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). The gene discussed is PSEN1; the disease is frontotemporal dementia.