Table 1.
Genes associated with amyotrophic lateral sclerosis.
| Year | Gene | Chromosomal locus | Mode of inheritance | Overlay | Probable functions |
|---|---|---|---|---|---|
| 2021 | SPTLC1 | 9q22.31 | AD | ALS; HSP; CMT | Sphingolipid synthesis |
| 2020 | WDR7 | 18q21 | Unknow | ALS | Calcium flux; neurotransmitter release |
| 2020 | CAV1 | 7q31.2 | Unknow | ALS | Intracellular calcium homeostasis |
| 2019 | GLT8D1 | 3p21.1 | AD | ALS | Ganglioside synthesis |
| 2019 | ARPP21 | 3p22.3 | Unknown | ALS | Toxic factor acts synergistically with GLT8D1 mutation |
| 2019 | DNAJC7 | 17q21.2 | AD/AR | ALS | Protein homeostasis |
| 2018 | KIF5A | 12q13.3 | AD | ALS; HSP; CMT2 | Intracellular traffic; axonal defect |
| 2017 | TIA1 | 2p13.3 | AD | ALS | TDP-43 accumulation; RNA metabolism |
| 2017 | ANXA11 | 10q22.3 | Unknown | ALS; FTD | Phospholipid and calcium-binding |
| 2016 | CCNF | 16p13.3 | AD | ALS; FTD | Autophagy; axonal defects; protein aggregation |
| 2016 | NEK1 | 4q33 | AD | ALS | Cell cycles; DNA damage repair; cilia formation |
| 2016 | C21ORF2(also known as CFAP410) | 21q22.3 | AD | ALS | Cilia formation; DNA damage repair; mitochondrial function |
| 2015 | TBK1 | 12q14.2 | AD | ALS; FTD | Autophagy; neuroinflammation |
| 2014 | CHCHD10 | 22q11.23 | AD | ALS; FTD; ataxia | Mitochondrial function |
| 2014 | MATR3 | 5q31.2 | AD | ALS; FTD | Ribostasis |
| 2014 | TUBA4A | 2q35 | AD | ALS; FTD | Cytoskeletal organization; axonal transport |
| 2013 | ERBB4 | 2q34 | AD | ALS | Neuronal development |
| 2013 | HNRNPA2B1 | 7p15 | AD; risk factor | ALS; myopathy; cognitive impairment | Ribostasis |
| 2013 | HNRNPA1 | 12q13:13 | AD; risk factor | ALS; myopathy; cognitive impairment | Ribostasis |
| 2012 | ATXN1 | 6p22.3 | risk factor | ALS | Nucleocytoplasmic transport |
| 2012 | EPHA4 | 2q36.1 | Unknown | ALS; ataxia | Axonal degeneration |
| 2012 | PFN1 | 17p13 | AD | ALS | Cytoskeletal organization; axonal grow and transport |
| 2011 | C9ORF72 | 9p21 | AD | ALS; FTD | Intracellular trafficking; autophagy; protein stasis; nucleocytoplasmic transport |
| 2011 | SQSTM1 | 5q35 | AD | ALS; FTD | Autophagy; neuroinflammation |
| 2011 | UBQLN2 | Xp11 | X-linked AD | ALS; FTD | Protein stasis |
| 2010 | SIGMAR1 | 9p13.3 | AD/AR | ALS; FTD | Proteasome impairment; intracellular trafficking |
| 2010 | ATXN2 | 12q24 | AD | ALS; SCA2 | Ribostasis |
| 2010 | OPTN | 10p13 | AD/AR | ALS; FTD | Autophagy; neuroinflammation |
| 2010 | SPG11 | 15q14 | AR | ALS; HSP; CMT | DNA damage |
| 2010 | VCP | 9p13 | AD | ALS; FTD | Protein stasis |
| 2006 | ANG | 14q11 | Risk factor | ALS; FTD | Angiogenesis |
| 2009 | Fig 4 | 6q21 | AD | ALS | Intracellular trafficking |
| 2009 | UNC13A | 19p13.11 | Unknown | ALS; FTD | synapse function |
| 2009 | ELP3 | 8p21 | Unknown | ALS | Ribostasis; cytoskeletal integrity |
| 2009 | FUS | 16p11 | AD/AR | ALS; FTD | Ribostasis |
| 2008 | TARDBP | 1p36 | AD/AR | ALS; FTD | Ribostasis |
| 2006 | CHMP2B | 3p11 | AD | ALS; FTD | Protein stasis; vesicular trafficking |
| 2004 | HFE | 6p22.2 | Unknown | ALS; Alzheimer’s disease; PD | Iron homeostasis |
| 2004 | VAPB | 20q13 | AD | ALS | Protein stasis |
| 2003 | DCTN1 | 2p13 | AD; risk factor | ALS | Axonal transport |
| 2001 | ALS2 | 2q33 | AR | ALS | Vesicular trafficking |
| 1998 | SETX | 9q34 | AD | ALS | Ribostasis |
| 1994 | NEFH | 22q12 | AD; risk factor | ALS | Axonal transport |
| 1993 | SOD1 | 21q22 | AD/AR | ALS | Protein stasis; oxidative stress |
AD, Autosomal dominant; AR, autosomal recessive; ALS, Amyotrophic Lateral Sclerosis; FTD, Frontotemporal Dementia; CMT2, Charcot–Marie-Tooth type 2 hereditary neuropathy; SCA2, Spinocerebellar Ataxia 2; HSP, Hereditary Spastic Paraplegia; PD, Parkinson’s disease.