Among the PSEN1 mutations identified in Taiwanese ADAD patients, the pathogenicity of the p.Pro117Leu, p.Met146Ile, p.Gly206Asp, p.Gly209Glu, p.Glu280Lys and p.Leu286Val mutations has been confirmed in AD patients of other ethnic backgrounds26–32, while two mutations (p.Arg157Ser and p.His131Arg) were mutations with limited literature reports (Table 1 and Supplementary table S1). Here, PSEN1 is linked to Alzheimer disease.