Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy. Issue 8 (3rd March 2017)

• Record Type: Journal Article
• Authors: Capozzo, Rosa; Sassi, Celeste; Hammer, Monia B.; Arcuti, Simona; Zecca, Chiara; Barulli, Maria R.; Tortelli, Rosanna; Gibbs, J. Raphael; Crews, Cynthia; Seripa, Davide; Carnicella, Francesco; Dell'Aquila, Claudia; Rossi, Marco; Tamma, Filippo; Valluzzi, Francesco; Brancasi, Bruno; Panza, Francesco; Singleton, Andrew B.; Logroscino, Giancarlo
• Is Part Of: Alzheimer's & dementia. Volume 13:Issue 8(2017)
• Page Start: 858
• Page End: 869
• Publication Date: 2017-03-03
• Subjects: Frontotemporal dementia -- Behavioral variant of FTD -- Semantic dementia -- Primary progressive aphasia: familial -- Sporadic; Alzheimer's disease -- Periodicals; Alzheimer Disease -- Periodicals; Dementia -- Periodicals; Démence; Maladie d'Alzheimer; Périodique électronique (Descripteur de forme); Ressource Internet (Descripteur de forme); 616.83
• DOI: 10.1016/j.jalz.2017.01.011
• Languages: English
• ISSNs: 1552-5260

Abstract

Abstract: 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.