TARDBP and amyotrophic lateral sclerosis: Importantly, the identification of several missense mutations in the TARDBP sequence in familial cases of both ALS and FTLD [24,25], most of which (~90%) occurred in the region coding for CTD and promoted the intrinsic aggregation of the protein, provided an exciting link between the pathophysiology of apparently sporadic and familial diseases and contributed to unveiling pathological molecular pathways [24].