Dementia and geriatric cognitive disorders · 2010
Probable early-onset Alzheimer's disease in an apolipoprotein E2 homozygote.
Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Cole Lauren, Belden Christine, Jacobson Sandra, Liebsack Carolyn, Myers Kent, Reninger Cornelia, Berk Camryn, Sabbagh Marwan N
Аннотация
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.
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.