Premium
Genetics of Alzheimer's disease
Author(s) -
Lannfelt L
Publication year - 1996
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1996.tb00368.x
Subject(s) - senile plaques , pathogenesis , alzheimer's disease , bace1 as , amyloid precursor protein , amyloid (mycology) , p3 peptide , biology , disease , degenerative disease , pathology , biochemistry of alzheimer's disease , amyloid beta , neuroscience , medicine
Alzheimer's disease (AD) is characterised neuropathologically by the accumulation of neuritic plaques and neurofibrillary tangles as well as by cerebrovascular amyloid deposition and neuronal cell loss. The major component of neuritic plaques and cerebrovascular amyloid is a 40–42 amino acid peptide termed β‐amyloid, derived as a proteolytic fragment from the large amyloid precursor protein (APP) (1, 2), a membrane‐bound protein expressed in most tissues. The last few years have seen considerable advances in understanding the pathogenesis of Alzheimer's disease through genetic studies. The importance of the β‐amyloid peptide in the pathogenesis of AD has been strengthened by the identification of pathogenic mutations in the APP gene on chromosome 21 (3).