Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease

We report a new mutation (p.Ile408Thr, c. 1223T > C) in the PSEN1 gene in one autosomal dominant Late Onset AD patient. The genetic variation occurred in a conserved domain of the protein and was present in the proband and in the younger sister who is likely to be prodromal AD. Thus, we suggest that this variant will have probably a pathogenic effect, hypothesizing a possible key role of this new mutation in the pathogenesis of Alzheimer's disease for this family.