The APP, PSEN1 and PSEN2 mutation screening in 1431 AD patients and 809 control individuals identified known pathogenic mutations in 5.7% of EOAD (16/280) and 0.3% of LOAD (4/1151) patients and in 0.12% (1/809) of the controls, in line with what it is usually observed [4, 5]. Here, PSEN1 is linked to Alzheimer disease.