Apolipoprotein E allele epsilon 4 is linked to increased deposition of the amyloid beta-peptide (A-beta) in cases with or without Alzheimer's disease.
To assess the significance of the association between apolipoprotein E (APOE) epsilon 4 allele and amyloid beta-peptide (A-beta) deposits in the brain, we performed APOE-genotyping and measured the density of A-beta deposits, neuritic plaques and neurofibrillary tangles in 27 cases from the Charles Foix clinico-pathological prospective study. We found an increased density of A-beta deposits in the three cases with the epsilon 3/epsilon 4 genotype as compared-with epsilon 3/epsilon 3 subjects. Surprisingly, one of the epsilon 3/epsilon 4 genotypes was a 88-year-old woman, with normal intellectual functions and very low densities of neuritic plaques and neurofibrillary tangles but very high densities of preamyloid diffuse deposits of A-beta. This observation contrasted with the expected association between Alzheimer's disease and APOE epsilon 4 allele.
Berr
C
C
INSERM U360, Recherches épidémiologiques en Neurologie et Psychopathologie, Villejuif, France.
Hauw
J J
JJ
Delaère
P
P
Duyckaerts
C
C
Amouyel
P
P
D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D016229:Amyloid beta-Peptides / Q000378:metabolism*; D001057:Apolipoproteins E / Q000235:genetics*; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D011446:Prospective Studies; D012016:Reference Values
D016229:Amyloid beta-Peptides; D001057:Apolipoproteins E