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.

0 (Amyloid beta-Protein Precursor), 0 (Apolipoproteins E), 0 (Codon), Adult, Aged, Aged, 80 and over, Alleles, Alzheimer Disease/genetics, Amyloid Neuropathies/genetics/pathology, Amyloid beta-Protein Precursor/*genetics, Apolipoproteins E/*genetics, Brain/pathology, Cerebral Hemorrhage/genetics/pathology, Codon, Female, Genotype, Human, Immunohistochemistry, Male, Middle Aged, Mutation/*genetics, Support, Non-U.S. Gov't, Support, U.S. Gov't, P.H.S., dementia
Annals of Neurology
Erasmus MC: University Medical Center Rotterdam

Haan, J, van Duijn, C.M, Voorhoeve, E, van Harskamp, F, Maat-Schieman, M.L.C, Roos, R.A.C, … van Broeckhoven, C. (1994). The apolipoprotein E ε 4 allele does not influence the clinical expression of the amyloid precursor protein-gene codon 693 or 692 mutations. Annals of Neurology, 36, 434–437. Retrieved from