C9orf72 and amyotrophic lateral sclerosis: Furthermore, it has been described that mutations in C9ORF72 are related to neurodegeneration associated with ALS and it is suggested that autophagy plays an important role in this process because autophagy is altered in patients who exhibit C9ORF72 repeats, showing accumulated C9ORF72 foci positive for p62 in neuronal cells [171,172].