title: Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Clinical Research in Neurology, University of Bari, "Pia Fondazione Cardinale G. Panico", Lecce, Italy.
authors.forename: Rosa
authors.initials: R
authors.lastname: Capozzo
authors.affiliation: Neurogenetics Laboratory, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK.
authors.forename: Celeste
authors.initials: C
authors.lastname: Sassi
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK.
authors.forename: Monia B
authors.initials: MB
authors.lastname: Hammer
authors.affiliation: Department of Clinical Research in Neurology, University of Bari, "Pia Fondazione Cardinale G. Panico", Lecce, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Arcuti
authors.affiliation: Department of Clinical Research in Neurology, University of Bari, "Pia Fondazione Cardinale G. Panico", Lecce, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Zecca
authors.affiliation: Department of Clinical Research in Neurology, University of Bari, "Pia Fondazione Cardinale G. Panico", Lecce, Italy.
authors.forename: Maria R
authors.initials: MR
authors.lastname: Barulli
authors.affiliation: Department of Clinical Research in Neurology, University of Bari, "Pia Fondazione Cardinale G. Panico", Lecce, Italy.
authors.forename: Rosanna
authors.initials: R
authors.lastname: Tortelli
authors.affiliation: Neurogenetics Laboratory, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
authors.forename: J Raphael
authors.initials: JR
authors.lastname: Gibbs
authors.affiliation: Neurogenetics Laboratory, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Cynthia
authors.initials: C
authors.lastname: Crews
authors.affiliation: Department of Medical Sciences, Gerontology-Geriatrics Research Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Seripa
authors.affiliation: Department of Neurology, "Bonomo" Hospital, Andria, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Carnicella
authors.affiliation: Department of Neurology, "Bonomo" Hospital, Andria, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Dell'Aquila
authors.affiliation: Department of Neurology, "Miulli" Hospital, Bari, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Rossi
authors.affiliation: Department of Neurology, "Miulli" Hospital, Bari, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: Tamma
authors.affiliation: Unit of Neurology, "S. Giacomo" Hospital, Bari, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Valluzzi
authors.affiliation: Department of Basic Medical Science, Neuroscience and Sense Organs, University of Bari, Bari, Italy.
authors.forename: Bruno
authors.initials: B
authors.lastname: Brancasi
authors.affiliation: Department of Clinical Research in Neurology, University of Bari, "Pia Fondazione Cardinale G. Panico", Lecce, Italy; Department of Medical Sciences, Gerontology-Geriatrics Research Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy; Neurodegenerative Diseases Unit, Department of Basic Medical Science, Neuroscience and Sense Organs, University of Bari, Bari, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Panza
authors.affiliation: Neurogenetics Laboratory, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Andrew B
authors.initials: AB
authors.lastname: Singleton
authors.affiliation: Department of Clinical Research in Neurology, University of Bari, "Pia Fondazione Cardinale G. Panico", Lecce, Italy; Neurodegenerative Diseases Unit, Department of Basic Medical Science, Neuroscience and Sense Organs, University of Bari, Bari, Italy. Electronic address: giancarlo.logroscino@uniba.it.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Logroscino
mesh_terms: D017668:Age of Onset; D000368:Aged; D000073885:C9orf72 Protein / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005190:Family; D005260:Female; D057180:Frontotemporal Dementia / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D020022:Genetic Predisposition to Disease; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000077153:Progranulins; D012042:Registries; D000074405:Valosin Containing Protein / Q000235:genetics; D044465:White People / Q000235:genetics; D016875:tau Proteins / Q000235:genetics
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D004268:DNA-Binding Proteins; C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; C054369:MAPT protein, human; D000077153:Progranulins; C000598624:TARDBP protein, human; D016875:tau Proteins; C000614178:VCP protein, human; D000074405:Valosin Containing Protein
keywords: Behavioral variant of FTD; Frontotemporal dementia; Primary progressive aphasia: familial; Semantic dementia; Sporadic