2-macroglobulin (A2M) gene. Nucleic Acids Res 1991;19:5102.
84. Blacker D, Wilcox MA, Laird NM, et al. Alpha-2-macroglobulin is genetically associated with Alzheimer disease. Nat Genet 1998;19:357-60.
85. Schellenberg GD, Payami H, Wijsman EM, et al. Chromosome-14 and late-onset familial Alzheimer-disease (FAD). Am J Hum Genet 1993;53:619-28.
86. Wragg M, Hutton M, Talbot C, et al. Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's-disease. Lancet 1996;347:509-12.
87. Kehoe P, Williams J, Lovestone S, et al. Presenilin-1 polymorphism and Alzhemier's-disease. Lancet 1996;347: 1185.
88. Higuchi S, Muramatsu T, Matsushita S, et al. Presenilin-1 polymorphism and Alzheimer's-disease. Lancet 1996;347: 1186.
89. Scott WK, Roses AD, Haines JL, et al. Presenilin-1 polymorphism and Alzheimer's-disease. Lancet 1996;347: 1560.
90. Perez-Tur J, Wavrant-DeVrieze F, Lambert JC, et al. Presenilin-1 polymorphism and Alzheimer's-disease. Lancet 1996;347:1560-1.
91. Tysoe C, Whittaker J, Cairns NJ, et al. Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease. Neurosci Lett 1997;222:68 9.
92. Tysoe C, Galinsky D, Robinson D, et al. Analysis of alpha-1 antichymotrypsin, presenilin-1, angiotensin-converting enzyme, and methylenetetrahydrofolate reductase loci as candidates for dementia. Am J Med Genet 1997;74:207-12.
93. Perry EK, Perry RH, Blessed G, et al. Changes in brain cholinesterases in senile dementia of Alzheimer type. Neuropathol Appl Neurobiol 1978;4:273-7.
94. Carson KA, Geula C, Mesulam MM. Electron-microscopic localization of cholinesterase activity in Alzheimer brain-tissue. Brain Res 1991;540:204-8.
95. Mesulam MM, Geula C. Butyrylcholinesterase reactivity differentiates the amyloid plaques of aging from those of dementia. Ann Neurol 1994;36:722-7.
96. Gomez-Ramos P, Bouras C, Moran MA. Ultrastructural-localization of butyrylcholinesterase on neurofibrillary degeneration sites in the brains of aged and Alzheimer's-disease patients. Brain Res 1994;640:17-24.
97. Bartels CF, Jensen FS, Lockridge O, et al. DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites. Am J Hum Genet 1992;50:1086-103.
98. Lehmann DJ, Johnston C, Smith AD. Synergy between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset confirmed Alzheimer's disease. Hum Mol Genet 1997;6:1933-6.
99. Brindle N, Song Y, Rogaeva E, et al. Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease. Hum Mol Genet 1998;7:933-5.
100. Singleton AB, Smith G, Gibson AM, et al. No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease. Hum Mol Genet 1998;7:937-9.
101. Ma JY, Yee A, Brewer HB, et al. Amyloid-associated proteins alpha(1)-antichymotrypsin and apolipoprotein-E promote assembly of Alzheimer beta-protein into filaments. Nature 1994;372:92-4.
102. Kamboh MI, Sanghera DK, Ferrell RE, et al. APOE4-associated Alzheimer's-disease risk is modified by alpha-1-antichymotrypsin polymorphism. Nat Genet 1995;10:486-8.
103. Thome J, Baumer A, Kornhuber J, et al. Alpha-1-antichymotrypsin bi-allele polymorphism, apolipoprotein-E tri-allele polymorphism and genetic risk of Alzheimer's syndrome. J Neural Transm Park Dis Dement Sect 1995;10:207-12.
104. Yoshiiwa A, Kamino K, Yamamoto H, et al. Alpha(1)-antichymotrypsin as a risk modifier for late-onset Alzheimer's disease in Japanese apolipoprotein E epsilon 4 allele carriers. Ann Neurol 1997;42:115-17.
105. Yamamoto M, Kondo I, Ogawa N, et al. Genetic association between susceptibility to Parkinson's disease and alpha(1)-antichymotrypsin polymorphism. Brain Res 1997;759:153-5.
106. Nacmias B, Tedde A, Latorraca S, et al. Apolipoprotein-E and alpha(1)-antichymotrypsin polymorphism in Alzheimer's-disease. Ann Neurol 1996;40:678-80.
107. Fallin D, Reading S, Schinka J, et al. No interaction between the APOE and the alpha-1-antichymotrypsin genes on risk for Alzheimer's disease. Am J Med Genet 1997;74:192-4.
108. Didierjean O, Martinez M, Campion D, et al. No effect of the alpha 1-antichymotrypsin A allele in Alzheimer's disease. J Neurol Neurosurg Psychiatry 1997;63:103-5.
