Major ALS/FTD genes
| ALS/FTD | Gene | Mutation | Protein/function | Disease contribution |
|---|---|---|---|---|
| ALS | SOD1 | Missense | Superoxide dismutase 1/oxidative stress | fALS 12%, sALS ∼1% |
| ALS | OPN | Optineurin/vesicle trafficking | fALS <1%, sALS <1% | |
| ALS/FTD | C9orf72 | Non-coding GGGGCC expansion | C9orf72/GDP-GTP nucleotide exchange factor | fALS 40%, sALS 7% sFTD 25%, sFTD 6% |
| ALS/FTD | TARDBP | Missense/nonsense | TDP-43/RNA-binding, processing | fALS 5%, sALS <1% fFTD 1% |
| ALS/FTD | FUS | Missense/nonsense | FUS/RNA-binding, processing | fALS 4%, sALS <1% |
| ALS/FTD | VCP | Missense | Valosin-containing protein/proteasome, vesicle trafficking | fALS 1% fFTD <1% |
| ALS/FTD | UBQLN1 | Missense | Ubiquilin-1/protein degradation | X linked ALS/FTD <1%, sALS 2% |
| ALS/FTD | SQSTM1 | Missense/deletion | p62/protein degradation | fALS ∼1%, sALS 4% fFTD 2% |
| ALS/FTD | CHMP2B | Missense | Charged multivesicular protein 2B/vesicle trafficking | fFTD <1% |
| FTD | MAPT | Missense and splice-site | Tau/microtubule binding and stabilisation | fFTD ∼10% |
| FTD | GRN | Missense | Granulin/tissue repair | fFTD ∼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.