Genetics and the dementia patient

Neurologist

Volumn 3, Issue 1, 1997, Pages 13-30

  Farrer, Lindsay A ^a,b,c  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BOSTON UNIVERSITY   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Alzheimer's disease; Amyloid precursor protein (APP); Apolipoprotein E (APOE); Diagnostic test; Genetics; Predictive test; Predictive value; Presenilin genes (PS1, PS2); Risk factor

Indexed keywords

EID: 0002687033     PISSN: 10747931     EISSN: None     Source Type: Journal    
DOI: 10.1097/00127893-199701000-00003     Document Type: Article

References (282)

1. Evans DA. Estimated prevalence of Alzheimer's disease in the United States. Millbank Q 1990;68:267-89.
2. Mortimer JA, Schuman LM, editors. The epidemiology of dementia. New York: Oxford, 1990.
3. Evans DA, Funkenstein HH, Albert MS, Scherr PA, Cook NR, Chown MJ, et al. Prevalence of Alzheimer's disease in an community population of older persons. JAMA 1989;262:2551-6.
4. Mullan M, Crawford F, Buchanan J. Technical feasibility of genetic testing for Alzheimer's disease. Alzheimer Dis Assoc Disord 1994;8: 102-15.
5. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan E. Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA work group under the auspices of the Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984;34:939-45.
6. American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 4th ed. Washington, DC: American Psychiatric Association, 1994.
7. Joachim CL, Morris JH, Selkoe DJ. Clinically diagnosed Alzheimer's disease: Autopsy results in 150 cases. Ann Neurol 1988;24:50-6.
8. Berg L, Morris JC. Diagnosis. In: Terry RD, Katzman R, Dick K, editors. Alzheimer disease. New York: Raven, 1994:9-21.
9. Risse SC, Raskind MA, Nochlin D, Sumi SM, Lampe TH, Bird TD, et al. Neuropathological findings in patients with clinical diagnoses of probable Alzheimer's disease. Am J Psychiatry 1990;147: 168-72.
10. van Duijn CM. Epidemiology of the dementias: Recent developments and new approaches. J Neurol Neurosurg Psychiatry 1996;60: 478-88.
11. Breteler MMB, Claus JJ, van Duijn CM, Launer LJ, Hofman A. Epidemiology of Alzheimer's disease. Epidemiol Rev 1992;14:59-82.
12. Flugel FE. Zur diagnostik der Alzheimerschen Krankheit. Z Gesamte Neurol Psychiatry 1929;120:783-7.
13. Lauter H. Genealogische Erhebungen in einer Familie mit Alzheimerschen Krankheit. Arch Psychiatry Z Gesamte Neurol 1961;202: 126-39.
14. Feldman RG, Chandler KA, Levy LL, Glaser GH. Familial Alzheimer's disease. Neurology 1963;13:811-23.
15. Nahman S, Rabinowicz T. Considerations sur un cas familial de la maladie d'Alzheimer. Encephale 1963;52:369-81.
16. St. George-Hyslop PH, Myers RH, Haines JL, Farrer LA, Tanzi RE, Abe K, et al. Familial Alzheimer's disease: Progress and problems. Neurobiol Aging 1989;10:417-25.
17. Kallman FJ. Genetic aspects of mental disorders in later life. In: Kaplan OJ, editor. Mental disorders in later life. 2nd ed. Stanford, NJ: Stanford University Press, 1956:26-46.
18. Jarvik LF, Ruth V, Matsuyama SS. Organic brain syndrome and aging: A six-year follow-up of surviving twins. Arch Gen Psychiatry 1980;37:280-6.
19. Nee LE, Eldridge R, Sunderland T, Thomas CB, Katz D, Thompson KE, et al. Dementia of the Alzheimer type: Clinical and family study of 22 twin pairs. Neurology 1987;37:359-63.
20. Rapoport SI, Pettigrew KD, Schapiro MB. Discordance and concordance of dementia of the Alzheimer type (DAT) in monozygotic twins indicate heritable and sporadic forms of Alzheimer's disease. Neurology 1991;41:1549-53.
21. Breitner JCS, Welsh KA, Gau BA, McDonald WM, Steffens DC, Saunders AM, et al. Alzheimer's disease in the National Academy of Sciences-National Research Council Registry of Aging Twin Veterans. Arch Neurol 1995;52:763-71.
22. Karlinsky H, Lennox A, Atack EA, Ray PN, St. George-Hyslop P, Farrer LA, et al. Monozygotic twins concordant for late-onset Alzheimer disease with suspected Alzheimer disease in four sibs. Am J Med Genet 1992;44:591-7.
23. Kaplan EL, Meier P. Non-parametric estimation from incomplete observations. J Am Statist Assoc 1958;53:457-81.
24. Chase GA, Folstein MF, Breitner JCS, Beaty TH, Self SG. The use of life tables and survival analysis in testing genetic hypotheses, with an application to Alzheimer's disease. Am J Epidemiol 1983;117: 590-7.
25. Cupples LA, Terrin NC, Myers RH, D'Agostino RB. Using survival methods to estimate age at onset distribution for genetic disease with an application to Huntington's disease. Genet Epidemiol 1989;6:361-71.
26. Cupples LA, Risch N, Farrer LA, Myers RH. Estimation of age at onset with missing information of onset. Am J Hum Genet 1991;49: 76-87.
27. Breitner JCS, Folstein MF. Familial Alzheimer dementia: A prevalent disorder with specific clinical features. Psychol Med 1984;14: 63-80.
28. Mohs CR, Breitner JCS, Silverman JM, Davis KL. Alzheimer's disease, morbid risk among first-degree relatives approximates 50% by 90 years of age. Arch Gen Psychiatry 1987;44:405-8.
29. Breitner JCS, Silverman JM, Mohs RC, Davis KL. Familial aggregation in Alzheimer's disease: Comparison of risk among relatives of early- and late-onset cases, and among male and female relatives in successive generations. Neurology 1988;38:207-12.
30. Martin RL, Gerteis G, Gabrielli WF. A family-genetic study of dementia of Alzheimer type. Arch Gen Psychiatry 1988;45:894-900.
31. Huff FJ, Auerbach J, Chakravarti A, Boller F. Risk of dementia in relatives of patients with Alzheimer's disease. Neurology 1988;38: 786-90.
32. Sadovnick AD, Irwin ME, Baird PA, Beattie BL. Genetic studies on an Alzheimer clinic population. Genet Epidemiol 1989;6:633-43.
33. Farrer LA, O'Sullivan DM, Cupples A, Growdon JH, Myers RH. Assessment of genetic risk for Alzheimer's disease among first-degree relatives. Ann Neurol 1989;25:485-93.
34. Mayeux R, Sano M, Chen J, Tatemichi T, Stern Y. Risk of dementia in first-degree relatives of patients with Alzheimer's disease and related disorders. Arch Neurol 1991;48:269-73.
35. van Duijn CM, Farrer LA, Cupples LA, Hofman A. Genetic transmission for Alzheimer's disease among patients identified in a Dutch population based survey. J Med Genet 1993;30:640-6.
36. Korten AE, Jorm AF, Henderson AS, Broe GA, Creasey H, McCusker E. Assessing the risk of Alzheimer's disease in first-degree relatives of Alzheimer's disease cases. Psychol Med 1993;23:915-23.
37. Hirst C, Yee IML, Sadovnick AD. Familial risk for Alzheimer's disease from a population-based series. Genet Epidemiol 1994;11:365-74.
