title: Possible Alzheimer's disease in an apolipoprotein E2 homozygote.
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.
authors.affiliation: The Cleo Roberts Center for Clinical Research, Sun Health Research Institute, Sun City, AZ, USA.
authors.forename: Ignat
authors.initials: I
authors.lastname: Ignatov
authors.forename: Christine
authors.initials: C
authors.lastname: Belden
authors.forename: Sandra
authors.initials: S
authors.lastname: Jacobson
authors.forename: Donald
authors.initials: D
authors.lastname: Connor
authors.forename: Marwan N
authors.initials: MN
authors.lastname: Sabbagh
mesh_terms: D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D001057:Apolipoproteins E / Q000235:genetics*; D000077265:Donepezil; D005260:Female; D006720:Homozygote; D006801:Humans; D007189:Indans / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008568:Memory; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D018697:Nootropic Agents / Q000627:therapeutic use; D010880:Piperidines / Q000627:therapeutic use; D049268:Positron-Emission Tomography; D014057:Tomography, X-Ray Computed
chemical_list: D001057:Apolipoproteins E; D007189:Indans; D018697:Nootropic Agents; D010880:Piperidines; D000077265:Donepezil