109. Talbot C, Houlden H, Craddock N, et al. Polymorphism in AACT gene may lower age-of-onset of Alzheimer's-disease. Neuroreport 1996;7:534-6.
110. Murphy GM, Sullivan EV, Gallagher Thompson D, et al. No association between the alpha 1-antichymotrypsin A allele and Alzheimer's disease. Neurology 1997;48:1313-16.
111. Haines JL, Pritchard ML, Saunders AM, et al. No association between alpha 1-antichymotrypsin and familial Alzheimer's disease. Ann N Y Acad Sci 1996;802:35-41.
112. Haines JL, Pritchard ML, Saunders AM, et al. No genetic effect of alpha(1)-antichymotrypsin in Alzheimer-disease. Genomics 1996;33:53-6.
113. Morgan K, Morgan L, Carpenter K, et al. Microsatellite polymorphism of the alpha(1)-antichymotrypsin gene locus associated with sporadic Alzheimer's disease. Hum Genet 1997;99:27-31.
114. Edland SD, Silverman JM, Peskind ER, et al. Increased risk of dementia in mothers of Alzheimer's-disease cases -evidence for maternal inheritance. Neurology 1996;47:254-6.
115. Davis RE, Miller S, Herrnstadt C, et al. Mutations in mitochondrial cytochrome C oxidase genes segregate with late-onset Alzheimer disease. Proc Natl Acad Sci USA 1997;94: 4526-31.
116. Lin FH, Lin R, Wisniewski HM, et al. Detection of point mutations in codon-331 of mitochondrial NADH dehydrogenase subunit-2 in Alzheimer brains. Biochem Biophys Res Commun 1992;182:238-46.
117. Hutchin TP, Heath PR, Pearson RCA, et al. Mitochondrial DNA mutations in Alzheimer's disease. Biochem Biophys Res Commun 1997;241:221-5.
118. Petruzzella V, Chen X, Schon EA. Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's-disease. Biochem Biophys Res Commun 1992;186:491-7.
119. Shoffner JM, Brown MD, Torroni A, et al. Mitochondrial-DNA variants observed in Alzheimer-disease and Parkinson disease patients. Genomics 1993;17:171-84.
120. Hutchin T, Cortopassi G. A mitochondrial-DNA clone is associated with increased risk for Alzeimer-disease. Proc Natl Acad Sci USA 1995;92:6892-5.
121. Wragg MA, Talbot CJ, Morris JC, et al. No association found between Alzheimer's-disease and a mitochondrial transfer-RNA glutamine gene variant. Neurosci Lett 1995; 201:107-10.
122. Tysoe C, Robinson D, Brayne C, et al. The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years. J Med Genet 1996;33:1002-6.
123. Zubenko GS, Stiffler JS, Hughes HB, et al. Initial results of a genome survey for novel Alzheimer's disease risk genes: association with a locus on the X chromosome. Am J Med Genet 1998;81:98-107.
124. Lehmann DJ, Johnston C, Cortina Borja M, et al. Age influences the synergy between butyrylcholinesterase K variant and apolipoprotein E ε4 in late-onset Alzheimer's disease. In: Doctor BP, et al., eds. Structure and function of cholinesterases and related proteins. New York: Plenum Publishing Corporation, 1998. [In press.]
125. Bowen DM, Smith CB, White P, et al. Neurotransmitter-related enzymes and indices of hypoxia in senile dementia and other abiotrophies. Brain 1976;99:459-96.
126. Davies P, Maloney AJF. Selective loss of central cholinergic neurons in Alzheimer's disease. Lancet 1976;ii:1403.
127. Perry EK, Perry RH, Blessed G, et al. Necropsy evidence of central cholinergic deficits in senile dementia. Lancet 1977; i:189.
128. Wolozin BL, Pruchnicki A, Dickson DW, et al. A neuronal antigen in the brains of Alzheimer patients. Science 1986;232:648-50.
129. Palmer AM, Procter AW, Stratmann GC, et al. Excitatory amino acid-releasing and cholinergic neurons in Alzheimer's-disease. Neurosci Lett 1986;66:199-204.
130. Kish SJ, Elawar M, Schut L, et al. Cognitive deficits in olivopontocerebellar atrophy - implications for the cholinergic hypothesis of Alzheimer's dementia. Ann Neurol 1988;24:200-6.
131. Hardy JA, Higgins GA. Alzheimer's-disease - the amyloid cascade hypothesis. Science 1992;256:184-5.
132. Whitson JS, Selkoe DJ, Cotman CW. Amyloid-beta protein enhances the survival of hippocampal-neurons in vitro. Science 1980;243:1488-90.
