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. 2012 Dec;33(12):2948.e1-2948.e10.
doi: 10.1016/j.neurobiolaging.2012.06.017. Epub 2012 Jul 20.

Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy

Livia Bernardi #  1 , Francesca Frangipane #  1 , Nicoletta Smirne #  1 , Rosanna Colao  1 , Gianfranco Puccio  1 , Sabrina Am Curcio  1 , Maria Mirabelli  1 , Raffaele Maletta  1 , Maria Anfossi  1 , Maura Gallo  1 , Silvana Geracitano  1 , Maria Elena Conidi  1 , Raffale Di Lorenzo  1 , Alessandra Clodomiro  1 , Chiara Cupidi  1 , Sandra Marzano  2 , Francesco Comito  2 , Vincenzo Valenti  2 , Maria Angela Zirilli  2 , Mahdi Ghani  3 , Zhengrui Xi  3 , Christine Sato  3 , Danielle Moreno  3 , Annelisa Borelli  4 , Rosa Anna Leone  4 , Peter St George-Hyslop  3   5   6 , Ekaterina Rogaeva  3   5 , Amalia C Bruni  1
Affiliations

Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy

Livia Bernardi et al. Neurobiol Aging. 2012 Dec.

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.

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Conflict of interest statement

statement All authors report no disclosures and no actual or potential conflicts of interest.

Figures

Figure 1
Figure 1
A. Plasma GRN levels in FTD mutated patients and controls; B. Age at onset in GRN_positive and GRN_negative patients
Figure 2
Figure 2
Symptoms and neurological signs at onset in the GRN mutations carriers (in the FTD patients)
Figure 3
Figure 3
Symptoms and neurological signs at manifest stage in the GRN mutation carriers (in FTD patients)
See this image and copyright information in PMC

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