A Novel italian presenilin 2 gene mutation with prevalent behavioral phenotype

Gabriella Marcon, Giuseppe Di Fede, Giorgio Giaccone, Giacomina Rossi, Anna Rita Giovagnoli, Elio MacCagnano, Fabrizio Tagliavini

Research output: Contribution to journalArticlepeer-review


Presenilin mutations are the main cause of familial Alzheimer's disease. So far, more than 160 mutations in the Presenilin 1 gene (PSEN1) and approximately 10 mutations in the homologous Presenilin 2 gene (PSEN2) have been identified. Some PSEN1 mutations are associated with a phenotype fulfilling the clinical criteria of frontotemporal dementia. In PSEN2, T122P and M239V mutations presented with severe behavioral disturbances. We describe an Italian patient with a novel PSEN2 mutation (Y231C) who showed behavioral abnormalities and language impairment as presenting symptoms, with later involvement of other cognitive abilities, particularly of posterior functions.

Original languageEnglish
Pages (from-to)509-511
Number of pages3
JournalJournal of Alzheimer's Disease
Issue number3
Publication statusPublished - 2009


  • Alzheimer's disease
  • Atypical phenotype
  • Familial
  • Mutation
  • Presenilin 2

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Psychiatry and Mental health
  • Clinical Psychology


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