Multiple studies have also identified C-terminally truncated isoforms of TDP-43 (Wang et al., 2002, 2004; Polymenidou et al., 2011; Herskowitz et al., 2012; D'Alton et al., 2015), but their expression at the protein level and relevance to ALS/FTLD pathogenesis have not been fully characterized. This evidence concerns the gene TARDBP and amyotrophic lateral sclerosis.