38. Payami H, Montee K, Kaye J. Evidence for familial factors that protect against dementia and outweigh the effect of increasing age. Am J Hum Genet 1994;54:650-7.
39. Silverman JM, Li G, Zaccario ML, Smith CJ, Schmeidler J, Mohs RC, et al. Patterns of risk in first degree relatives of Alzheimer's disease patients. Arch Gen Psychiatry 1994;51:577-86.
40. Lautenschlager NT, Cupples LA, Rao VS, Auerbach SA, Becker R, Burke J, et al. Risk of dementia among relatives of Alzheimer disease patients in the MIRAGE study: What's in store for the "oldest old"? Neurology 1996;46:641-50.
41. Morton NE. Segregation and linkage. In: Burdette J, editor. Methodology in human genetics. San Francisco: Holden-Day, 1962:17-52.
42. Farrer LA, Cupples LA, Blackburn S, Kiely D, Auerbach S, Growdon J, et al. Interrater agreement for diagnosis of Alzheimer disease: The MIRAGE study. Neurology 1994;44:652-6.
43. Schoenberg BS, Kokmen E, Okazaki H. Alzheimer's disease and other dementing illnesses in a defined United States population: incidence rates and clinical features. Ann Neurol 1987;22:724-9.
44. Hagnell Öjesö L, Rorsman B. Incidence of dementia in the Lundby study. Neuroepidemiology 1992;11(1 Suppl):61-6.
45. Bachman DL, Wolf PA, Linn RT, Knoefel JE, Cobb JL, Belanger AJ, et al. Incidence of dementia and probable Alzheimer's disease in a general population: The Framingham Study. Neurology 1993;43: 515-9.
46. Morton NE, MacLean C. Analysis of family resemblance. III. Complex segregation of quantitative traits. Am J Hum Genet 1974;26: 489-503.
47. Farrer LA, Myers RH, Connor L, Cupples LA, Growdon JH. Segregation analysis reveals evidence of a major gene for Alzheimer disease. Am J Hum Genet 1991;48:1026-33.
48. Rao VS, van Duijn CM, Connor LL, Cupples LA, Growdon JH, Farrer LA. Multiple etiologies for Alzheimer disease are revealed by segregation analysis. Am J Hum Genet 1994;55:991-1000.
49. Bonney GE. On the statistical determination of major gene mechanisms in continuous human traits: regressive models. Am J Med Genet 1984;18:731-49.
50. Bonney GE. Regressive logistic models for familial disease and other binary traits. Biometrics 1986;42:611-25.
51. Farrer LA, Myers RH, Cupples LA, St. George-Hyslop PH, Bird TD, Rossor MN, et al. Transmission and age at onset patterns in familial Alzheimer's disease: Evidence for heterogeneity. Neurology 1990;40:395-403.
52. Pericak-Vance MA, Haines JL. Generic susceptibility to Alzheimer disease. Trends Generics 1995;11:504-8.
53. St. George-Hyslop PH, Tanzi RE, Polinsky R, Haines JL, Nee L, Watkins PC, et al. The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science 1987;235:885-90.
54. St. George-Hyslop PH, Haines JL, Farrer LA, Polinsky R, Van Broeckhoven C, Goate A, et al. Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature 1990;347:194-7.
55. Schellenberg GD, Bird TD, Wijsman EM, Moore DK, Boehnke M, Bryant EM, et al. Absence of linkage of chromosome 21q21 markers to familial Alzheimer's disease. Science 1988;241:1507-10.
56. Goldgaber D, Lerman MI, McBride OW, Saffiotti U, Gajdusek DC. Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease. Science 1987;235:877-80.
57. Tanzi RE, Gusella JF, Watkins PC, Bruns GAP, St. George-Hyslop PH, Van Keuren ML, et al. Amyloid beta protein gene: cDNA, mDNA distribution and genetic linkage near the Alzheimer locus. Science 1987;235:880-4.
58. Holland AJ, Oliver C. Down's syndrome and the links with Alzheimer's disease. J Neurol Neurosurg Psychiatry 1995;59:111-4.
59. Tanzi RE, St. George-Hyslop PH, Haines JL, Polinsky RJ, Nee L, Foncin J-F, et al. The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid b-protein gene. Nature 1987; 329:156-7.
60. Broeckhoven C, Genthe AM, Vandenberghe A, Hosthemke B, Backhovens H, Raeymakers P, et al. Failure of familial Alzheimer's disease to segregate with the A-4 amyloid gene in several European families. Nature 1987;329:153-5.
61. Goate A, Chartier-Harlin M-C, Mullan M, Brown J, Crawford F, Fidani L, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991;349:704-6.
62. Chartier-Harlin M-C, Crawford F, Mullan M, Houlden H, Warren A, Hughes D, et al. Early-onset Alzheimer's disease caused by mutation at codon 717 of the beta-amyloid precursor protein gene. Nature 1991;353:844-6.
63. Murrell J, Farlow M, Ghetti B, Benson MD. A mutation in the amyloid precursor protein associated with hereditary Alzheimer disease. Science 1991;254:97-9.
64. Naruse S, Igarashi S, Aoki K, Kaneko K, Iihara K, Miyatake T, et al. Missense mutation Val-Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease [letter]. Lancet 1991;337:978-9.
65. van Duijn CM, Hendriks L, Cruts M, Hardy JA, Hofman A, Van Broeckhoven C. Amyloid precursor protein gene mutation in early-onset Alzheimer's disease [letter]. Lancet 1991;337:978.
66. Mullan M, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B, Lannfelt L. A pathogenic mutation for probable Alzheimer's disease in the APP gene of the N-terminus of beta-amyloid. Nat Genet 1992;1:345-7.
67. Mullan M, Crawford F. Genetic and molecular advances in Alzheimer's disease. Trends Neurosci 1993;16:398-403.
68. Tanzi RE, Vaula G, Romano DM, Mortilla M, Huang TL, Tupler RG, et al. Assessment of amyloid b-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. Am J Hum Genet 1992;51:273-82.
69. Levy E, Carman MD, Fernandez-Madrid IJ, Power MD, Lieberburg I, Van Duinen SG, et al. Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch-type. Science 1990;248:1124-6.
70. Hendricks L, van Duijn CM, Cras P, Cruts M, Van Hul W, van Harskamp F, et al. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β-amyloid precursor protein gene. Nat Genet 1992;1:218-21.
71. Suzuki N, Cheung TT, Cai X-D, Odaka A, Otvos L Jr, Eckman C, et al. An increased percentage of long amyloid b protein precursor (b APP717) mutants. Science 1994;264:1336-40.
72. Jarrett JT, Berger EP, Lansbury PT Jr. 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.
73. Selkoe DJ. Alzheimer's disease: A central role for amyloid. J Neuropathol Exp Neurol 1994;53:438-47.
74. Schellenberg GD, Bird TD, Wijsman EM, Orr HT, Anderson L, Nemens E, et al. Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science 1992;258:668-71.
75. St. George-Hyslop PH, Haines JL, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, et al. Genetic evidence for a novel familial Alzheimer disease locus on chromosome 14. Nat Genet 1992;2:330-4.
76. Van Broeckhoven C, Backhovens H, Cruts M, DeWinter G, Bruyland M, Cras P, et al. Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24. 3. Nat Genet 1992;2:335-9.
