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- W2760444503 abstract "Alzheimer's disease (AD) is the most common form of senile dementia, characterized by the presymptomatic deposition of β-amyloid plaques followed by neurofibrillary tangles. After advanced age, family history is the second strongest risk factor for AD. Rare and highly penetrant pathogenic variants in Amyloid Precursor Protein (APP), Presenilin 1 and 2 genes (PSEN1, PSEN2) cause early-onset (before age 60 years) familial form of AD. On the other hand, late-onset AD is attributed to a commonly occurring ε4 allele in the gene apoliprotein E. These four genes explain 30–50% of the heritability in AD. Genome-wide association studies have revealed additional AD genetic loci; future genetic studies involving whole-exome and whole-genome sequencing will provide a more refined knowledge of the role of different functional genetic variants in the disease pathway. In this chapter we review past and current genetic studies in AD, along with functional characterizations and implications for treatment and prevention of this debilitating disease." @default.
- W2760444503 created "2017-10-06" @default.
- W2760444503 creator A5050004777 @default.
- W2760444503 creator A5064962011 @default.
- W2760444503 date "2016-01-01" @default.
- W2760444503 modified "2023-09-24" @default.
- W2760444503 title "The Genetic Basis of Alzheimer's Disease" @default.
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