Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer's disease

New England Journal of Medicine

Volumn 338, Issue 8, 1998, Pages 506-511

  Mayeux, Richard ^a,b   Saunders, Ann M ^c   Shea, Steven ^b   Mirra, Suzanne ^d   Evans, Denis ^e   Roses, Allen D ^c   Hyman, Bradley T ^f   Crain, Barbara ^g   Tang, Ming Xin ^a,b   Phelps, Creighton H ^h  

^a Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H Sergievsky Center   (United States)

^b Medical Center ^*  (United States)

^c DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d EMORY UNIVERSITY   (United States)

^e RUSH UNIVERSITY MEDICAL CENTER   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E;

AGED; ALLELE; ALZHEIMER DISEASE; ARTICLE; AUTOPSY; CALCULATION; CLINICAL FEATURE; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; GENE EXPRESSION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MULTIVARIATE ANALYSIS; PRIORITY JOURNAL; STATISTICAL ANALYSIS;

AGED; ALZHEIMER DISEASE; APOLIPOPROTEINS E; FALSE POSITIVE REACTIONS; FEMALE; GENOTYPE; HUMANS; MALE; ROC CURVE; SENSITIVITY AND SPECIFICITY;

EID: 0032545939     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199802193380804     Document Type: Article

References (43)

1. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984;34: 939-44.
2. Kukull WA, Larson EB, Reifler BV, Lampe TH, Yerby M, Hughes J. Interrater reliability of Alzheimer's disease diagnosis. Neurology 1990;40: 257-60.
3. Lopez OL, Swihart AA, Becker JT, et al. Reliability of NINCDS-ADRDA clinical criteria for the diagnosis of Alzheimer's disease. Neurology 1990;40:1517-22.
4. Schofield PW, Tang M-X, Marder K, et al. Consistency of clinical diagnosis in a community-based longitudinal study of dementia and Alzheimer's disease. Neurology 1995;45:2159-64.
5. Morris JC, McKeel DW Jr, Fulling K, Torack RM, Berg L. Validation of clinical diagnostic criteria for Alzheimer's disease. Ann Neurol 1988;24:17-22.
6. Burns A, Luthert P, Levy R, Jacoby R, Lantos P. Accuracy of clinical diagnosis of Alzheimer's disease. BMJ 1990;301:1026.
7. Wade JPH, Mirsen TR, Hachinski VC, Fisman M, Lau C, Merskey K. The clinical diagnosis of Alzheimer's disease. Arch Neurol 1987;44:24-9.
8. Risse SC, Raskind MA, Nochlin D, et al. Neuropathological findings in patients with clinical diagnoses of probable Alzheimer's disease. Am J Psychiatry 1990;147:168-72.
9. Saunders AM, Strittmatter WJ, Schmechel D, et al. Association of apolipoprotein E allele ∈4 with late-onset familial and sporadic Alzheimer's disease. Neurology 1993;43:1467-72.
10. Poirier J, Davignon J, Bouthillier D, Kogan S, Bertrand P, Gauthier S. Apolipoprotein E polymorphism and Alzheimer's disease. Lancet 1993; 342:697-9.
11. Mayeux R, Stern Y, Ottman R, et al. The apolipoprotein ∈4 allele in patients with Alzheimer's disease. Ann Neurol 1993;34:752-4.
12. Saunders AM, Hulette C, Welsh-Bohmer KA, et al. Specificity, sensitivity, and predictive value of apolipoprotein-E genotyping for sporadic Alzheimer's disease. Lancet 1996;348:90-3.
13. Apolipoprotein-E genotyping in diagnosis of Alzheimer's disease. Lancet 1996;348:483-4.
14. Slooter AJC, Breteler MB, Ott A, Van Broeckhoven C, van Duijn CM. APOE genotyping in differential diagnosis of Alzheimer's disease. Lancet 1996;348:334.
15. van Gool WA, Hijdra A. Diagnosis of Alzheimer's disease by apolipoprotein E genotyping. Lancet 1994;344:275.
16. Census of population and housing, 1990: summary tape file 1: technical documentation. Washington, D.C.: Bureau of the Census, 1991.
17. Diagnostic and statistical manual of mental disorders, 3rd ed.: DSM-III. Washington, D.C.: American Psychiatric Association, 1980.
18. Diagnostic and statistical manual of mental disorders, 3rd ed. rev.: DSM-III R. Washington, D.C.: American Psychiatric Association, 1987.
