C9orf72 protein levels are also reduced in patient tissue (DeJesus-Hernandez et al., 2011; Belzil et al., 2013; Waite et al., 2014), suggesting a possible role for haploinsufficiency and defective autophagy in C9orf72-ALS. The gene discussed is C9orf72; the disease is amyotrophic lateral sclerosis.