Amyotrophic lateral sclerosis-associated mutations in OPTN, which was previously implicated in glaucoma, were first identified in 2010 in six affected members of a Japanese pedigree with consanguineous marriages presenting with three different types of mutations: a homozygous deletion of exon 5, a homozygous nonsense p.Q398X mutation and a heterozygous missense p.E478G mutation (Maruyama et al., 2010). This evidence concerns the gene OPTN and amyotrophic lateral sclerosis.