Mutations in TDP-43 have been identified in familial and sporadic cases of ALS and FTLD-TDP, mainly in the C-terminal glycine-rich region, including the M337V mutation caused by an alteration of an adenine (A) to guanine (G) at position 1009 of TARDBP cDNA [3], [11], [12], [13], [14], [15], [16]. The gene discussed is TARDBP; the disease is amyotrophic lateral sclerosis.