Frontotemporal lobar degeneration (FTLD) presents diverse clinical symptoms, including psychiatric, behavioral, and language symptoms. Pathologically, it is a collective term of heterogeneous neurodegenerative disorders characterized by deposits of aberrant proteins, including tau, TAR DNA-binding protein of 43kDa (TDP-43), and fused in sarcoma (FUS), predominately in frontotemporal lobes. Recent genetic research has identified several causal and susceptibility genes of FTLD. Moreover, there is an emerging correlation between the clinical-pathological phenotypes and genetic factors. Such knowledge would contribute to further clarification of the pathogenesis of FTLD and the development of novel therapeutic interventions.