However, despite the lack of knowledge around the specific molecular pathways downstream to loss of functional C9orf72, or gain of toxic C9orf72 driven activity, both mechanisms are, presumably, contributing to ALS pathogenesis to some extent, and the evidence discussed above supports the existence of complex and profound implications of C9orf72 pathology on cellular homeostasis and neuronal integrity. The gene discussed is C9orf72; the disease is amyotrophic lateral sclerosis.