Preclinical evidence of Alzheimer's disease in persons homozygous for the ε4 allele for apolipoprotein E

New England Journal of Medicine

Volumn 334, Issue 12, 1996, Pages 752-758

  Reiman, Eric M ^a,b   Caselli, Richard J ^d   Yun, Lang S ^a,e   Chen, Kewei ^a,c   Bandy, Daniel ^a   Minoshima, Satoshi ^f   Thibodeau, Stephen N ^g   Osborne, David ^d  

^a BANNER GOOD SAMARITAN MEDICAL CENTER   (United States)

^b UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF ARIZONA   (United States)

^d MAYO CLINIC   (United States)

^e AZ 85281   (United States)

^f UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^g MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E4;

ADULT; AGING; ALLELE; ALZHEIMER DISEASE; ARTICLE; BRAIN METABOLISM; CONTROLLED STUDY; EARLY DIAGNOSIS; GENETIC RISK; GENETIC SUSCEPTIBILITY; GLUCOSE METABOLISM; HUMAN; MAJOR CLINICAL STUDY; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL;

AGED; ALLELES; ALZHEIMER DISEASE; APOLIPOPROTEINS E; BRAIN; CASE-CONTROL STUDIES; FEMALE; GENOTYPE; GLUCOSE; HOMOZYGOTE; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; MALE; MIDDLE AGED; NEUROPSYCHOLOGICAL TESTS; TOMOGRAPHY, EMISSION-COMPUTED;

EID: 0029970342     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199603213341202     Document Type: Article

References (50)

