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Presenilin‐1 polymorphism and neuropathological lesions of aging brain and late‐onset Alzheimer's disease
Author(s) -
Uchihara Toshiki,
Helbeque Nicole,
Amouyel Philippe,
Duyckaerts Charles,
Hauw JeanJacques
Publication year - 1997
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.1997.tb00041.x
Subject(s) - presenilin , genotype , alzheimer's disease , subiculum , pathology , medicine , disease , hippocampal formation , biology , neuroscience , genetics , gene , dentate gyrus
In addition to missense mutations of the presenilin‐1 gene, an association between a polymorphism within the intron 3’to exon 8 and late‐onset sporadic Alzheimer's disease (AD) cases has been reported. This study examined the relationship between this polymorphism and the density of lesions by studying a homogeneous group of cases with different levels (normal to severely demented) of intellectual impairment. There were no differences in age and intellectual status between the groups of different genotypes. In all areas of the brain examined (frontal, temporal, calcarine, supramarginal and subicular areas), we found no difference in the density of Aβ‐deposits. Only in the subicular area, a lower density of neurofibrillary tangles (NFT) was found in the 2/2 genotype group compared with those found in the combined group of 1/1 and 1/2 genotypes. This suggests that this polymorphism influences the development of NFT preferentially detected in the subiculum, where prominent AD lesions are usually observed.