Soon after the observation of its pathology in sporadic ALS, coding mutations in TARDBP were shown to be causative of ALS in a rare number of dominantly inherited cases of familial ALS, introducing a complicated framework in which TDP-43 is both a pathological hallmark of sporadic ALS and functionally related to some, but not all familial causes of ALS pathogenesis (Kabashi et al., 2008; Sreedharan et al., 2008; Pesiridis et al., 2009). Here, TARDBP is linked to amyotrophic lateral sclerosis.