C9orf72 and amyotrophic lateral sclerosis: By assessing ALS mutation carriers (C9orf72, SOD1, and TARDBP), sporadic ALS and controls identified several proteins that were upregulated, including UCHL1, MAP2, CAPG, GPNMB, HIST1H4A, HIST1H2B, NEFL, NEFH, NEFM, CHIT1, and CHI3L1 in both spinal cord and CSF in ALS [52].