Additional ALS mutations in OPTN were subsequently identified in ALS patients: R96L (37), Q165X (38), A136V (39), K395K (39), I451T (39), E516Q (39), and Q454E (38) (a full list of ALS-associated mutations in OPTN is detailed in Table 2). This evidence concerns the gene OPTN and amyotrophic lateral sclerosis.