Authors
Warren J Strittmatter, Ann M Saunders, Donald Schmechel, Margaret Pericak-Vance, Jan Enghild, Guy S Salvesen, Allen D Roses
Publication date
1993/3/1
Journal
Proceedings of the National Academy of Sciences
Volume
90
Issue
5
Pages
1977-1981
Description
Apolipoprotein E is immunochemically localized to the senile plaques, vascular amyloid, and neurofibrillary tangles of Alzheimer disease. In vitro, apolipoprotein E in cerebrospinal fluid binds to synthetic beta A4 peptide (the primary constituent of the senile plaque) with high avidity. Amino acids 12-28 of the beta A4 peptide are required. The gene for apolipoprotein E is located on chromosome 19q13.2, within the region previously associated with linkage of late-onset familial Alzheimer disease. Analysis of apolipoprotein E alleles in Alzheimer disease and controls demonstrated that there was a highly significant association of apolipoprotein E type 4 allele (APOE-epsilon 4) and late-onset familial Alzheimer disease. The allele frequency of the APOE-epsilon 4 in 30 random affected patients, each from a different Alzheimer disease family, was 0.50 +/- 0.06; the allele frequency of APOE-epsilon 4 in 91 age-matched …
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WJ Strittmatter, AM Saunders, D Schmechel… - Proceedings of the National Academy of Sciences, 1993