Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in Southern Italy |
| |
| Authors: | Livia Bernardi Francesca Frangipane Nicoletta Smirne Rosanna Colao Gianfranco Puccio Sabrina A.M. Curcio Maria Mirabelli Raffaele Maletta Maria Anfossi Maura Gallo Silvana Geracitano Maria Elena Conidi Raffale Di Lorenzo Alessandra Clodomiro Chiara Cupidi Sandra Marzano Francesco Comito Vincenzo Valenti Maria Angela Zirilli Mahdi Ghani Zhengrui Xi Christine Sato Danielle Moreno Annelisa Borelli Rosa Anna Leone Peter St. George-Hyslop Ekaterina Rogaeva Amalia C. Bruni |
| |
| Affiliation: | 1. Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy;2. Unit of Laboratory ASPRC Reggio Calabria, Italy;3. Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada;4. Unit of Microbiology, ASPCZ, Lamezia Terme, Italy;5. Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario, Canada;6. Cambridge Institute for Medical Research, and the Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK |
| |
| 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. |
| |
| Keywords: | Door-to-door study Frontotemporal dementia Gene Progranulin Mutation Prevalence studies |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
