title: Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.
abstract: The objectives of this study were to estimate frontotemporal dementia (FTD) prevalence, identify FTD-related mutations, and correlate FTD phenotype with mutations in a southern Italian population. The study population consisted of subjects ≥ 50 years of age residing in the Community of Biv. on January 1, 2004, and a door-to-door 2-phase design was used. Genetic and biochemical analyses were done on samples collected from 32 patients. Prevalence rates were 0.6 for Alzheimer's disease, 0.4 for vascular dementia (VD), 3.5 for FTD, 0.2 for Parkinson dementia, and 1.2 for unspecified dementia. Three GRN (1 known and 2 novel) mutations with reduced plasma protein levels were found associated to 3 distinct phenotypes (behavioral, affective, and delirious type). We report an unusually high FTD prevalence in the investigated population, but a low prevalence of Alzheimer's disease. We confirm the heterogeneity of FTD phenotype associated with different GRN mutations.
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Livia
authors: L
authors: Bernardi
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Francesca
authors: F
authors: Frangipane
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Nicoletta
authors: N
authors: Smirne
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Rosanna
authors: R
authors: Colao
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Gianfranco
authors: G
authors: Puccio
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Sabrina Am
authors: SA
authors: Curcio
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Maria
authors: M
authors: Mirabelli
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Raffaele
authors: R
authors: Maletta
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Maria
authors: M
authors: Anfossi
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Maura
authors: M
authors: Gallo
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Silvana
authors: S
authors: Geracitano
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Maria Elena
authors: ME
authors: Conidi
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Raffale
authors: R
authors: Di Lorenzo
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Alessandra
authors: A
authors: Clodomiro
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Chiara
authors: C
authors: Cupidi
authors: Unit of Laboratory ASPRC, Italy.
authors: Sandra
authors: S
authors: Marzano
authors: Unit of Laboratory ASPRC, Italy.
authors: Francesco
authors: F
authors: Comito
authors: Unit of Laboratory ASPRC, Italy.
authors: Vincenzo
authors: V
authors: Valenti
authors: Unit of Laboratory ASPRC, Italy.
authors: Maria Angela
authors: MA
authors: Zirilli
authors: Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
authors: Mahdi
authors: M
authors: Ghani
authors: Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
authors: Zhengrui
authors: Z
authors: Xi
authors: Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
authors: Christine
authors: C
authors: Sato
authors: Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
authors: Danielle
authors: D
authors: Moreno
authors: Unit of Microbiology, ASPCZ Lamezia Terme, Italy.
authors: Annelisa
authors: A
authors: Borelli
authors: Unit of Microbiology, ASPCZ Lamezia Terme, Italy.
authors: Rosa Anna
authors: RA
authors: Leone
authors: Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.|Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.|Cambridge Institute for Medical Research, and the Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
authors: Peter
authors: P
authors: St George-Hyslop
authors: Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.|Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
authors: Ekaterina
authors: E
authors: Rogaeva
authors: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors: Amalia C
authors: AC
authors: Bruni
mesh_terms: D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics; D000073885:C9orf72 Protein; D015331:Cohort Studies; D004268:DNA-Binding Proteins / Q000378:metabolism; D015140:Dementia, Vascular / Q000453:epidemiology / Q000235:genetics; D005260:Female; D057180:Frontotemporal Dementia / Q000097:blood / Q000453:epidemiology* / Q000235:genetics*; D005820:Genetic Testing; D006306:Health Surveys; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000097:blood / Q000235:genetics*; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D015995:Prevalence; D000077153:Progranulins; D011506:Proteins / Q000378:metabolism; D012333:RNA, Messenger / Q000378:metabolism; D034702:RNA-Binding Protein FUS / Q000378:metabolism; D016875:tau Proteins / Q000378:metabolism
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; D011506:Proteins; D012333:RNA, Messenger; D034702:RNA-Binding Protein FUS; D016875:tau Proteins