Table 1.
List of genes involved in ALS and FTD pathologies.
| Gene | Locus | Mutations | First description of the gene |
|---|---|---|---|
| ANG (Angiogenin) | 14q11.2 | 86 | Fett et al. (45) |
| ATXN2 (Ataxin 2) | 12q24.12 | 60 | Gispert et al. (46) |
| C9orf72 (chromosome 9 open reading frame 72) | 9p21.2 | 161 | DeJesus- Hernandez et al. (30) |
| CHCHD10 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10) | 22q11.23 | 205 | Bannwarth et al. (47) |
| CHMP2B (Charged Multivesicular Body Protein 2B) | 3p11.2 | 110 | Babst et al. (48) (Vps2 hortolog of CHMP2B) |
| DCTN1 (Dynactin Subunit 1) | 2p13.1 | 565 | Holzbaur et al. (49) |
| FUS (FUS RNA binding protein) | 16p11.2 | 323 | Crozat et al. (50) |
| GRN (Granulin Precursor) | 17q21.31 | 302 | Zhou et al. (51) |
| MAPT (microtubule associated protein tau) | 17q21.31 | 465 | Goedert et al. (52) |
| MATR3 (Matrin 3) | 5q31.2 | 249 | Belgrader et al. (53) |
| NEK1 (NIMA Related Kinase 1) | 4q33 | 418 | Letwin et al. (54) |
| OPTN (Optineurin) | 10p13 | 240 | Li et al. (55) |
| PFN1 (Profilin 1) | 17p13.2 | 70 | Carlsson et al. (56) |
| SETX (Senataxin) | 9q34.13 | 941 | Moreira et al. (57) |
| SOD1(Superoxide dismutase 1) | 21q22.11 | 208 | Rosen et al. (41) |
| SPG11 (Spatacsin) | 15q21.1 | 1494 | Stevanin et al. (58) |
| SQSTM1 (Sequestosome 1) | 5q35.3 | 383 | Park et al. (59) |
| TARDBP (TAR DNA Binding Protein) | 1p36.22 | 214 | Ou et al. (60) |
| TBK1 (TANK Binding Kinase 1) | 12q14.2 | 206 | Pomerantz and Baltimore (61) |
| VCP (valosin containing protein) | 9p13.3 | 356 | Koller and Brownstein (62) |
Genes are reported with the corresponding locus, numbers of known mutations and reference of the first description.