title: The apolipoprotein E epsilon 4 allele does not influence the clinical expression of the amyloid precursor protein gene codon 693 or 692 mutations.
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 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.
authors.affiliation: Department of Neurology, University Hospital Leiden, The Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: Haan
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: C M
authors.initials: CM
authors.lastname: van Duijn
authors.forename: E
authors.initials: E
authors.lastname: Voorhoeve
authors.forename: F
authors.initials: F
authors.lastname: van Harskamp
authors.forename: J C
authors.initials: JC
authors.lastname: van Swieten
authors.forename: M L
authors.initials: ML
authors.lastname: Maat-Schieman
authors.forename: R A
authors.initials: RA
authors.lastname: Roos
authors.forename: E
authors.initials: E
authors.lastname: Bakker
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics; D017772:Amyloid Neuropathies / Q000235:genetics / Q000473:pathology; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002543:Cerebral Hemorrhage / Q000235:genetics / Q000473:pathology; D003062:Codon; D005260:Female; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*
chemical_list: D016564:Amyloid beta-Protein Precursor; D001057:Apolipoproteins E; D003062:Codon