77. Mullan M, Houlden H, Windelspecht, Fidani L, Lombardi C, Diaz P, et al. A locus for familial early-onset Alzheimer disease on the long arm of chromosome 14, proximal to the a1-antichymotrypsin gene. Nat Genet 1992;2:340-2.
78. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995;375:754-60.
79. The Alzheimer's Disease Collaborative Group. The structure of the presenilin 1 gene and the identification of six mutations in early onset AD pedigrees. Nat Genet 1995;11:219-22.
80. Tanahashi H, Mitsunaga Y, Takahashi K, Tasaki H, Watanabe S, Tabira T. Missense mutation of S182 gene in Japanese familial Alzheimer's disease [letter]. Lancet 1995;346:440.
81. Cruts M, Martin J-J, Van Broeckhoven C. Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24. 3. Hum Mol Genet 1995;4:2363-71.
82. Campion D, Flaman J-M, Brice A, Hannequin D, Dubois B, Martin C, et al. Mutations of the presenilin I gene in families with early onset Alzheimer's disease. Hum Mol Genet 1995;4:2373-7.
83. Perez-Tur J, Froelich S, Prihar, Crook R, Baker M, Duff K, et al. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. Neuroreport 1996;7:297-301.
84. Hutton M, Busfield F, Wragg M, Crook R, Perez-Tur J, Clark RF, et al. Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease. Neuroreport 1996;7:801-5.
85. Wasco W, Pettingell WP, Jondro PD, Schmidt SD, Gurubhagavatula S, Rodes L, et al. Familial Alzheimer's chromosome 14 mutations [letter]. Nat Med 1995;1:848.
86. Van Broeckhoven C. Presenilins and Alzheimer disease. Nat Genet 1995;11:230-2.
87. Bird TD, Sumi SM, Nemens EJ, Nochlin D, Schellenberg G, Lampe TH, et al. Phenotypic heterogeneity in familial Alzheimer's disease: A study of 24 kindreds. Ann Neurol 1989;25:12-25.
88. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995;269:973-7.
89. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 1995;376:775-8.
90. Levy-Lahad E, Wijsman EM, Nemens E, Anderson L, Goddard KAD, Weber JL, et al. A familial Alzheimer's disease locus on chromosome I. Science 1995;269:970-3.
91. Zannis VI, Kardassis D, Zannis EE. Genetic mutations affecting human lipoproteins, their receptors, and their enzymes. Adv Hum Genet 1993;21:145-319.
92. Wu AI, Windmueller HG. Relative contribution of liver and intestine to individual plasma apolipoproteins in the rat. J Biol Chem 1979;254:7316-22.
93. Boyles J, Pitas RE, Wilson E, Mahley RW, Taylor JM. Apolipoprotein E associated with astrocytic glia of the central nervous system and with nonmyelinating glia of the central nervous system and with nonmyelinating glia at the peripheral nervous system. J Clin Invest 1985;76:1501-13.
94. Ignatius MJ, Gebicke-Harter PJ, Skene JHP, Schilling JW, Weisgraber KH, Mahley RW, et al. Expression of apolipoprotein E during nerve degeneration and regeneration. Proc Natl Acad Sci USA 1986;83:1125-9.
95. Pitas RE, Boyles JK, Lee SH, Foss D, Mahley RW. Astrocytes synthesize apolipoprotein E and metabolize apolipoprotein E-containing lipoproteins. Biochim Biophys Acta 1987;917:148-61.
96. Namba Y, Tomonaga M, Kawasaki H, Otomo E, Ikeda K. 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.
97. Prusiner SB, Hsiao KK, Bredesen DE, DeArmond SJ. In: McKendall RR, editor. Handbook of clinical neurology. vol. 12. Amsterdam: Elsevier, 1989:543-80.
98. Strittmatter WJ, Saunders AM, Schmechel D, Pericak-Vance M, Enghild J, Salvesen GS, et al. Apolipoprotein E: High avidity binding to β-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci USA 1993;90: 1977-81.
99. Wisniewski T, Frangione B. Apolipoprotein E: A pathological chaperone protein in patients with cerebral and systemic amyloid. Neurosci Lett 1992;135:235-8.
100. Farrer LA, Abraham C, Volicer L, Foley EJ, Kowall N, McKee A, et al. Allele ε4 of apolipoprotein E shows a dose effect on age at onset of Pick disease. Exp Neurol 1995;136:162-70.
101. Utermann G, Pruin N, Steinmetz A. Polymorphism of apolipoprotein E. III. Effect of a single polymorphic gene locus on plasma lipid levels in man. Clin Genet 1979;15:63-72.
102. Utermann G. Genetic polymorphism of apolipoprotein E-impact on plasma lipoprotein metabolism. In: Crepaldi G, Tiengo A, Baggio G, editors. Diabetes, obesity and hyperlipidemias. Amsterdam: Excerpta Medica, 1985:1-28.
103. Boerwinkle E, Utermann G. Simultaneous effects of the apolipoprotein E polymorphism, on apolipoprotein E, apolipoprotein B, and cholesterol metabolism. Am J Hum Genet 1988;42:104-22.
104. Davignon J, Gregg RE, Sing CF. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 1988;8:1-21.
105. Wilson PW, Myers RH, Larson MG, Ordovas JM, Wolf PA, Schaefer EJ. Apolipoprotein E alleles, dyslipidemia, and coronary heart disease. The Framingham Offspring Study. JAMA 1994;272: 1666-71.
106. Van Bockxmeer FM, Mamotte CD. Apolipoprotein ε4 homozygosity in young men with coronary heart disease [letter]. Lancet 1992; 340:879-80.
107. Stengard JH, Zerba KE, Pekkanen J, Ehnholm C, Nissinen A, Sing CF. Apolipoprotein E polymorphism predicts death from coronary heart disease in a longitudinal study of elderly Finnish men. Circulation 1995;91:265-9.
108. Pericak-Vance MA, Bebout JL, Gaskell PC, Yamaoka LH, Hung W-Y, Alberts MJ, et al. Linkage studies in familial Alzheimer disease: Evidence for chromosome 19 linkage. Am J Hum Genet 1991; 48:1034-50.
109. Saunders AM, Strittmatter WJ, Schmechel D, St. George-Hyslop PH, Pericak-Vance MA, Joo SH, et al. Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology 1993;43:1467-72.
110. Roses AD. Apolipoprotein E affects the rate of Alzheimer disease expression: Beta-amyloid burden is a secondary consequence dependent on APOE genotype and duration of disease. J Neuropathol Exp Neurol 1994;53:429-37.
111. Nalbantoglu J, Gilfix DM, Bertrand P, Robitaille Y, Gauthier S, Rosenblatt DS, et al. Predictive value of apolipoprotein E genotyping in Alzheimer's disease: Results of an autopsy series and an analysis of several combined studies. Ann Neurol 1994;36:889-95.
112. Roses AD, Devlin B, Conneolly PM, Small GW, Saunders AM, Pritchard M, et al. Measuring the genetic contribution of APOE in late-onset Alzheimer disease (AD) [abstract]. Am J Hum Genet 1995;57:A202.
113. Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, 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.
114. Tsai MS, Tangalos EG, Petersen RC, Smith GE, Schaid DJ, Kokmen E, et al. Apolipoprotein E: Risk factor for Alzheimer disease. Am J Hum Genet 1994;54:643-9.
115. Lucotte G, David F, Visvikis S, Leininger-Muller B, Siest G, Babron MC, et al. Apolipoprotein E-ε4 allele and Alzheimer's disease [letter]. Lancet 1993;342:1309.
