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). This evidence concerns the gene C9orf72 and amyotrophic lateral sclerosis.