1. Strittmatter WJ, Saunders AM, Schmechel D, 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 U S A 1993;90: 1977-81.
2. 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
3. Saunders AM, Strittmatter WJ, Schmechel D, et al. Association of apolipoprotein E allele ε4 with late-onset familial and sporadic Alzheimer's disease Neurology 1993;43:1467-72
4. 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
5. Roses AD, Strittmatter WJ, Pericak-Vance MA, Corder EH, Saunders AM, Schmechel DE Clinical application of apolipoprotein E genotyping to Alzheimer's disease. Lancet 1994;343:1564-5.
6. 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.
7. Roses AD. Alzheimer's disease as a model of molecular gerontology. J NIH Res 1995:7(4):51-7.
8. Mahley RW. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 1988;240:622-30
9. 18Fluorodeoxyglucose positron emission tomography studies in presumed Alzheimer cases, including 13 serial scans. Can J Neurol Sci 1990,17:1-11.
10. Smith GS, de Leon MJ, George AE, et al. Topography of cross-sectional and longitudinal glucose metabolic deficits in Alzheimer's disease: pathophysiologic implications. Arch Neurol 1992;49:1142-50.
11. Mielke R, Herholz K, Grond M, Kessler J, Heiss WD. Clinical deterioration in probable Alzheimer's disease correlates with progressive metabolic impairment of association areas. Dementia 1994;5:36-41
12. Minoshima S, Foster NL, Kuhl DE. Posterior cingulate cortex in Alzheimer's disease. Lancet 1994;344:895.
13. Minoshima S, Frey KA, Koeppe RA, Foster NL, Kuhl DE. A diagnostic approach in Alzheimer's disease using three-dimensional stereotactic surface projections of fluorine-18-FDG PET. J Nucl Med 1995;36:1238-48.
14. Pietrini P, Azari NP, Grady CL, et al. Pattern of cerebral metabolic interactions in a subject with isolated amnesia at risk for Alzheimer's disease: a longitudinal evaluation. Dementia 1993;4:94-101.
15. Small GW, Mazziotta JC, Collins MT, et al. Apolipoprotein E type 4 allele and cerebral glucose metabolism in relatives at risk for familial Alzheimer disease. JAMA 1995;273.942-7.
16. Kennedy AM, Frackowiak RSJ, Newman SK, et al. Deficits in cerebral glucose metabolism demonstrated by positron emission tomography in individuals at risk of familial Alzheimer's disease. Neurosci Lett 1995;186:1720.
17. Grafton ST, Mazziotta JC, Pahl JJ, et al. Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease. Arch Neurol 1992;49:1161-7
18. Caselli RJ, Reiman EM, Timmann D, et al. Progressive apraxia in clinically discordant monozygotic twins. Arch Neurol 1995;52:1004-10.
19. Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 1990;31:545-8.
20. Spitzer RL, Williams JBW, Gibbon M, First MD. User's guide for the structured clinical interview for DSM-III-R (SCID). Washington, D C. American Psychiatric Press, 1990.
21. Folstein MF, Folstein SE, McHugh PR. "Mini-Mental State": a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-98
22. Hamilton M. A rating scale for depression. J Neurol Neurosurg Psychiatry 1960;23:56-62.
23. Lezak MD. Neuropsychological assessment 2nd ed. New York: Oxford University Press, 1983
24. Patlak CS, Blasberg RG, Fenstermacher JD Graphical evaluation of blood-to-brain transfer constants from multiple-time uptake data. J Cereb Blood Flow Metab 1983,3:1-7.
25. Minoshima S, Koeppe RA, Frey KA, Kuhl DE Anatomic standardization: linear scaling and nonlinear warping of functional brain images. J Nucl Med 1994;35:1528-37.
26. Talairach J, Tournoux P Co-planar stereotaxic atlas of the human brain. New York: Thieme Medical, 1988
27. Minoshima S, Frey KA, Foster NL, Kuhl DE. Preserved pontine glucose metabolism in Alzheimer disease. a reference region for functional brain image (PET) analysis. J Comput Assist Tomogr 1995,19:541-7
28. Worsley KJ, Evans AC, Marrett S, Neelin P. A three-dimensional statistical analysis for CBF activation studies in human brain. J Cereb Blood Flow Metab 1992;12.900-18.
29. 18F]fluorodeoxyglucose method J Cereb Blood Flow Metab 1982;2:163-71.
30. Salmon E, Maquet P, Sadzot B, Degueldre C, Lemaire C, Franck G. Decrease of frontal metabolism demonstrated by positron emission tomography in a population of healthy elderly volunteers. Acta Neurol Belg 1991;91:288-95.
31. Loessner A, Alavi A, Lewandrowski KU, Mozley D, Souder E, Gur RE. Regional cerebral function determined by FDG-PET in healthy volunteers: normal patterns and changes with age. J Nucl Med 1995;36:1141-9
32. Coffey CE, Wilkinson WE, Parashos IA. Quantitative cerebral anatomy of the aging human brain: a cross-sectional study using magnetic resonance imaging. Neurology 1992;42:527-36.
33. Terry RD, DeTeresa R, Hansen LA. Neocortical cell counts in normal human adult aging. Ann Neurol 1987;21:530-9.
34. Brun A, Gustafson L. Distribution of cerebral degeneration in Alzheimer's disease: a clinico-pathological study. Arch Psychiatr Nervenkr 1976;223:15-33.
35. Braak H, Braak E Neuropathological staging of Alzheimer-related changes Acta Neuropathol 1991;82.239-59
36. Schwartz WJ, Smith CB, Davidsen L, et al. Metabolic mapping of functional activity in the hypothalamo-neurohypophysial system of the rat Science 1979;205:723-5.
37. Crook T, Bartus RT, Ferris SH, Whitehouse P, Cohen GD, Gershon S. Age-associated memory impairment: proposed diagnostic criteria and measures of clinical change - report of a National Institute of Mental Health work group Dev Neuropsychol 1986;2.261-76.
38. Diagnostic and statistical manual of mental disorders, 4th ed : primary care version DSM-IV-PC. Washington, D.C.: American Psychiatric Association, 1995
39. Riggs JE, Keefover RW. The association between apolipoprotein E allele ε4 and late-onset Alzheimer's disease: pathogenic relationship or differential survival bias Arch Neurol 1994;51:750.
40. Schmechel DE, Saunders AM, Strittmatter WJ, et al. Increased amyloid β-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease. Proc Natl Acad Sci U S A 1993,90 9649-53.
41. Davignon J, Bouthillier D, Nestruck AC, Sing CF. Apolipoprotein E polymorphism and atherosclerosis: insight from a study in octogenarians. Trans Am Clin Climatol Assoc 1987;99:100-10.
42. Davignon J, Gregg RE, Sing CF. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 1988;8.1-21.
43. Wilson PWF, Myers RH, Larson MG, Ordovas JM, Wolf PA, Schaefer EJ. Apolipoprotein E alleges, dyslipidemia, and coronary heart disease: the Framingham Offspring Study. JAMA 1994;272:1666-71.
44. Cauley JA, Eichner JE, Kamboh MI, Ferrell RE, Kuller LH. Apo E allele frequencies in younger (age 42-50) vs older (age 65-90) women. Genet Epidemiol 1993;10:27-34
45. Schachter F, Faure-Delanef L, Guenot F, et al Genetic associations with human longevity at the APOE and ACE loci. Nat Genet 1994;6:29-32.
46. Strittmatter WJ, Weisgraber KH, Huang DY, et al. Binding of human apolipoprotein E to synthetic amyloid β peptide: isoform-specific effects and implications for late-onset Alzheimer disease. Proc Natl Acad Sci U S A 1993; 90:8098-102.
47. Wisniewski T, Castano EM, Golabek A, Vogel T, Frangione B. Acceleration of Alzheimer's fibril formation by apolipoprotein E in vitro. Am J Pathol 1994;145:1030-5.
48. Strittmatter WJ, Saunders AM, Goedert M, et al. Isoform-specific interactions of apolipoprotein E with microtubule-associated protein tau: implications for Alzheimer disease Proc Natl Acad Sci U S A 1994;91:1183-6.
49. Strittmatter WJ, Weisgraber KH, Goedert M, et al. Hypothesis, microtubule instability and paired helical filament formation in the Alzheimer disease brain are related to apolipoprotein E genotype. Exp Neurol 1994;125.163-71.
50. Kaplitt MG, Smith J, Ferrari F, et al. Expression of human apolipoprotein E in rodent brain via an adeno-associated virus vector. Abstr Soc Neurosci 1995;21:1008. abstract.