Previously, mutations in SOD1, ANG, FUS/TLS, TARDBP and CHMP2B have been identified in patients with a range of clinical phenotypes, including combinations of FTD, Parkinson’s disease, and ALS [14], [18], [22], [30], [31], [32], [33], [34], [35], [36], [37], [38], [39], [40], [41], [42], [43], [44], [45]. Here, CHMP2B is linked to amyotrophic lateral sclerosis.