title: Pathological changes in the brain of a patient with familial Alzheimer's disease having a missense mutation at codon 717 in the amyloid precursor protein gene.
abstract: The brain of a 61-year-old patient with familial Alzheimer's disease, showing a missense (valine----glycine) mutation at codon 717 of the amyloid precursor gene, has been examined at postmortem. Sections of brain showed pathological features entirely typical of Alzheimer's disease with no unusual characteristics. It seems therefore that this particular mutation is indeed pathogenic and that the altered amyloid precursor protein resulting from expression of this mutation is processed in a way that triggers or promotes the pathological cascade of Alzheimer's disease.
authors.affiliation: Department of Pathological Sciences, University of Manchester, UK.
authors.forename: D M
authors.initials: DM
authors.lastname: Mann
authors.forename: D
authors.initials: D
authors.lastname: Jones
authors.forename: J S
authors.initials: JS
authors.lastname: Snowden
authors.forename: D
authors.initials: D
authors.lastname: Neary
authors.forename: J
authors.initials: J
authors.lastname: Hardy
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics / Q000473:pathology*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001921:Brain / Q000473:pathology*; D003062:Codon; D005260:Female; D006801:Humans; D009154:Mutation; D009434:Neural Pathways / Q000166:cytology / Q000502:physiology
chemical_list: D016564:Amyloid beta-Protein Precursor; D003062:Codon