116. Brousseau T, Legrain S, Berr C, Gourlet V, Vidal O, Amouyel P. Confirmation of the epsilon 4 allele of the apolipoprotein E gene as a risk factor for late-onset Alzheimer's disease. Neurology 1994;44: 342-4.
117. Liddell M, Williams J, Bayer A, Kaiser F, Owen M. Confirmation of association between the ε4 allele of apolipoprotein E and Alzheimer's disease. J Med Genet 1994;31:197-200.
118. Mahieux F, Couderc R, Moulingnier A, Bailleul S, Podrabinek N, Laudet J. Apolipoprotein ε4: Phenotype in patients with Alzheimer's disease [letter]. Ann Neurol 1994;35:506.
119. Kuusisto J, Koivisto K, Kervinen K, Mykkanen L, Helkala EL, Vanhanen M, et al. Association of apolipoprotein E phenotypes with late onset Alzheimer's disease: Population based study. Br Med J 1994;309:636-8.
120. van Duijn CM, de Knijff P, Cruts M, Wehnert A, Havekes LM, Hofman A, et al. Apolipoprotein ε4 allele in a population-based study of early-onset Alzheimer's disease. Nat Genet 1994;7:74-8.
121. Maestre G, Ottman R, Stern Y, Gurland B, Chun M, Tang MX, et al. Apolipoprotein E and Alzheimer's disease: Ethnic variation in genorypic risks. Ann Neurol 1995;37:254-9.
122. Myers RH, Schaefer EJ, Wilson PWF, D'Agostino R, Ordovas JM, Espino A, et al. Apolipoprotein E ε4 association with dementia in a population based study: The Framingham Study. Neurology 1996; 46:673-7.
123. Corder EH, Saunders AM, Risch NJ, Strittmatter WJ, Schmechel DE, Gaskell PC Jr, et al. Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nat Genet 1994;7:180-4.
124. Smith AD, Johnston C, Sim E, Nagy Z, Jobst KA, Hindley M, King E. Protective effect of apoE ε2 in Alzheimer's disease [letter]. Lancet 1994;344:473-4.
125. Talbot C, Lendon C, Craddock N, Shears S, Morris JC, Goate A. Protection against Alzheimer's disease with apoE epsilon 2 [letter]. Lancet 1994;343:1432-3.
126. West HL, Rebeck GW, Hyman BT. Frequency of the apolipoprotein E epsilon 2 allele is diminished in sporadic Alzheimer disease. Neurosci Lett 1994;175:46-8.
127. Sorbi S, Nacmias B, Forleo P, Latorraca S, Gobbini I, Bracco L, et al. ApoE allele frequencies in Italian sporadic and familial Alzheimer's disease. Neurosci Lett 1994;177:100-2.
128. van Duijn CM, de Knijff P, Wehnert A, De Voecht J, Bronzova JB, Havekes LM, et al. The apolipoprotein E ε2 allele is associated with an increased risk of early-onset Alzheimer's disease and a reduced survival. Ann Neurol 1995;37:605-10.
129. Houlden H, Crook R, Hardy J, Roques P, Collinge J, Rossor M. Confirmation that familial clustering and age of onset in late onset Alzheimer's disease are determined at the apolipoprotein E locus. Neurosci Lett 1994;174:222-4.
130. Lucotte G, Turpin JC, Landais P. Apolipoprotein E-epsilon 4 allele doses in late-onset Alzheimer's disease. Ann Neurol 1994;36:681-2.
131. Yoshizawa T, Yamakawa-Kobayashi K, Komatsuzaki Y, Arinami T, Oguni E, Mizusawa H, et al. Dose-dependent association of apolipoprotein E allele epsilon 4 with late-onset, sporadic Alzheimer's disease. Ann Neurol 1994;36:656-9.
132. Borgaonkar DS, Schmidt LC, Martin SE, Kanzer MD, Edelsohn L, Growdon J, et al. Linkage of late-onset Alzheimer's disease with apolipoprotein E type 4 on chromosome 19 [letter]. Lancet 1993; 342:625.
133. Lannfelt L, Lilius L, Nastase M, Viitanen M, Fratiglioni L, Eggertsen G, et al. Lack of association between apolipoprotein E allele ε and sporadic Alzheimer's disease. Neurosci Lett 1994;169:175-8.
134. Basun H, Grut M, Winblad B, Lannfelt L. Apolipoprotein e allele and disease progression in patients with late-onset Alzheimer's disease. Neurosci Lett 1995;183:32-4.
135. Hendrie HC, Hall KS, Hui S, Unverzagt FW, Yu CE, Lahiri DK, et al. Apolipoprotein E genotypes and Alzheimer's disease in a community study of elderly African Americans. Ann Neurol 1995;37: 118-20.
136. Osuntokun BO, Sahota A, Ogunniyi AO, Gureje O, Baiyewu O, Adeyinka A, et al. Lack of an association between apolipoprotein E epsilon 4 and Alzheimer's disease in elderly Nigerians. Ann Neurol 1995;38:463-5.
137. Rebeck GW, Peris TT, West HL, Sodhi P, Lipsitz LA, Hyman BT. Reduced apolipoprotein epsilon 4 allele frequency in the oldest old Alzheimer's patients and cognitively normal individuals. Neurology 1994;44:1513-6.
138. Sobel E, Louhija J, Sulkava R, Davanipour Z, Kontula K, Miettinen H, et al. Lack of association of apolipoprotein E allele ε4 with late-onset Alzheimer disease among Finnish centenarians. Neurology 1995;45:903-7.
139. Benjamin R, Leake A, McArthur FK, Candy JM, Ince PG, Edwardson JA, et al. Apolipoprotein E genotype and Alzheimer's disease in an elderly Norwegian cohort. Neurodegeneration 1996;5: 43-7.
140. Corder EH, Basun H, Lannfelt L, Vitanen M, Winblad B. Attenuation of apolipoprotein E ε4 allele gene dose in late age [letter]. Lancet 1996;347:542.
141. Schächter F, Faure-Delanef L, Guénot F, Rouger H, Froguel P, Lesueur-Ginot L, et al. Genetic associations with human longevity at the APOE and ACE loci. Nat Genet 1994;6:29-32.
142. Cauley JA, Eichner JE, Kamboh MI, Ferrell RE, Kuller LH. APOE allele frequencies in younger (age 42-50) versus older (age 65-90) women. Gen Epidemiol 1993;10:27-34.
143. Eggertsen G, Tegelman R, Ericsson S, Angelin B, Berglund L. Apolipoprotein E polymorphism in a healthy Swedish population: Variation of allele frequency with age and relation to serum lipid concentration. Clin Chem 1993;39:2125-9.
144. Yu CE, Payami H, Olson JM, Boehnke M, Wijsman EM, Orr HT, et al. The apolipoprotein E/CI/CII gene cluster and late-onset Alzheimer disease. Am J Hum Genet 1994;54:631-42.
145. Poduslo SE, Neal M, Schwankhaus J. A closely linked gene to apolipoprotein E may serve as an additional risk factor for Alzheimer's disease. Neurosci Lett 1995;201:81-3.
146. Houlden J, Crook R, Duff K, Hutton M, Collinge J, Roques P, et al. Apolipoprotein E alleles but neither apolipoprotein B nor apolipoprotein AI/CIII alleles are associated with late onset, familial Alzheimer's disease. Neurosci Lett 1995;188:202-4.
