دورية أكاديمية
Estimating the inheritance of frontotemporal lobar degeneration in the Italian population
| العنوان: | Estimating the inheritance of frontotemporal lobar degeneration in the Italian population |
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| المؤلفون: | B. Borroni, M. Grassi, M. Bianchi, A. C. Bruni, R. G. Maletta, M. Anfossi, D. Pepe, A. Cagnin, P. Caffarra, S. Cappa, F. Clerici, A. Daniele, G. B. Frisoni, L. Parnetti, R. Perri, I. Rainero, L. Tremolizzo, M. Turla, O. Zanetti, A. Padovani, D. Galimberti |
| المساهمون: | B. Borroni, M. Grassi, M. Bianchi, A.C. Bruni, R.G. Maletta, M. Anfossi, D. Pepe, A. Cagnin, P. Caffarra, S. Cappa, F. Clerici, A. Daniele, G.B. Frisoni, D. Galimberti, L. Parnetti, R. Perri, I. Rainero, L. Tremolizzo, M. Turla, O. Zanetti, A. Padovani |
| بيانات النشر: | IOS Press |
| سنة النشر: | 2014 |
| المجموعة: | The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| مصطلحات موضوعية: | Frontotemporal dementia, frontotemporal lobar degeneration, genetic, heritability, inheritance, Age of Onset, Aged, Female, Human, Italy, Male, Middle Aged, Parent, Registrie, Sex Factor, Inheritance Pattern, Medicine (all), Settore MED/26 - Neurologia |
| الوصف: | Frontotemporal dementia (FTD) has a strong genetic basis, with familial forms occurring in 30-50% of cases. Causative genes have been identified, with an autosomal dominant pattern of inheritance. Notwithstanding, in a number of cases with positive family history no pathogenetic mutation has been reported, and the role of genetics in sporadic cases is still unclear. In the present study, we aim to estimate the genetic contribution to FTD using concordance among parent-offspring pairs. Heritability of early-onset (EO, <65 years) and late-onset (LO, ≥65 years) FTD was estimated by examining the concordance between parents and offspring. Probands with at least one parent whose dementia status was known were recruited from 15 Italian centers, and the presence or absence of dementia was considered in siblings. Different prevalence estimates, as available by literature data, were tested. A total of 260 probands and 1619 family members were considered in this study. We found that parent-offspring concordance in FTD was 6.25%, resulting in hereditability of 98.5% (95% confidence interval (CI): 85.0%-100.0%). Equal heritability for both sexes regardless of parental gender was reported. EO-FTD showed hereditability of 86.3% (95% CI: 77.0%-95.0%) and LO-FTD of 75.7% (95% CI: 65.0%-86.0%). Estimating the contribution of genetics in FTD may help in driving future genetic studies to identify new pathogenetic determinants. We suggest that in most of the cases FTD is a genetic-based disease, even in the elderly. Different inheritance modality might be considered in future work, beyond autosomal dominant disease. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/23719513; info:eu-repo/semantics/altIdentifier/wos/WOS:000337918000004; volume:41; issue:2; firstpage:371; lastpage:376; numberofpages:6; journal:JOURNAL OF ALZHEIMER'S DISEASE; http://hdl.handle.net/2434/514438Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84927566601 |
| DOI: | 10.3233/JAD-130128 |
| الإتاحة: | https://doi.org/10.3233/JAD-130128Test http://hdl.handle.net/2434/514438Test |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.D582F905 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3233/JAD-130128 |
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