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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 epsilon 4 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 epsilon 4 allele, showing that the clinical expression of these APP mutations is not influenced by the apolipoprotein E gene.

Original publication




Journal article


Ann Neurol

Publication Date





434 - 437


Adult, Aged, Aged, 80 and over, Alleles, Alzheimer Disease, Amyloid Neuropathies, Amyloid beta-Protein Precursor, Apolipoproteins E, Brain, Cerebral Hemorrhage, Codon, Female, Genotype, Humans, Immunohistochemistry, Male, Middle Aged, Mutation