147. Tsuda T, Lopez R, Rogaeva EA, Freedman M, Rogaev E, Drachman D, et al. Are the associations between Alzheimer's disease and polymorphisms in the apolipoprotein E and the apolipoprotein CII genes due to linkage disequilibrium? Ann Neurol 1994;36:97-100.
148. Chartier-Harlin MC, Parfitt M, Legrain S, Perez-Tur J, Brousseau T, Evans A, 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 19q13.2 chromosomal region. Hum Mol Genet 1994;3:569-74.
149. Zhou Z, Smith JD, Greengard P, Gandy S. Alzheimer amyloid-β peptide forms denarurant-resistant complex with type ε3 but not type ε4 isoform of native apolipoprotein E. Mol Med 1996;2:175-80.
150. Strittmatter WJ, Saunders AM, Goedert M, Weisgraber KH, Dong LM, Jakes R, et al. Isoform-specific interactions of apolipoprotein E with microtubule-associated protein tau: Implications for Alzheimer disease. Proc Nad Acad Sci USA 1994;91:11183-6.
151. Poirier J. Apolipoprotein E in animal models of CNS injury and in Alzheimer's disease. Trends Neurosci 1994;17:525-30.
152. Poirier J, Delisle M-C, Quirion R, Aubert I, Farlow M, Lahiri D, et al. Apolipoprotein ε4 allele as a predictor of cholinergic deficits and treatment outcome in Alzheimer disease. Proc Natl Acad Sci USA 1995;92:12260-4.
153. Rebeck GW, Reiter JS, Strickland DK, Hyman BT. Apolipoprotein E in sporadic Alzheimer's disease: Allelic variation and receptor interactions. Neuron 1993;11:575-80.
154. Arai H, Muramatsu T, Higuchi S, Sasaki H, Trojanowski JQ. Apolipoprotein E gene in Parkinson's disease with or without dementia [letter]. Lancet 1994;344:889.
155. Benjamin R, Leake A, Edwardson JA, McKeith IG, Ince PG, Perry RH, et al. Apolipoprotein E genes in Lewy body and Parkinson's disease [letter]. Lancet 1994;343:1565.
156. Harrington CR, Louwagie J, Rossau R, Vanmechelen E, Perry RH, Perry EK, et al. Influence of apolipoprotein E genotype on senile dementia of the Alzheimer and Lewy body types. Significance for etiological theories of Alzheimer's disease. Am J Pathol 1994; 145:1472-84.
157. Marder K, Maestre G, Cote L, Mejia H, Alfaro B, Halim A, et al. The apolipoprotein epsilon 4 allele in Parkinson's disease with and without dementia. Neurology 1994;44:1330-1.
158. Koller WC, Glatt SL, Hubble JP, Paolo A, Troster AI, Handler MS, et al. Apolipoprotein E genotypes in Parkinson's disease with and without dementia. Ann Neurol 11995;37:242-5.
159. Poduslo SE, Riggs D, Rolan T, Schwankhaus J. Apolipoprotein E and B alleles in Parkinsons's patients. Neurosci Lett 11995;194:145-7.
160. Tabaton M, Rollen M, Masturzo P, Cammarata S, Angelini G, Hansen LA, et al. Apolipoprotein E ε4 allele frequency is not increased in progressive supranuclear palsy. Neurology 1995;45:1764-5.
161. Gomez-Isla T, West HL, Rebeck GW, Harr SD, Growdon JH, Locascio JJ, et al. Clinical and pathological correlates of apolipoprotein E ε4 in Alzheimer's disease. Ann Neurol 1996;39:62-70.
162. Anouti A, Schmidt K, Lyons KE, Hubble JP, Schellenberg G, Golbe LI, et al. Normal distribution of apolipoprotein E alleles in progressive supranuclear palsy. Neurology 1996;46:1156-7.
163. Amouyel P, Vidal O, Launay JM, Laplanche JL. The apolipoprotein E alleles as major susceptibility factors for Creutzfeldt-Jakob disease. The French Research Group on Epidemiology of Human Spongiform Encephalopathies. Lancet 1994;344:1315-8.
164. Roses AD, Saunders AM, Strittmatter WJ, Schmechel DE, Pericak-Vance MA, Hyman B. Apolipoprotein E in Cruetzfeldt-Jakob disease [letter]. Lancet 1995;345:69.
165. Saunders AM, Schmader K, Breitner JCS, Benson MD, Brown WT, Goldfarb L, et al. Apolipoprotein E ε4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases [letter]. Lancet 1993;342:710-1.
166. Nakagawa Y, Kitamoto T, Furukawa H, Ogomori K, Tateishi J. Apolipoprotein E in Cruetzfeldt-Jakob disease [letter]. Lancet 1995; 345:68.
167. Zerr I, Helmhold M, Weber T. Apolipoprotein E in Cruetzfeldt-Jakob disease [letter]. Lancet 1995;345:68-9.
168. Dranovsky A, Goldfarb L, Gajdusek DC, Goldgaber D. Apolipoprotein E ε4 allele does not correlate with amyloid plaques in transmissible spongeiform encephalopathies. Amyloid 1996;2:36-8.
169. Shimano H, Murase T, Ishibashi S. Plasma apolipoproteins in patients with multi-infarct dementia. Atherosclerosis 1989;79:257-60.
170. Betard C, Robitaille Y, Gee M, Tiberghien D, Larrivee D, Roy P, et al. Apo E allele frequencies in Alzheimer's disease, Lewy body dementia, Alzheimer's disease with cerebrovascular disease and vascular dementia. Neuroreport 1994;5:1893-6.
171. Frisoni GB, Calabresi L, Geroldi C, Bianchetti A, D'Acquarica AL, Govoni S, et al. Apolipoprotein E epsilon 4 allele in Alzheimer's disease and vascular dementia. Dementia 1994;5:240-2.
172. Kawamata J, Tanaka S, Shimohama S, Ueda K, Kimura J. Apolipoprotein E polymorphism in Japanese patients with Alzheimer's disease or vascular dementia. J Neurol Neurosurg Psychiatry 1994:57: 1414-6.
173. Stengard JH, Pekkanen J, Sulkava R, Ehnholm C, Erkinjuntti T, Nissinen A. Apolipoprotein E polymorphism, Alzheimer's disease and vascular dementia among elderly Finnish men. Acta Neurol Scand 1995;92:297-8.
174. Isoe K, Urakami K, Sato K, Takahashi K. Apolipoprotein E in patients with dementia of the Alzheimer type and vascular dementia. Acta Neurol Scand 1996;93:133-7.
175. Arai H, Higuchi S, Muramatsu T, Iwatsubo T, Sasaki H, Trojanowski JQ. Apolipoprotein E gene in diffuse Lewy body disease with or without co-existing Alzheimer's disease [letter]. Lancet 1994;344:1307.
176. Hardy J, Crook R, Prihar G, Roberts G, Raghavan R, Perry R. Senile dementia of the Lewy body type has an apolipoprotein E epsilon 4 allele frequency intermediate between controls and Alzheimer's disease. Neurosci Lett 1994;182:1-2.
177. Galasko D, Saitoh T, Xia Y, Thai LJ, Katzman R, Hill LR, et al. The apolipoprotein E allele epsilon 4 is overrepresented in patients with the Lewy body variant of Alzheimer's disease. Neurology 1994;44:1950-1.
