Abstract
Most cases of Alzheimer's disease (AD) are sporadic (sAD), therefore a small fraction (5%) of AD is familial (fAD) due to the inheritance of mutated genes. Mutations in presenilin genes (PS1 and PS2) account for 40% of AD familial cases. The most severe mutation in PS1 is a donor-acceptor splice mutation that causes two amino-acid substitutions and an in-frame deletion of exon 9 (PS1-E9)…