Prevalence of TAU mutations in an Italian clinical series of familial frontotemporal patients

Giuliano Binetti, Francesca Nicosia, Luisa Benussi, Roberta Ghidoni, Enrica Feudatari, Laura Barbiero, Simona Signorini, Aldo Villa, Flavia Mattioli, Orazio Zanetti, Antonella Alberici

Research output: Contribution to journalArticlepeer-review


Frontotemporal dementia (FTD) is a clinical entity grouping different diagnostic conditions. FTD can occur in a sporadic form; however in 30-50% of cases a familial form of FTD has been observed. Mutations in the TAU gene were associated to familial FTD linked to chromosome 17. Our aim was to investigated the proportion of FTD cases attributable to TAU gene mutations in an Italian clinical series. We analyzed 38 patients with FTD; of these, 13 had a positive family history of FTD. All TAU gene exons and flanking intronic regions were sequenced. In our familial FTD sample the estimation of TAU gene mutations accounted for a relative low prevalence (7.6%); based on our results we could argue the existence of other mutations in regulatory regions in the TAU gene or, on the other hand, other genes might be responsible for the most cases of familial FTD.

Original languageEnglish
Pages (from-to)85-87
Number of pages3
JournalNeuroscience Letters
Issue number1
Publication statusPublished - Feb 20 2003


  • Clinical series
  • Frontotemporal dementia
  • Mutations
  • Prevalence
  • Sequencing
  • TAU gene

ASJC Scopus subject areas

  • Neuroscience(all)


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