178. Pickering-Brown SM, Mann DM, Bourke JP, Roberts DA, Balderson D, Bums A, et al. Apolipoprotein ε4 and Alzheimer's disease pathology in Lewy body disease and in other beta-amyloid-forming diseases [letter]. Lancet 1994;343:1155.
179. St Clair D, Norrman J, Perry R, Yates C, Wilcock G, Brookes A. Apolipoprotein E epsilon 4 allele frequency in patients with Lewy body dementia, Alzheimer's disease and age-matched controls. Neurosci Lett 1994;176:45-6.
180. Lippa CF, Smith TW, Saunders AM, Crook R, Pulaski-Salo D, Davies P, et al. Apolipoprotein E genotype and Lewy body disease. Neurology 1995;45:97-103.
181. Kawanishi C, Suzuki K, Odawara T, Iseki E, Onishi H, Miyakawa T, et al. Neuropathological evaluation and apolipoprotein E gene polymorphism analysis in diffuse Lewy body disease. J Neurol Sci 1996;136:140-2.
182. Hardy J, Crook R, Perr R, Raghavan R, Roberts G. ApoE genotype and Down's syndrome [letter]. Lancet 1994;343:979-80.
183. Martins RN, Clarnette R, Fisher C, Broe GA, Brooks WS, Montgomery P, et al. ApoE genotypes in Australia: Roles in early and late onset Alzheimer's disease and Down's syndrome. Neuroreport 1995;6:1513-6.
184. van Gool WA, Evenhuis HM, van Duijn CM. A case-control study of apolipoprotein E genotypes in Alzheimer's disease associated with Down's syndrome. Ann Neurol 1995;38:225-30.
185. Neary D, Pickering-Brown S, Roberts D, Owen P. Apolipoprotein ε4 alleles and non-Alzheimer's disease forms of dementia. Neurodegeneration 1993;2:300-1.
186. Schneider JA, Gearing M, Robbins R, de l'Aune W, Mirra S. Apolipoprotein E genotype in diverse neurodegenerative disorders. Ann Neurol 1995;38:131-5.
187. Pickering Brown SM, Siddons M, Mann DMA, Owen F, Neary D, Snowden JS. Apolipoprotein E allelic frequencies in patients with lobar atrophy. Neurosci Lett 1995;188:205-7.
188. Stevens M, van Duijn CM, de Knijff P, van Broeckhoven C, Heutink P, Oostra DA, et al. Apolipoprotein E gene and sporadic frontal lobe dementia. Neurology. In press.
189. Sekijima Y, Ikeda S, Tokuda T, Satoh S, Yanagisawa N, Hidaka H. Alzheimer-type dementia and apolipoprotein E phenotypes in Japanese patients with Down's syndrome [abstract]. Neurobiol Aging 1996;17(Suppl):S124.
190. Hyman BT, West HL, Rebeck GW, Lai F, Mann DM. Neuropathological changes in Down's syndrome hippocampal formation. Effect of age and apolipoprotein E genotype. Arch Neurol 1995;52:373-8.
191. Wisniewski T, Morelli L, Wegiel J, Levy E, Wisniewski HM, Frangione B. The influence of apolipoprotein E isotypes on Alzheimer's disease pathology in 40 cases of Down's syndrome. Ann Neurol 1995;37:136-8.
192. Royston MC, Mann D, Pickering-Brown S, Owen F, Perry R, Raghavan R, et al. Apolipoprotein E epsilon 2 allele promotes longevity and protects patients with Down's syndrome from dementia. Neuroreport 1994;5:2583-5.
193. Abraham CR, Selkoe DJ, Potter H. Immunochemical identification of the serine protease inhibitor alpha 1-antichymotrypsin in the brain amyloid deposits of Alzheimer's. Cell 1988;52:487-501.
194. Abraham CR, Shirahama T, Potter H. Alpha 1-antichymotrypsin is associated solely with amyloid deposits containing the beta-protein. Neurobiol Aging 1990;11:123-9.
195. Kamboh MI, Sanghera DK, Ferrell RE, DeKosky ST. APOE4-associated Alzheimer's disease risk is modified by alpha1-antichymotrypsin polymorphism. Nat Genet 1995;10:486-8.
196. Yoshiiwa A, Kamino K, Nishiwaka Y, Yamamoto H, Kobayashi T, Miki T, et al. α1-antichymotrypsin gene as an independent risk for late-onset Alzheimer's disease [abstract]. Neurobiol Aging 1996; 17(Suppl):S60.
197. Ueki A, Otsuka M, Ikeda K. α1-antichymotrypsin genotypes modulate the risk of Alzheimer's disease associated with apolipoprotein E-ε4 allele [abstract]. Neurobiol Aging 1996;17(Suppl):S126.
198. Haines JL, Pritchard ML, Saunders AM, Schildkraut JM, Growdon JH, Gaskell PC, et al. No genetic effect of α1-antichymotrpysin in Alzheimer disease. Genomics 1996;33:53-6.
199. Nacmias B, Tedde A, Latorraca S, Forleo P, Piacentini S, Sorbi S, Amaducci L. Apolipoprotein E and α1-antichymotrypsin polymorphism in Italian Alzheimer's disease [abstract]. Neurobiol Aging 1996;17(Suppl):S58.
200. Lilius L, Corder E, Basun H, Viitanen M, Winblad B, Lannfelt L. α1-antichymotrypsin is not a susceptibility gene for Alzheimer's disease in old Swedes [abstract]. Neurobiol Aging 1996;17(Suppl):S59-S60.
201. Bergam ALM, Lannfelt L. Apolipoprotein E and the interaction with α1-antichymotrypsin as risk factors in Alzheimer's disease and vascular dementia. Findings from a twin study [abstract]. Neurobiol Aging 1996;17(Suppl):S61.
202. Talbot C, Houlden H, Craddock N, Crook R, Hutton M, Lendon C, et al. Polymorphism in AACT gene may lower age of onset of Alzheimer's disease. Neuroreport 1996;7:534-6.
203. Okuizumi K, Onodera O, Namba Y, Ikeda K, Yamamoto T, Seki K, et al. Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease. Nat Genet 1995;11:207-9.
204. Pritchard ML, Saunders AM, Gaskell PC, Small GW, Conneally PM, Rosi B, et al. No association between very low density lipoprotein receptor (VLDL-R) and Alzheimer disease in American Caucasians. Neurosci Lett 1996;209:105-8.
205. Wragg M, Hutton M, Talbot C, Alzheimer's Disease Collaborative Group. Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Lancet 1996;347: 509-12.
206. Kehoe P, Williams J, Lovestone S, Wilcock G, Owen MJ, United Kingdom Alzheimer's Disease Collaborative Group. Presenilin-1 polymorphism and Alzheimer's disease [letter]. Lancet 1996;347: 1185.
207. Higuchi S, Muramatsu T, Matsushita S, Arai H, Sasaki H. Presenilin-1 polymorphism and Alzheimer's disease [letter]. Lancet 1996; 347:1186.
208. Scott WK, Yamaoka LH, Locke PA, Rosi DL, Gaskell PC, Saunders AM, et al. No association or linkage between an intronic polymorphism of presenilin-1 and sporadic or late-onset familial Alzheimer disease. Genet Epidemiol. In press.
209. Nishiwaka Y, Kamino K, Yoshiiwa A, Miki T, Ogihara T. Possible association between presenilin-1 locus and late-onset sporadic Alzheimer disease [abstract]. Neurobiol Aging 1996;17(Suppl):S14.
