Nuclear and Mitochondrial Genetic Risk Factors in Frontotemporal Dementia

Frontotemporal dementia (FTD) is a complex dementing syndrome whose genetic/non genetic risk factors are mostly unknown.Aim of the present work was to investigate whether APOE and/or tau gene variability does affect the risk of FTD.A sample of FTD cases (sporadic: n = 54; familial: n = 46, one subject per family) was collected in a genetically homogeneous population (Calabria, southern Italy) and analyzed in comparison with an age-and sex-matched control group (n = 180) extracted from the same population.Logistic regression analysis showed that APOE gene variability affects the probability of disease, with allele ␧4 increasing (exp (β1) = 2.68 with [1.51-4.76]95% confidence interval; p = 0.001) and allele ␧2 decreasing (exp (β1) = 0.28 with [0.12-0.66]95% confidence interval; p = 0.003) the risk of FTD.On the contrary, tau gene variability was ineffectual (exp (β1) non significantly different from 1 for either H1 or H2 haplotypes), although a small effect was observed by the H1 haplotype in increasing the protective effect of the ␧2 allele (p = 0.007).