Multiple studies have identified several dominant mutations in the 43-kDa trans-activating response region (TAR) DNA-binding protein (TDP-43) in both sporadic and familial ALS patients that are associated with other NDDs (Kabashi et al., 2008; Sreedharan et al., 2008; Pesiridis et al., 2009; Lagier-Tourenne et al., 2010). The gene discussed is TARDBP; the disease is amyotrophic lateral sclerosis.