Abstract
Alzheimer’s disease (AD) is a progressive neurodegenerative disorder of the central nervous system which is invariably associated with and defined by the presence of intracellular neurofibrillary tangles (NFT) and extracellular deposits of amyloid (Aβ senile plaques) in the brain and cerebral blood vessels. While the etiologic events that lead to the generation of these pathological hallmarks and ultimately to synaptic loss and neurodegeneration are not well understood, it is clear that a significant portion of AD has a genetic basis (see Wasco and Tanzi 1996 for review). These familial forms of Alzheimer’s disease (FAD) can be classified based on both the age of onset and the type of gene defect inherited. A large proportion of early onset (<60 years old) FAD is attributed to “causative” defects in one of three genes. Mutations in the amyloid β protein precursor (APP) gene located on chromosome 21 (Goate et al. 1991; Levy et al. 1990; Murrell et al. 1991; Chartier-Harlin et al. 1991; Hendriks et al. 1992; Mullan et al. 1992) cause a small percentage of early-onset FAD, but the majority of early-onset FAD is known to be caused by mutations in two recently identified genes, presenilin 1 (PS1) and presenilin 2 (PS2); Sherrington et al. 1995; Levy-Lahad et al. 1995; Rogaev et al. 1995). An allele of a fourth gene, APOE4 which is located on chromosome 19, confers increased “risk” for late onset FAD (>60 years of age; Pericak-Vance et al. 1991; Strittmatter et al. 1993; Corder et al. 1993; Rebeck et al. 1993).
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Wasco, W. et al. (1998). Presenilin 2 — APP Interactions. In: Younkin, S.G., Tanzi, R.E., Christen, Y. (eds) Presenilins and Alzheimer’s Disease. Research and Perspectives in Alzheimer’s Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-72103-8_7
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DOI: https://doi.org/10.1007/978-3-642-72103-8_7
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