133. Whitson JS, Glabe CG, Shintani E, et al. Beta-amyloid protein promotes neuritic branching in hippocampal cultures. Neurosci Lett 1900;110:319-24.
134. Yankner BA, Dawes LR, Fisher S, et al. Neurotoxicity of a fragment of the amyloid precursor associated with Alzheimer's-disease. Science 1989;245:417-20.
135. Yankner BA, Duffy LK, Kirschner DA. Neurotrophic and neurotoxic effects of amyloid beta-protein - reversal by tachykinin neuropeptides. Science 1990;250:279-82.
136. Pike CJ, Walencewicz AJ, Glabe CG, et al. In vitro aging of beta-amyloid protein causes peptide aggregation and neurotoxicity. Brain Res 1991;563:311-14.
137. Whitson JS, Mims MP, Strittmatter WJ, et al. Attenuation of the neurotoxic effect of a-beta amyloid peptide by apolipoprotein-E. Biochem Biophys Res Commun 1994;199: 163-70.
138. Aksenov MY, Aksenova MV, Carney JM, et al. Alpha-1-antichymotrypsin interaction with a-beta(1-42) does not inhibit fibril formation but attenuates the peptide toxicity. Neurosci Lett 1996;217:117-20.
139. Koh JY, Yang LL, Cotman CW. Beta-amyloid protein increases the vulnerability of cultured cortical-neurons to excitotoxic damage. Brain Res 1990;533:315-20.
140. Baudier J, Cole RD. Phosphorylation of tau-proteins to a state like that in Alzheimer's brain is catalyzed by a calcium calmodulin-dependent kinase and modulated by phospholipids. J Biol Chem 1987;262:17577-83.
141. Braak H, Braak E, Bohl J, et al. Age, neurofibrillary changes, a-beta-amyloid and the onset of Alzheimer's-disease. Neurosci Lett 1996;210:87-90.
142. Drechsel DN, Hyman AA, Cobb MH, et al. Modulation of the dynamic instability of tubulin assembly by the microtubule-associated protein tau. Mol Biol Cell 1992;3: 1141-54.
143. Terry RD. The pathogenesis of Alzheimer-disease - an alternative to the amyloid hypothesis. J Neuropathol Exp Neurol 1996;55:1023-5.
144. Matsubara E, Amari M, Shoji M, et al. CSF alpha-1-antichymotrypsin level is elevated in patients with Alzheimer-type dementia. Neurobiol Aging 1990;11:333.
145. Fillit H, Ding W, Buee L, et al. Elevated circulating tumor-necrosis-factor levels in Alzheimer's-disease. Neurosci Lett 1991;129:318-20.
146. Eikelenboom P, Hack CE, Kamphorst W, et al. Distribution pattern and functional-state of complement proteins and alpha-1-antichymotrypsin in cerebral beta A4 deposits in Alzheimer's-disease. Res Immunol 1992;143:617-20.
147. Mackiewicz A, Speroff T, Ganapathi MK, et al. Effects of cytokine combinations on acute phase protein production in two human hepatoma cell lines. J Immunol 1991;146: 3032-7.
148. Kordula T, Rydel RE, Brigham EF, et al. Oncostatin M and the interleukin-6 and soluble interleukin-6 receptor complex regulate alpha(1)-antichymotrypsin expression in human cortical astrocytes. J Biol Chem 1998;273:4112-18.
149. Goldgaber D, Harris HW, Hla T, et al. Interleukin-1 regulates synthesis of amyloid beta-protein precursor messenger-RNA in human-endothelial cells. Proc Natl Acad Sci USA 1989;86:7606-10.
150. Griffin WST, Stanley LC, Ling C, et al. Brain interleukin-1 and S-100 immunoreactivity are elevated in Down syndrome and Alzheimer-disease. Proc Natl Acad Sci USA 1989;86:7611-15.
151. Pappolla MA, Omar RA, Kim KS, et al. Immunohistochemical evidence of antioxidant stress in Alzheimer's-disease. Am J Pathol 1992;140:621-8.
152. Smith MA, Kutty RK, Richey PL, et al. Heme oxygenase-1 is associated with the neurofibrillary pathology of Alzheimer's-disease. Am J Pathol 1994;145:42-7.
153. Behl C, Davis JB, Lesley R, et al. Hydrogen-peroxide mediates amyloid-beta protein toxicity. Cell 1994;77:817-27.
154. Gabuzda D, Busciglio J, Chen LB, et al. Inhibition of energy-metabolism alters the processing of amyloid precursor protein and induces a potentially amyloidogenic derivative. J Biol Chem 1994;269:13623-8.
155. Mattson MP, Guo Q, Furukawa K, et al. Presenilins, the endoplasmic reticulum, and neuronal apoptosis in Alzheimer's disease. J Neurochem 1998;70:1-14.
