The dual effects of defective autophagy on cellular development and maintenance in EPG5-related Vici syndrome are particularly pertinent on the level of the CNS, where the present study provides evidence for a neurodegenerative component evolving in the context of a neurodevelopmental defect, also supported by findings of a neuropathological phenotype resembling human amyotrophic lateral sclerosis in the Epg5 knockout mouse (Zhao et al., 2013a). The gene discussed is EPG5; the disease is amyotrophic lateral sclerosis.