title: Cognitive phenotypes in Alzheimer's disease and genetic variants in ACE and IDE.
abstract: Alzheimer's disease (AD) is generally considered to be a disorder primarily affecting memory. It is increasingly recognized that the clinical presentation or "cognitive phenotype" is variable. The apolipoprotein E ε4 (APOE ε4) allele has been associated with an amnestic presentation, but does not appear to fully explain the high prevalence of family history within this group. We examined polymorphisms in the genes ACE and IDE in relation to cognitive phenotype. In this study 276 participants with AD were categorized into 1 of 4 cognitive phenotype classifications: typical, amnestic, language, and posterior. Family history and possession of the APOE ε4 allele were most prevalent in the amnestic group. Of the 10 genetic variants of IDE, and the 3 genetic variants of ACE studied, only ACErs4291 and ACErs1800764 were nominally associated with the amnestic presentation.
authors.affiliation: Cerebral Function Unit, Salford Royal NHS Foundation Trust, Salford, UK.
authors.forename: Emma R L C
authors.initials: ER
authors.lastname: Vardy
authors.forename: Kristelle
authors.initials: K
authors.lastname: Brown
authors.forename: Cheryl L
authors.initials: CL
authors.lastname: Stopford
authors.forename: Jennifer C
authors.initials: JC
authors.lastname: Thompson
authors.forename: Anna M
authors.initials: AM
authors.lastname: Richardson
authors.forename: David
authors.initials: D
authors.lastname: Neary
authors.forename: Noor
authors.initials: N
authors.lastname: Kalsheker
authors.forename: Kevin
authors.initials: K
authors.lastname: Morgan
authors.forename: David M
authors.initials: DM
authors.lastname: Mann
authors.forename: Julie S
authors.initials: JS
authors.lastname: Snowden
mesh_terms: D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics*; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007339:Insulysin / Q000235:genetics*; D008297:Male; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D010641:Phenotype
chemical_list: C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A; D007339:Insulysin