OPTN and amyotrophic lateral sclerosis: At present, missense mutations of OPTN, such as H26D, E50K, M98K, E322K, H486R and R545Q, were linked to POAG, and R96L, Q165X, Q398X, Q454E and E478G (X denotes a stop codon) mutations were identified from familial ALS patients12, 29 (Fig. 1a).