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Case Reports
. 2010;30(5):387-91.
doi: 10.1159/000320589. Epub 2010 Oct 23.

Probable early-onset Alzheimer's disease in an apolipoprotein E2 homozygote

Lauren Cole  1 , Christine Belden, Sandra Jacobson, Carolyn Liebsack, Kent Myers, Cornelia Reninger, Camryn Berk, Marwan N Sabbagh
Affiliations
Case Reports

Probable early-onset Alzheimer's disease in an apolipoprotein E2 homozygote

Lauren Cole et al. Dement Geriatr Cogn Disord. 2010.

Abstract

Objective: To describe a case of early-onset Alzheimer's disease (AD) in an apolipoprotein (Apo) ε2/ε2 homozygote.

Background: Apo ε2/ε2 is the rarest of the ApoE genotypes, representing only 1.4% of the population. Cognitive decline in ApoE ε2 homozygotes has rarely been reported.

Case report/methods: We report a 58-year-old Apo ε2/ε2 female who meets clinical criteria for probable AD as confirmed by neuropsychological testing, positron emission/computed tomography scan, CSF analysis and genetic screening for known mutations.

Results: The clinical course is typical of AD, with progressive cognitive and functional decline.

Conclusion: Clinically confirmed early-onset AD is atypical in ApoE2 homozygotes but can occur.

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Figures

Fig. 1
Fig. 1
a Axial PET showing hypometabolism of parietal and posterior cingulate gyrus. b Axial CT showing no significant ischemic changes and no regional/focal atrophy.
See this image and copyright information in PMC

References

    1. Mahley RW. Apolipoprotein E: cholesterol transport protein with expanding role in cell bioloy. Science. 1988;240:622–630. - PubMed
    1. Strittmatter WJ, Roses AD. Apolipoprotein E and Alzheimer disease. Proc Natl Acad Sci USA. 1995;92:4725–4727. - PMC - PubMed
    1. Corder EH, Saunders AM, Risch NJ, et al. Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nat Genet. 1994;7:180–184. - PubMed
    1. Lippa CF, Smith TW, Saunders AM, Hullete C, Pulaski-Salo D, Roses AD. Apolipoprotein E-epsilon 2 and Alzheimer's disease: genotype influences pathologic phenotype. Neurology. 1997;48:515–519. - PubMed
    1. Berlau DJ, Kahle-Wrobleski K, Head E, Goodus M, Kim R, Kawas C. Dissociation of neuropathologic findings and cognition: case report of an apolipoprotein E epsilon2/epsilon2 genotype. Arch Neurol. 2007;64:1193–1196. - PMC - PubMed

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