The apolipoprotein E ε4 allele does not influence the clinical expression of the amyloid precursor protein gene codon 693 or 692 mutations

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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.