Atypical dementia associated with a novel presenilin‐2 mutation

Abstract

We describe an Italian pedigree with hereditary dementia associated with a novel T122R mutation in the presenilin‐2 gene (PSEN2). The clinical history, symptom presentation, and structural neuroimaging were consistent with an atypical form of dementia. Disease expression varied within family members. One in a pair of mutated monozygotic twins had evident signs of disease, whereas the other did not, even if her functional neuroimaging investigations, cerebrospinal fluid levels of Aβ1‐42, and Tau protein were able to provide markers for future disease development. These observations suggest the importance of still unknown biological and perhaps environmental factors in the disease determination.