Rosa Capozzo1, Celeste Sassi2, Monia B Hammer3, Simona Arcuti1, Chiara Zecca1, Maria R Barulli1, Rosanna Tortelli1, J Raphael Gibbs4, Cynthia Crews4, Davide Seripa5, Francesco Carnicella6, Claudia Dell'Aquila6, Marco Rossi7, Filippo Tamma7, Francesco Valluzzi8, Bruno Brancasi9, Francesco Panza10, Andrew B Singleton4, Giancarlo Logroscino11. 1. Department of Clinical Research in Neurology, University of Bari, "Pia Fondazione Cardinale G. Panico", Lecce, Italy. 2. 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. 3. Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK. 4. Neurogenetics Laboratory, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. 5. Department of Medical Sciences, Gerontology-Geriatrics Research Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy. 6. Department of Neurology, "Bonomo" Hospital, Andria, Italy. 7. Department of Neurology, "Miulli" Hospital, Bari, Italy. 8. Unit of Neurology, "S. Giacomo" Hospital, Bari, Italy. 9. Department of Basic Medical Science, Neuroscience and Sense Organs, University of Bari, Bari, Italy. 10. 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. 11. 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.
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.
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.
Authors: S F Fabre; C Forsell; M Viitanen; M Sjögren; A Wallin; K Blennow; M Blomberg; C Andersen; L O Wahlund; L Lannfelt Journal: Exp Neurol Date: 2001-04 Impact factor: 5.330
Authors: R Tortelli; M Copetti; F Panza; A Fontana; R Cortese; R Capozzo; A Introna; E D'Errico; S Zoccolella; S Arcuti; D Seripa; I L Simone; G Logroscino Journal: Eur J Neurol Date: 2016-03-25 Impact factor: 6.089
Authors: J Garre-Olmo; D Genís Batlle; M del Mar Fernández; F Marquez Daniel; R de Eugenio Huélamo; T Casadevall; J Turbau Recio; A Turon Estrada; S López-Pousa Journal: Neurology Date: 2010-09-01 Impact factor: 9.910
Authors: Julene K Johnson; Janine Diehl; Mario F Mendez; John Neuhaus; Jill S Shapira; Mark Forman; Dennis J Chute; Erik D Roberson; Catherine Pace-Savitsky; Manuela Neumann; Tiffany W Chow; Howard J Rosen; Hans Forstl; Alexander Kurz; Bruce L Miller Journal: Arch Neurol Date: 2005-06
Authors: Andrew Graham; Rhys Davies; John Xuereb; Glenda Halliday; Jillian Kril; Helen Creasey; Kim Graham; John Hodges Journal: Brain Date: 2005-01-05 Impact factor: 13.501
Authors: T Van Langenhove; J van der Zee; K Sleegers; S Engelborghs; R Vandenberghe; I Gijselinck; M Van den Broeck; M Mattheijssens; K Peeters; P P De Deyn; M Cruts; C Van Broeckhoven Journal: Neurology Date: 2010-02-02 Impact factor: 9.910
Authors: Bradley F Boeve; Kevin B Boylan; Neill R Graff-Radford; Mariely DeJesus-Hernandez; David S Knopman; Otto Pedraza; Prashanthi Vemuri; David Jones; Val Lowe; Melissa E Murray; Dennis W Dickson; Keith A Josephs; Beth K Rush; Mary M Machulda; Julie A Fields; Tanis J Ferman; Matthew Baker; Nicola J Rutherford; Jennifer Adamson; Zbigniew K Wszolek; Anahita Adeli; Rodolfo Savica; Brendon Boot; Karen M Kuntz; Ralitza Gavrilova; Andrew Reeves; Jennifer Whitwell; Kejal Kantarci; Clifford R Jack; Joseph E Parisi; John A Lucas; Ronald C Petersen; Rosa Rademakers Journal: Brain Date: 2012-03 Impact factor: 13.501
Authors: Hilary W Heuer; P Wang; K Rascovsky; A Wolf; B Appleby; J Bove; Y Bordelon; P Brannelly; D E Brushaber; C Caso; G Coppola; B Dickerson; S Dickinson; K Domoto-Reilly; K Faber; J Ferrall; J Fields; A Fishman; J Fong; T Foroud; L K Forsberg; D Gearhart; B Ghazanfari; N Ghoshal; J Goldman; J Graff-Radford; N Graff-Radford; I Grant; M Grossman; D Haley; G-Y Hsiung; E Huey; D Irwin; D Jones; K Kantarci; A Karydas; D Kaufer; D Kerwin; D Knopman; J Kornak; J H Kramer; R Kraft; W K Kremers; W Kukull; I Litvan; P Ljubenkov; I R Mackenzie; M Maldonado; M Manoochehri; S McGinnis; E McKinley; M F Mendez; B L Miller; C Onyike; A Pantelyat; R Pearlman; L Petrucelli; M Potter; R Rademakers; E M Ramos; K P Rankin; E D Roberson; E Rogalski; P Sengdy; L Shaw; J Syrjanen; M C Tartaglia; N Tatton; J Taylor; A Toga; J Trojanowski; S Weintraub; B Wong; Z Wszolek; B F Boeve; H J Rosen; A L Boxer Journal: Alzheimers Dement Date: 2020-01 Impact factor: 21.566
Authors: Francesco Panza; Bruno P Imbimbo; Madia Lozupone; Davide Seripa; Antonio Daniele; Mark Watling; Gianluigi Giannelli Journal: Nat Rev Neurol Date: 2020-03-23 Impact factor: 42.937
Authors: Sarah E Burke; Jeffrey S Phillips; Christopher A Olm; Claire S Peterson; Phillip A Cook; James C Gee; Edward B Lee; John Q Trojanowski; Lauren Massimo; David J Irwin; Murray Grossman Journal: Neurobiol Aging Date: 2022-02-24 Impact factor: 5.133
Authors: Shelley L Forrest; Glenda M Halliday; Heather McCann; Andrew B McGeachie; Ciara V McGinley; John R Hodges; Olivier Piguet; John B Kwok; Maria G Spillantini; Jillian J Kril Journal: Alzheimers Dement (Amst) Date: 2019-01-24