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. © 2012 Elsevier Inc..
Bernardi, L., Frangipane, F., Smirne, N., Colao, R., Puccio, G., Curcio, S. A. M., … Bruni, A. C. (2012). Epidemiology and genetics of frontotemporal dementia: A door-to-door survey in Southern Italy. Neurobiology of Aging, 33(12), 2948.e1-2948.e10. https://doi.org/10.1016/j.neurobiolaging.2012.06.017