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Title: Estimating the inheritance of frontotemporal lobar degeneration in the Italian population
Authors: Borroni, Barbara
Grassi, Mario
Bianchi, Marta
Bruni, Amalia Cecilia
Maletta, Raffaele Giovanni
Anfossi, Maria
Pepe, Daniele
Cagnin, Annachiara 
Caffarra, Paolo
Cappa, Stefano
Clerici, Francesca
Daniele, Antonio
Frisoni, Giovanni B
Galimberti, Daniela
Parnetti, Lucilla
Perri, Roberta
Rainero, Innocenzo
Tremolizzo, Lucio
Turla, Marinella
Zanetti, Orazio
Padovani, Alessandro
Keywords: Frontotemporal dementia;frontotemporal lobar degeneration;genetics;heritability;inheritance
Mesh headings: Frontotemporal Lobar Degeneration;Inheritance Patterns
Secondary Mesh headings: Age of Onset;Aged;Female;Humans;Italy;Male;Middle Aged;Parents;Registries;Sex Factors
Issue Date: 2014
Publisher: IOS PRESS
Journal: Journal of Alzheimer's disease : JAD 
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.
ISSN: 1387-2877
DOI: 10.3233/JAD-130128
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