210. Lendon C, Talbot C, Craddock N, Wragg M, Han S, Morris J, et al. Association studies between late-onset Alzheimer's disease and the genes encoding the brain receptors for ApoE in a Caucasian population [abstract]. Neurobiol Aging 1996;17(Suppl):S123.
211. Mayeux R, Ottman R, Maestre G, Ngai C, Tang MX, Ginsberg H, et al. Synergistic effects of traumatic head injury and apolipoprotein-epsilon 4 in patients with Alzheimer's disease. Neurology 1995; 45:555-7.
212. Katzman R, Galasko DR, Saitoh T, Chen X, Pay MM, Booth A, et al. Apolipoprotein-ε4 and head trauma: Synergistic or additive risks? Neurology 1996;46:889-91.
213. van Duijn CM, Havekes LM, Van Broeckhoven C, de Knijff P, Hofman A. Apolipoprotein E genotype and association between smoking and early onset Alzheimer's disease. Br Med J 1995;310: 627-31.
214. Jarvik GP, Wijsman EM, Kukull WA, Schellenberg GD, Yu C, Larson EB. Interactions of apolipoprotein E genotype, total cholesterol level, age, and sex in prediction of Alzheimer's disease: A case-control study. Neurology 1995;45:1092-6.
215. Van Duijn CM, Meijer H, Witteman JCM, Havekes LM, de Knijff P, Van Broeckhoven C, et al. Estrogen apolipoprotein E and the risk of Alzheimer's disease [abstract]. Neurobiol Aging 1996; 17(Suppl):S79.
216. Plassman BL, Helms MJ, Welsh KA, Saunders AM, Breitner JC. Smoking, Alzheimer's disease, and confounding with genes [letter]. Lancet 1995;345:387.
217. Roberts GW, Gentleman SM, Lynch A, Murray L, Landon M, Graham DI. Beta amyloid protein deposition in the brain after severe head injury: Implications for the pathogenesis of Alzheimer's disease. J Neurol Neurosurg Psychiatry 1994;57:419-25.
218. Nicoll JAR, Roberts GW, Graham DI. Apolipoprotein E 4 allele is associated with deposition of amyloid beta-protein following head injury. Nat Med 1995;1:135-48.
219. Hardy J, Houlden H, Collinge J, Kennedy A, Newman S, Rossor M, et al. Apolipoprotein E genotype and Alzheimer's disease [letter]. Lancet 1993;342:737-8.
220. St. George-Hyslop P, Crapper McLachlan D, Tsuda T, Rogaev E. Alzheimer's disease and possible gene interaction [letter]. Science 1994;263:537.
221. Sorbi S, Nacmias B, Forleo P, Piacentini S, Latorraca S, Amaduci L. Epistatic effect of APP717 mutation and apolipoprotein E genotype in familial Alzheimer's disease. Ann Neurol 1995;38:124-7.
222. Nacmias B, Latorraca S, Piersanti P, Forleo P, Piacentini S, Bracco L, et al. ApoE genotype and familial Alzheimer's disease: A possible influence on age of onset in APP717 Val-Ile mutated families. Neurosci Lett 1995;183:1-3.
223. Van Broeckhoven C, Backhovens H, Cruts M, Martin JJ, Crook R, Houlden H, et al. APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease. Neurosci Lett 1994;169:179-80.
224. Levy-Lahad E, Lahad A, Wijsman EM, Bird TD, Schellenberg GD. Apolipoprotein E genotypes and age at onset in early-onset familial Alzheimer's disease. Ann Neurol 1995;38:678-80.
225. Haan J, Van Broeckhoven C, van Duijn CM, Voorhoeve E, van Harskamp F, van Swieten JC, et al. The apolipoprotein E epsilon 4 allele does not influence the clinical expression of the amyloid precursor protein gene codon 693 or 692 mutations. Ann Neurol 1994;36:434-7.
226. Farrer LA, Cupples LA, van Duijn CM, Kurz A, Zimmer R, Muller U, et al. Apolipoprotein E genotype in patients with Alzheimer disease: Implications for the risk of dementia among relatives. Ann Neurol 1995;38:797-808.
227. Rao VS, Cupples LA, van Duijn CM, Kurz A, Green RC, Chui H, et al. Evidence for major gene inheritance of Alzheimer disease in families of patients with and without APOE ε4. Am J Hum Genet 1996;59:664-75.
228. Payami H, Montee KR, Kaye JA, Bird TD, Yu CE, Wijsman EM, et al. Alzheimer's disease, apolipoprotein ε4, and gender. JAMA 1994;271:1316-7.
229. Payami H, Zareparsi S, Montee KR, Sexton GJ, Kaye JA, Bird TD, 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.
230. Duara R, Barker WW, Lopez-Alberola R, Lowenstein DA, Grau LB, Gilchrist D, et al. Alzheimer's disease: interaction of apolipoprotein E genotype, family history of dementia, gender, education, ethnicity and age of onset. Neurology 1996;46:1575-9.
231. Paganini-Hill A, Henderson VW. Estrogen deficiency and risk of Alzheimer's disease in women. Am J Epidemiol 1994;140:256-61.
232. Tang M-X, Jacobs D, Stern Y, Marder K, Schofield P, Gurland B, et al. Effect of oestrogen during menopause on risk and age at onset of Alzheimer's disease. Lancet 1996;348:429-32.
233. Sherrington R, Froelich S, Sorbi S, Campion D, Chi H, Rogaeva EA, et al. Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant. Hum Mol Genet 1996;5:985-8.
234. Lampe TH, Bird TD, Nochlin D, Nemens E, Risse SC, Sumi SM, et al. Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred. Ann Neurol 1994;36:368-78.
235. Haltia M, Viitanen M, Sulkava R, Ala-Hurulu V, Poyhonen M, Goldfarb L, et al. Chromosome 14-encoded Alzheimer's disease: Genetic and clinicopathological description. Ann Neurol 1994;36: 362-7.
236. Farlow M, Murrell J, Ghetti B. Clinical characteristics in a kindred with early-onset Alzheimer's disease and their linkage to a G-T change at position 2149 of the amyloid precursor protein gene. Neurology 1994;44:105-11.
237. Mullan M, Tsuji S, Miki T, Katsuya S, Naruse K, Kaneko K, 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;14:407-19.
238. Bronzova J, van Duijn CM, Havekes LM, de Knijff P, Van Broeckhoven C, Hofman A. Apolipoprotein E genotype and concomitant clinical features in early-onset Alzheimer's disease. J Neurol 1996;243:465-8.
239. Lehtovirta M, Soininen H, Helisalmi S, Mannermaa A, Helkala E-L, Hartikainen P, et al. Clinical and neuropsychological characteristics in familial and sporadic Alzheimer's disease: Relation to apolipoprotein E polymorphism. Neurology 1996;46:413-9.
240. Farrer LA, Cupples LA, van Duijn CM, Connor-Lacke L, Kiely DK, Growdon JH. Rate of progression of Alzheimer disease is associated with genetic risk. Arch Neurol 1995;52:918-23.
241. Dal Fomo G, Rasmusson DX, Brandt J, Carson KA, Brookmeyer R, Toncoso J, et al. Apolipoprotein E genotype and rate of decline in probable Alzheimer's disease. Arch Neurol 1996;53:345-50.
242. Growdon JH, Locascio JJ, Corkin S, Gomez-Isla T, Hyman BT. Apolipoprotein E genotype does not influence rates of cognitive decline in Alzheimer's disease. Neurology 1996;47:444-8.
