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• W2090650498 endingPage "24" @default.
• W2090650498 startingPage "1" @default.
• W2090650498 abstract "Alzheimer's disease (AD) is the most common type of dementia in the elderly population. Three genes have been identified as responsible for the rare early-onset familial form of the disease: the amyloid precursor protein (APP) gene, the presenilin 1 (PSEN1) gene and the presenilin 2 (PSEN2) gene. Mutations in these genes, however, account for less than 5% of the total number of AD cases. The remaining 95% of AD patients are mostly sporadic late-onset cases, with a complex aetiology due to interactions between environmental conditions and genetic features of the individual. In this paper, we review the most important genes supposed to be involved in the pathogenesis of AD, known as susceptibility genes, in an attempt to provide a comprehensive picture of what is known about the genetic mechanisms underlying the onset and progression of AD. Hypotheses about the role of each gene in the pathogenic pathway are discussed, taking into account the functions and molecular features, if known, of the coded protein. A major susceptibility gene, the apolipoprotein E (APOE) gene, found to be associated with sporadic late-onset AD cases and the only one, whose role in AD has been confirmed in numerous studies, will be included in a specific chapter. As the results reported by association studies are conflicting, we conclude that a better understanding of the complex aetiology that underlies AD may be achieved likely through a multidisciplinary approach that combines clinical and neurophysiological characterization of AD subtypes and in vivo functional brain imaging studies with molecular investigations of genetic components." @default.
• W2090650498 created "2016-06-24" @default.
• W2090650498 creator A5004603683 @default.
• W2090650498 creator A5010611941 @default.
• W2090650498 creator A5056579006 @default.
• W2090650498 creator A5069050424 @default.
• W2090650498 date "2003-06-01" @default.
• W2090650498 modified "2023-09-24" @default.
• W2090650498 title "Causative and susceptibility genes for Alzheimer’s disease: a review" @default.
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