Possible Alzheimer's disease in an apolipoprotein E2 homozygote

Document Type

Article

Abstract

The objective of this study was to describe a case of Alzheimer's disease in an ApoE epsilon2/epsilon2 homozygote. ApoE epsilon2/epsilon2 is the rarest of the apolipoprotein E genotypes, representing only 1.4% of the population. There is only one case reported in the literature of a nonagenarian with minimal cognitive changes whose brain showed AD pathology on postmortem study. Here we report an 87-year-old ApoE epsilon2/epsilon2 female who meets clinical criteria for Alzheimer's disease, with confirmation from neuropsychological testing and PET scan. Clinical course is typical for Alzheimer's disease with decline on the Mini-Mental Status Examination from a score of 25 to 19 over 3.5 years. The patient is currently treated with donepezil and memantine. In conclusion, a clinically confirmed case of Alzheimer's disease is rare in Apo E2 homozygotes but can occur.

Medical Subject Headings

Aged, 80 and over; Alzheimer Disease (diagnosis, genetics, psychology); Apolipoproteins E (genetics); Donepezil; Female; Homozygote; Humans; Indans (therapeutic use); Magnetic Resonance Imaging; Memory; Neurologic Examination; Neuropsychological Tests; Nootropic Agents (therapeutic use); Piperidines (therapeutic use); Positron-Emission Tomography; Tomography, X-Ray Computed

Publication Date

1-1-2009

Publication Title

Journal of Alzheimer's disease : JAD

ISSN

1387-2877

Volume

16

Issue

1

First Page

35

Last Page

8

PubMed ID

19158419

Digital Object Identifier (DOI)

10.3233/JAD-2009-0932

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