19. Dementia: definition, prevalence, classification, and approach to diagnosis. In: Cummings JL, Benson DF. Dementia: a clinical approach. 2nd ed. Boston: Butterworth-Heinemann, 1992:1-17.
20. Roman GC, Tatemichi TK, Erkinjuntti T, et al. Vascular dementia: diagnostic criteria for research studies: report of the NINDS-AIREN International Workshop. Neurology 1993;43:250-60.
21. Chui HC, Victoroff JI, Margolin D, Jagust W, Shankle R, Katzman R. Criteria for the diagnosis of ischemic vascular dementia proposed by the State of California Alzheimer's Disease Diagnostic and Treatment Centers. Neurology 1992;42:473-80.
22. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992;55:181-4.
23. Mirra SS, Heyman A, McKeel D, et al. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology 1991;41:479-86.
24. Khachaturian ZS. Diagnosis of Alzheimer's disease. Arch Neurol 1985;42:1097-105.
25. Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 1991;31:545-8.
26. De Souza AT, Hankins GR, Washington MK, Fine RL, Orton TC, Jirtle RL. Frequent loss of heterozygosity on 6q at the mannose 6-phosphate/insulin-like growth factor II receptor locus in human hepatocellular tumors. Oncogene 1995;10:1725-9.
27. Hansen L, Salmon D, Galasko D, et al. The Lewy body variant of Alzheimer's disease: a clinical and pathologic entity. Neurology 1990;40:1-8.
28. Dickson DW, Davies P, Mayeux R, et al. Diffuse Lewy body disease: neuropathological and biochemical studies of six patients. Acta Neuropathol (Berl) 1987;75:8-15.
29. Combining evidence from fourfold tables. In: Fleiss JL. Statistical methods for rates and proportions. 2nd ed. New York: John Wiley, 1981: 160-87.
30. Assessing the validity and reliability of diagnostic and screening tests. In: Gordis L. Epidemiology. Philadelphia: W.B. Saunders, 1996:58-75.
31. Interpretation of the coefficients of the logistic regression model. In: Hosmer DW Jr, Lemeshow S. Applied logistic regression. New York: John Wiley, 1989:38-81.
32. Halvorsen KT, Burdick E, Colditz GA, Frazier HS, Mosteller F. Combining results from independent investigations: meta-analysis in clinical research. In: Bailar JC III, Mosteller F, eds. Medical uses of statistics. 2nd ed. Boston: NEJM Books, 1992:413-26.
33. Friedenreich CM, Brant RF, Riboli E. Influence of methodologie factors in a pooled analysis of 13 case-control studies of colorectal cancer and dietary fiber. Epidemiology 1994;5:66-79.
34. Fundamentals of accuracy analysis. In: Swets JA, Pickett RM. Evaluation of diagnostic systems: methods from signal detection theory. New York: Academic Press, 1982:15-45.
35. DeLong ER, DeLong DM, Clarke Pearson DL. Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach. Biometrics 1988;44:837-45.
36. Swets JA. Measuring the accuracy of diagnostic systems. Science 1988; 240:1285-93.
37. Maestre G, Ottman R, Stern Y, et al. Apolipoprotein E and Alzheimer's disease: ethnic variation in genotypic risks. Ann Neurol 1995;37: 254-9.
38. Henderson AS, Easteal S, Jorm AF, et al. Apolipoprotein E allele ∈4, dementia, and cognitive decline in a population sample. Lancet 1995;346: 1387-90.
39. Polvikoski T, Sulkava R, Haltia M, et al. Apolipoprotein E, dementia, and cortical deposition of β-amyloid protein. N Engl J Med 1995;333: 1242-7.
40. American College of Medical Genetics/American Society on Human Genetics Working Group on ApoE and Alzheimer Disease. Statement on use of apolipoprotein E testing for Alzheimer disease. JAMA 1995;274: 1627-9.
41. National Institute on Aging/Alzheimer's Association Working Group. Apolipoprotein E genotyping in Alzheimer's disease. Lancet 1996;347: 1091-5.
42. Roses AD. Apolipoprotein E genotyping in the differential diagnosis, not prediction, of Alzheimer's disease. Ann Neurol 1995;38:6-14.
43. 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.