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

被引：33

作者：

Bernardi, Livia ^{[1
]}

Frangipane, Francesca ^{[1
]}

Smirne, Nicoletta ^{[1
]}

Colao, Rosanna ^{[1
]}

Puccio, Gianfranco ^{[1
]}

Curcio, Sabrina A. M. ^{[1
]}

Mirabelli, Maria ^{[1
]}

Maletta, Raffaele ^{[1
]}

Anfossi, Maria ^{[1
]}

Gallo, Maura ^{[1
]}

Geracitano, Silvana ^{[1
]}

Conidi, Maria Elena ^{[1
]}

Di Lorenzo, Raffale ^{[1
]}

Clodomiro, Alessandra ^{[1
]}

Cupidi, Chiara ^{[1
]}

Marzano, Sandra ^{[2
]}

Comito, Francesco ^{[2
]}

Valenti, Vincenzo ^{[2
]}

Zirilli, Maria Angela ^{[2
]}

Ghani, Mahdi ^{[3
]}

Xi, Zhengrui ^{[3
]}

Sato, Christine ^{[3
]}

Moreno, Danielle ^{[3
]}

Borelli, Annelisa ^{[4
]}

Leone, Rosa Anna ^{[4
]}

St George-Hyslop, Peter ^{[3
,5
,6
,7
]}

Rogaeva, Ekaterina ^{[3
,5
]}

Bruni, Amalia C. ^{[1
]}

机构：

[1] ASPCZ, Ctr Reg Neurogenet, Lamezia Terme, Italy

[2] Unit Lab ASPRC Reggio Calabria, Reggio Di Calabria, Italy

[3] Univ Toronto, Tanz Ctr Res Neurodegenerat Dis, Toronto, ON, Canada

[4] ASPCZ, Microbiol Unit, Lamezia Terme, Italy

[5] Univ Toronto, Dept Med, Div Neurol, Toronto, ON, Canada

[6] Univ Cambridge, Cambridge Inst Med Res, Cambridge, England

[7] Univ Cambridge, Dept Clin Neurosci, Cambridge, England

来源：

NEUROBIOLOGY OF AGING | 2012年 / 33卷 / 12期

基金：

加拿大健康研究院; 英国惠康基金;

关键词：

Door-to-door study; Frontotemporal dementia; Gene; Progranulin; Mutation; Prevalence studies; LOBAR DEGENERATION; PROGRANULIN MUTATION; HEXANUCLEOTIDE REPEAT; NULL MUTATIONS; PREVALENCE; CHROMOSOME-17; VARIABILITY; POPULATION; PHENOTYPE; C9ORF72;

D O I：

10.1016/j.neurobiolaging.2012.06.017

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

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. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：2948.e1 / 2948.e10

页数：10

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