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Cognitive phenotypes in Alzheimer's disease and genetic variants in ACE and IDE

Lookup NU author(s): Dr Emma Vardy


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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.

Publication metadata

Author(s): Vardy ERLC, Brown K, Stopford CL, Thompson JC, Richardson AM, Neary D, Kalsheker N, Morgan K, Mann DM, Snowden JS

Publication type: Article

Publication status: Published

Journal: Neurobiology of Aging

Year: 2012

Volume: 33

Issue: 7

Pages: 1486.e1-1486.e2

Print publication date: 12/01/2011

ISSN (print): 0197-4580

ISSN (electronic): 1558-1497


DOI: 10.1016/j.neurobiolaging.2010.11.003

PubMed id: 2012287238


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