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The apolipoprotein E ε4 allele does not influence the clinical expression of the amyloid precursor protein gene codon 693 or 692 mutations
Author(s) -
Haan Joost,
Van Broeckhoven Christine,
Van Duijn Cornelia M.,
Voorhoeve Els,
van Harskamp Frans,
van Swieten John C.,
MaatSchieman Marion L. C.,
Roos Raymund A. C.,
Bakker Egbert
Publication year - 1994
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410360315
Subject(s) - allele , mutation , amyloid precursor protein , gene , genetics , apolipoprotein e , dementia , apolipoprotein b , asymptomatic carrier , biology , amyloid (mycology) , asymptomatic , microbiology and biotechnology , medicine , alzheimer's disease , endocrinology , cholesterol , disease , botany
Abstract In 31 symptomatic and 5 asymptomatic carriers of the amyloid precursor protein (APP) gene codon 693 mutation, 10 family members without mutation, and 5 carriers of the APP gene codon 692 mutation (3 with early‐onset Alzheimer dementia, 2 with cerebral hemorrhage), a high frequency of the apolipoprotein E ϵ4 allele was found. Age at onset, age at death, occurrence of dementia, and number of strokes did not differ between APP gene mutation carriers with or without ϵ4 allele, showing that the clinical expression of these APP mutations is not influenced by the apolipoprotein E gene.