In autopsy studies, brains from C9+ patients exhibited the neuronal loss, gliosis, and TDP-43 inclusions characteristic of sporadic ALS and some FTD patients (5), as well as the nuclear RNA foci and cytoplasmic aggregates of dipeptide repeat (DPR) proteins specific to the C9orf72 mutation (5, 6). The gene discussed is C9; the disease is amyotrophic lateral sclerosis.