Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy

Rosa Capozzo, Celeste Sassi, Monia B. Hammer, Simona Arcuti, Chiara Zecca, Maria R. Barulli, Rosanna Tortelli, J. Raphael Gibbs, Cynthia Crews, Davide Seripa, Francesco Carnicella, Claudia Dell'Aquila, Marco Rossi, Filippo Tamma, Francesco Valluzzi, Bruno Brancasi, Francesco Panza, Andrew B. Singleton, Giancarlo Logroscino

Research output: Contribution to journalArticlepeer-review


Introduction We investigated the clinical differences between familial and sporadic frontotemporal dementia (FTD), screening for mutations in known FTD genes. Methods We diagnosed 22 affected individuals belonging to eight families and 43 sporadic cases with FTD in Apulia, Southern Italy, in 2 years. Mutations in common causative FTD genes (GRN, MAPT, VCP, and TARDBP) and C9ORF72 expansions were screened. Results Behavioral variant of FTD was the most common clinical subtype (50% and 69% in familial and sporadic cases, respectively). Social conduct impairment/disinhibition, loss of insight, and inflexibility were the most frequent clinical features observed at onset. One new mutation was identified in GRN in family A. Discussion Disease onset in sporadic FTD was more frequently characterized by a clustering of behavioral symptoms with apathy and loss of personal hygiene. Mutations in common causative FTD genes are not a major cause of familial and sporadic FTD in the Southern Italian population.

Original languageEnglish
Pages (from-to)858-869
Number of pages12
JournalAlzheimer's and Dementia
Issue number8
Publication statusPublished - Aug 1 2017


  • Behavioral variant of FTD
  • Frontotemporal dementia
  • Primary progressive aphasia: familial
  • Semantic dementia
  • Sporadic

ASJC Scopus subject areas

  • Epidemiology
  • Health Policy
  • Developmental Neuroscience
  • Clinical Neurology
  • Geriatrics and Gerontology
  • Cellular and Molecular Neuroscience
  • Psychiatry and Mental health


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