کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6808086 | 1433588 | 2012 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in Southern Italy
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
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چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Aging - Volume 33, Issue 12, December 2012, Pages 2948.e1-2948.e10
Journal: Neurobiology of Aging - Volume 33, Issue 12, December 2012, Pages 2948.e1-2948.e10
نویسندگان
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,