243. Sarochan M, Forstl H, Sattel H, Zerfass R, Czech C, Beyreuther K. Apolipoprotein E genotype does not promote the clinical progression of manifest Alzheimer's disease. Dementia 1996;7:120.
244. Bennett C, Crawford F, Osborne A, Diaz P, Hoyne J, Lopez R, et al. Evidence that the APOE locus influences rate of disease progression in late onset familial Alzhemer's disease but is not causative. Am J Med Genet 1995;60:1-6.
245. Frisoni GB, Govoni S, Geroldi C, Bianchetti A, Calabresi L, Franceschini G, et al. Gene dose of the ε4 allele of apolipoprotein E and disease progression in sporadic late-onset Alzheimer's disease. Ann Neurol 1995;37:596-604.
246. Small GW, Mazziotta JC, Collins MT, Baxter LR, Phelps ME, Mandelkern MA, et al. Apolipoprotein E type 4 allele and cerebral glucose metabolism in relatives at risk for familial Alzheimer disease. JAMA 1995;273:942-7.
247. Reiman EM, Caselli RJ, Yun L, Si RJ, Chen K, Bandy D, et al. Preclinical evidence of Alzheimer's disease in persons homozygous for the ε4 allele for apolipoprotein E. N Engl J Med 1996;334:752-8.
248. Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC Jr, Rimmler JB, et al. Apolipoprotein E, survival in Alzheimer's disease patients, and the competing risks of death and Alzheimer's disease. Neurology 1995;45:1323-8.
249. Roses AD. Apolipoprotein E genotyping in the differential diagnosis, not prediction, of Alzheimer's disease. Ann Neurol 1995;38:6-14.
250. van Gool WA, Hijdra A. Diagnosis of Alzheimer's disease by apolipoprotein E genotyping [letter]. Lancet 1994;344:275.
251. Farrer LA, Brin MF, Elsas L, Goate A, Kennedy J, Mayeux R, et al. Statement on use of apolipoprotein E testing for Alzheimer disease. JAMA 1995;274:1627-8.
252. Mayeux R, Schupf N. Apolipoprotein E and Alzheimer's disease: The implications of progress in molecular medicine. Am J Public Health 1995;85:1280-4.
253. Bird T. Apolipoprotein E genotyping in the diagnosis of Alzheimer's disease: A cautionary view. Ann Neurol 1995;38:2-4.
254. Roses AD, Strittmatter WJ, Pericak-Vance MA, Corder EH, Saunders AM, Schmechel DE. Clinical application of apolipoprotein E genotyping to Alzheimer's disease [letter]. Lancet 1994;343:1564-5.
255. Lovestone S, United Kingdom Alzheimer's Disease Genetics Consortium. The genetics of Alzheimer's disease: New opportunities and new challenges. Int J Geriatr Psychiatry 1995;10:1-7.
256. Brodaty H. Consensus statement on predictive testing for Alzheimer Disease. Alzheimer Dis Assoc Disord 1995;9:182-7.
257. Alzheimer's Disease and Related Disorders Association. Caution urged with Alzheimer gene testing [statement]. Chicago: Author, 1995.
258. Alzheimer Society of Canada. Predictive testing and Alzheimer disease. Toronto: Author, 1995.
259. Relkin NR, National Institute on Aging/Alzheimer Association Working Group. Apolipoprotein E genotyping in ALzheimer's disease: Consensus statement. Lancet 1996;347:1091-5.
260. Deleted in proof.
261. Breitner JCS. APOE genotyping and Alzheimer's disease [letter]. Lancet 1996;347:1184-5.
262. The APOE and Alzheimer Disease Meta-Analysis Consortium. Pooled analysis of apolipoprotein E genotype in Alzheimer disease and other dementias: Implications for clinical testing [abstract]. Neurobiol Aging 1996;17(Suppl):S80.
263. van Gool WA. The use of apolipoprotein E genotyping as a diagnostic test in suspected Alzheimer's disease. Ann N Y Acad Sci. In press.
264. Petersen RC, Smith GE, Ivnik RJ, Tangalos EG, Schaid DJ, Thibodeau SN, et al. Apolipoprotein E status as a predictor of the development of Alzheimer's disease in memory-impaired individuals. JAMA 1995;273:1274-8.
265. Tierney MC, Szalai JP, Snow WG, Fisher RH, Tsuda T, Chi H, et al. A prospective study of the clinical utility of ApoE genotype in the prediction of outcome in patients with memory impairment. Neurology 1996;46:149-54.
266. Baron JA. The clinical utility of risk factor data. J Clin Epidemiol 1989;42:1013-20.
267. Saunders AM, Hulette C, Welsh-Bohmer KA, Schmechel DE, Crain B, Burke JR, et al. Specificity, sensitivity and predictive value of apolipoprotein-E genotyping for sporadic Alzheimer's disease. Lancet 1996;348:90-3.
268. Kakulas BA, Wilston SD, Fabian VA, Jones TM. Apolipoprotein-E genotyping in diagnosis of Alzheimer's disease [letter]. Lancet 1996; 348:483.
269. Smith AD, Jobst KA, Johnston C, Joachim C, Nagy Z. Apolipoprotein-E genotyping in diagnosis of Alzheimer's disease [letter]. Lancet 1996;348:483-4.
270. Deleted in proof.
271. Meissen GJ, Myers RH, Mastromauro CA, Koroshetz W, Klinger K, Farrer LA, et al. Predictive testing in Huntington's disease using a linked DNA marker. N Engl J Med 1988;318:535-42.
272. Karlinsky H, Sadovnick AD, Burgess MM, Langlois S, Hayden MR, Berg JM. Issues in molecular genetic testing of individuals with suspected early-onset familial Alzheimer's disease. Alzheimer Dis Assoc Disord 1994;8:116-25.
273. Lannfelt L, Axelman K, Lilius L, Basun H. Genetic counseling of a Swedish Alzheimer family with amyloid precursor protein mutation [letter]. Am J Hum Genet 1995;56:332-5.
274. Lennox A, Karlinsky H, Meschino W, Buchanan JA, Percy ME, Berg JM. Molecular genetic predictive testing for Alzheimer's disease: deliberations and preliminary recommendations. Alzheimer Dis Assoc Disord 1994;8:126-47.
275. Rohde K, Peskind ER, Raskind MA. Suicide in two patients with Alzheimer's disease. J Am Geriatr Soc 1995;43:187-9.
276. McGuffin P, Sargeant M, Weppner G. The genetics of Alzheimer's disease and the ethical implications for prevention. In: Sam RJ, Bulyzhenkov V, Prilipko L, Christen Y, editors. Ethical issues of molecular genetics in psychiatry. New York: Springer-Verlag, 1991; 42-56.
277. Burgess MM. Ethical issues in genetic testing for Alzheimer's disease: Lessons from Huntington's disease. Alzheimer Dis Assoc Disord 1994;8:71-78.
278. Post SG. Genetics, ethics, and Alzheimer disease. J Am Geriatr Soc 1994;42:782-6.
279. Annas GJ. Privacy rules for DNA databanks. JAMA 1993;270:2346-50.
280. CLIA, Public law 100-572.
281. Andrews LB, Jaeger AS. Confidentiality of genetic information in the workplace. Am J Law Med 1991;17:75-107.
282. Andrews LB. Legal aspects of genetic information. Yale J Biol Med 1991;64:29-40.