Table 1

Major ALS/FTD genes

ALS/FTDGeneMutationProtein/functionDisease contribution
ALSSOD1MissenseSuperoxide dismutase 1/oxidative stressfALS 12%, sALS ∼1%
ALSOPNOptineurin/vesicle traffickingfALS <1%, sALS <1%
ALS/FTDC9orf72Non-coding GGGGCC expansionC9orf72/GDP-GTP nucleotide exchange factorfALS 40%, sALS 7%
sFTD 25%, sFTD 6%
ALS/FTDTARDBPMissense/nonsenseTDP-43/RNA-binding, processingfALS 5%, sALS <1%
fFTD 1%
ALS/FTDFUSMissense/nonsenseFUS/RNA-binding, processingfALS 4%, sALS <1%
ALS/FTDVCPMissenseValosin-containing protein/proteasome, vesicle traffickingfALS 1%
fFTD <1%
ALS/FTDUBQLN1MissenseUbiquilin-1/protein degradationX linked ALS/FTD <1%, sALS 2%
ALS/FTDSQSTM1Missense/deletionp62/protein degradationfALS ∼1%, sALS 4%
fFTD 2%
ALS/FTDCHMP2BMissenseCharged multivesicular protein 2B/vesicle traffickingfFTD <1%
FTDMAPTMissense and splice-siteTau/microtubule binding and stabilisationfFTD ∼10%
FTDGRNMissenseGranulin/tissue repairfFTD ∼20%, sFTD 5%
  • ALS, amyotrophic lateral sclerosis; FTD, frontotemporal dementia; FUS, fused in sarcoma; f, familial; GRN, granulin; MAPT, microtubule-associated protein tau; s, sporadic; VCP, valosin-containing protein.