Several cases with PSEN1 mutations did not fulfill the AD diagnostic criteria (CERAD and NIA-Reagan criteria) but presented other disease phenotypes, such as frontotemporal dementia (FTD), progressive non-fluent aphasia or Pick’s disease and diseases with motor impairment, such as Parkinson’s disease (PD) and dementia with Lewy bodies (DLB). The gene discussed is PSEN1; the disease is frontotemporal dementia.