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). This evidence concerns the gene PSEN1 and Lewy body dementia.