While variants in PSEN1 and PSEN2 have been linked to clinical FTD phenotypes before, reports on this association are still rare.18 In the present study we identified one pathogenic PSEN1 splicing variant (c.869-2A>G; subject 19495) and one likely pathogenic PSEN2 missense variant (c.T713C:p.L238P; subject 18506). Here, PSEN2 is linked to frontotemporal dementia.