156. Guo Q, Furukawa K, Sopher BL, et al. Alzheimer's PS-1 mutation perturbs calcium homeostasis and sensitizes PC12 cells to death induced by amyloid beta-peptide. Neuroreport 1996;8:379-83.
157. Guo Q, Sopher BL, Furukawa K, et al. Alzheimer's presenilin mutation sensitizes neural cells to apoptosis induced by trophic factor withdrawal and amyloid beta-peptide: involvement of calcium and oxyradicals. J Neurosci 1997;17:4212-22.
158. Trounce I, Byrne E, Marzuki S. Decline in skeletal-muscle mitochondrial respiratory-chain function - possible factor in aging. Lancet 1989;1:637-9.
159. Mullerhocker J. Cytochrome-C-oxidase deficient cardiomyocytes in the human heart an age-related phenomenon a histochemical ultracytochemical study. Am J Pathol 1989;134:1167-73.
160. Yen TC, Chen YS, King KL, et al. Liver mitochondrial respiratory functions decline with age. Biochem Biophys Res Commun 1989;165:994-1003.
161. Sims NR, Finegan JM, Blass JP. Altered metabolic properties of cultured skin fibroblasts in Alzheimer's-disease. Ann Neurol 1987;21:451-7.
162. Parker WD, Filley CM, Parks JK. Cytochrome-oxidase deficiency in Alzheimer's-disease. Neurology 1990;40:1302-3.
163. Forloni G, Chiesa R, Smiroldo S, et al. Apoptosis mediated neurotoxicity induced by chronic application of beta-amyloid fragment 25-35. Neuroreport 1993;4:523-6.
164. Loo DT, Copani A, Pike CJ, et al. Apoptosis is induced by beta-amyloid in cultured central-nervous-system neurons. Proc Natl Acad Sci USA 1993;90:7951-5.
165. Yamatsuji T, Okamoto T, Takeda S, et al. Expression of V642 APP mutant causes cellular apoptosis as Alzheimer trait-linked phenotype. EMBO J 1996;15:498-509.
166. Wolozin B, Iwasaki K, Vito P, et al. Participation of presenilin-2 in apoptosis - enhanced basal activity conferred by an Alzheimer mutation. Science 1996;274:1710-13.
167. Paradis E, Douillard H, Koutroumanis M, et a. Amyloid beta peptide of Alzheimer's disease downregulates bcl-2 and upregulates bax expression in human neurons. J Neurosci 1996;16:7533-9.
168. Su JH, Deng GM, Cotman CW. Bax protein expression is increased in Alzheimer's brain: correlations with DNA damage, Bcl-2 expression, and brain pathology. J Neuropathol Exp Neurol 1997;56:86-93.
169. Dragunow M, Faull RLM, Lawlor P, et al. In-situ evidence for DNA fragmentation in Huntington's-disease striatum and Alzheimer's-disease temporal lobes. Neuroreport 1995; 6:1053-7.
170. Lassmann H, Bancher C, Breitschopf H, et al. Cell-death in Alzheimer's-disease evaluated by DNA fragmentation in-situ. Acta Neuropathol 1995;89:35-41.
171. Lucassen PJ, Chung WCJ, Kamphorst W, et al. DNA damage distribution in the human brain as shown by in situ end labeling; area-specific differences in aging and Alzheimer disease in the absence of apoptotic morphology. J Neuropathol Exp Neurol 1997;56:887-900.
172. Smale G, Nichols NR, Brady DR, et al. Evidence for apoptotic cell-death in Alzheimer's-disease. Exp Neurol 1995; 133:225-30.
173. Stadelmann C, Bruck W, Bancher C, et al. Alzheimer disease: DNA fragmentation indicates increased neuronal vulnerability, but not apoptosis. J Neuropathol Exp Neurol 1998;57:456-64.
174. Van Leeuwen FW, deKleijn DPV, vandenHurk HH, et al. Frameshift mutants of beta amyloid precursor protein and ubiquitin-B in Alzheimer's and Down patients. Science 1998;279:242-7.
175. Vlassara H. Recent progress on the biologic and clinical-significance of advanced glycosylation end-products. J Lab Clin Med 1994;124:19-30.
176. Li YM, Steffes M, Donnelly T, et al. Prevention of cardiovascular and renal pathology of aging by the advanced glycation inhibitor aminoguanidine. Proc Natl Acad Sci USA 1996;93:3902-7.
177. Vitek MP, Bhattacharya K, Glendening JM, et al. Advanced glycation end-products contribute to amyloidosis in Alzheimer-disease. Proc Natl Acad Sci USA 1994;91: 4766-70.
178. Li YM, Dickson DW. Enhanced binding of advanced glycation endproducts (AGE) by the ApoE4 isoform links the mechanism of plaque deposition in Alzheimer's disease. Neurosci Lett 1997;226:155-8.