Affiliations: The Cleo Roberts Center for Clinical Research, Sun Health Research Institute, Sun City, AZ, USA
Correspondence:
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Corresponding author: Marwan N. Sabbagh, M.D., Cleo Roberts Center for Clinical Research, Sun Health Research Institute, 10515 W. Santa Fe Drive, Sun City, AZ 85351, USA. Tel.: +1 623 875 6500; Fax: +1 623 875 6504; E-mail: Marwan.Sabbagh@sunhealth.org.
Abstract: The objective of this study was to describe a case of Alzheimer's disease in an ApoE ε2/ε2 homozygote. ApoE ε2/ε2 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 ε2/ε2 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.
Keywords: Alzheimer's disease, apolipoprotein E2, homozygote, PET scan
