PSEN1 and neurodegenerative disease: Several PSEN1 mutation carriers did not present classical EOAD phenotypes, but other neurodegenerative diseases, such as FTD (such as Leu113Pro and Thr122Ala), DLB (such as Glu184Asp and Ala275Ser), PD, Parkinsonism, spastic paraparesis (such as Arg41Ser and Glu120Lys).