OPTN and amyotrophic lateral sclerosis: Abnormal protein aggregates are a hallmark of ALS pathology, in addition to this, mutations in several genes involved autophagy have been associated with ALS including SQSTM1 (encodes p62), SOD1, OPTN, VCP, UBQLN2 and most recently TBK1. This suggests that disruption of autophagy is important in ALS pathophysiology [1, 50].