Atypical Dementia Associated with a Novel Presenilin-2 Mutation

Giuliano Binetti, Simona Signorini, Rosanna Squitti, Antonella Alberici, Luisa Benussi, Emanuele Cassetta, Giovanni Battista Frisoni, Laura Barbiero, Enrica Feudatari, Francesca Nicosia, Cristina Testa, Orazio Zanetti, Massimo Gennarelli, Daniela Perani, Davide Anchisi, Roberta Ghidoni, Paolo Maria Rossini

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)832-836
Number of pages5
JournalAnnals of Neurology
Issue number6
Publication statusPublished - Dec 2003

ASJC Scopus subject areas

  • Neuroscience(all)


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