Probable early-onset Alzheimer's disease in an apolipoprotein E2 homozygote.
نویسندگان
چکیده
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.
منابع مشابه
The Apolipoprotein E € 2 Allele Is Associated with an Increased Rsk of Early - Onset Alzheimer ' s Disease and a Reduced Survival
It was suggested that in contrast to the E4 allele, the E2 allele of the apolipoprotein E gene (APOE"2) has a protective effect for late-onset Alzheimer's disease and early-onset Alzheimer's disease (EOAD). We studied the role of the APOE*2 allele in the pathogenesis of EOAD in a Dutch population-based study of 175 probable EOAD patients with onset age at or before 65 years and 532 age-matched ...
متن کاملPreclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E.
BACKGROUND Variants of the apolipoprotein E allele appear to account for most cases of late-onset Alzheimer's disease, and persons with two copies of the epsilon 4 allele appear to have an especially high risk of dementia. Positron-emission tomography (PET) has identified specific regions of the brain in which the rate of glucose metabolism declines progressively in patients with probable Alzhe...
متن کاملThe role of genetics in alzheimer’s disease
Alzheimer's disease is a progressive neurological disorder that causes the brain to shrink (atrophy) and brain cells die. Alzheimer's disease is the most common cause of dementia and causes a decrease in thinking skills and social behaviors. Alzheimer's disease is more common in people over 65 years old. The risk of developing Alzheimer's disease and other types of dementia increases with age,...
متن کاملApolipoprotein E epsilon 4 allele is a risk factor for familial and sporadic presenile Alzheimer's disease in both homozygote and heterozygote carriers.
While apoliprotein E (ApoE) epsilon 4 allele is now a well established risk factor for familial and sporadic senile Alzheimer's disease (AD), its role in the development of the rarer presenile or early onset type is controversial. Early studies showed no association; later ones found enrichment for the epsilon 4 allele in familial or sporadic types or both. We have ApoE genotyped a series of Sc...
متن کاملApolipoprotein E epsilon4 allele decreases functional connectivity in Alzheimer's disease as measured by EEG coherence.
OBJECTIVES The epsilon4 allele of apolipoprotein E (APOE) represents a major biological risk factor for late onset Alzheimer's disease. However, it is still not known whether the APOE genotype affects the progression of the disease, assessed by different functional methods. METHODS The study sample included 41 patients with probable Alzheimer's disease. Subjects had similar severity of diseas...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Dementia and geriatric cognitive disorders
دوره 30 5 شماره
صفحات -
تاریخ انتشار 2010