1. Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy
- Author
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Maria Anfossi, Francesca Frangipane, Sandra Marzano, Raffale Di Lorenzo, Francesco Comito, Alessandra Clodomiro, Maura Gallo, Vincenzo Valenti, Livia Bernardi, Sabrina A.M. Curcio, Danielle Moreno, Raffaele Maletta, Maria Mirabelli, Christine Sato, Ekaterina Rogaeva, Silvana Geracitano, Gianfranco Puccio, Maria Elena Conidi, Rosa Anna Leone, Mahdi Ghani, Zhengrui Xi, Rosanna Colao, Amalia C. Bruni, Chiara Cupidi, Peter St George-Hyslop, Nicoletta Smirne, Annelisa Borelli, and Maria Angela Zirilli
- Subjects
Male ,Aging ,Prevalence ,Cohort Studies ,0302 clinical medicine ,Progranulins ,Epidemiology ,Aged, 80 and over ,0303 health sciences ,education.field_of_study ,medicine.diagnostic_test ,General Neuroscience ,Age Factors ,Middle Aged ,3. Good health ,DNA-Binding Proteins ,Italy ,Frontotemporal Dementia ,Population study ,Intercellular Signaling Peptides and Proteins ,Female ,Alzheimer's disease ,Frontotemporal dementia ,medicine.medical_specialty ,Population ,tau Proteins ,Article ,03 medical and health sciences ,Alzheimer Disease ,Internal medicine ,mental disorders ,medicine ,Humans ,Genetic Testing ,RNA, Messenger ,education ,Psychiatry ,Vascular dementia ,030304 developmental biology ,Genetic testing ,Aged ,C9orf72 Protein ,business.industry ,Dementia, Vascular ,nutritional and metabolic diseases ,Proteins ,medicine.disease ,Health Surveys ,nervous system diseases ,Mutation ,RNA-Binding Protein FUS ,Neurology (clinical) ,Geriatrics and Gerontology ,business ,030217 neurology & neurosurgery ,Developmental Biology - 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.
- Published
- 2012