Several truncations/deletions or point mutations in SIGMAR1 generated distal hereditary motor neuropathy [28,29], while juvenile cases of ALS were associated with a missense mutation (c.304G>C, p.E102Q) and a frameshift mutation (c.283dupC, p.L95fs) in the SIGMAR1 gene sequence [30,31]. The gene discussed is SIGMAR1; the disease is amyotrophic lateral sclerosis.