| ALS | Amyotrophic lateral sclerosis |
| MND | Motor neuron diseases |
| UMN | Upper motor neurons |
| LMN | Lower motor neurons |
| fALS | Familial amyotrophic lateral sclerosis |
| sALS | Sporadic smyotrophic lateral sclerosis |
| SOD1 | Superoxide Dismutase 1 |
| C9orf72 | Chromosome 9 open reading frame 72 |
| TARDBP | TAR DNA binding protein |
| FUS | FUS RNA binding protein |
| CMT | Charcot-Marie-Tooth neuropathy |
| dHMN | Distal hereditary motor neuropathy |
| NGS | Next generation sequencing |
| ALS2 | Alsin Rho guanine nucleotide exchange factor |
| ANG | Angiogenin |
| DCTN1 | Dynactin subunit 1 |
| ERBB4 | Erb-B2 receptor tyrosine kinase 4 |
| FIG4 | FIG4 phosphoinositide 5-phosphatase |
| OPTN | Optineurin |
| PFN1 | Profilin 1 |
| SETX | Senataxin |
| SPAST | Spastin |
| SPG11 | Spatacsin vesicle trafficking associated |
| SQSTM1 | Sequestosome 1 |
| UBQLN2 | Ubiquilin 2 |
| VAPB | VAMP associated protein B and C |
| VCP | Valosin containing protein |
| DYNC1H1 | Dynein cytoplasmic 1 heavy chain 1 |
| GARS | Glycyl-tRNA synthetase |
| PLEKHG5 | Pleckstrin homology and RhoGEF domain containing G5 |
| SPG7 | Paraplegin matrix AAA peptidase subunit |
| BSCL2 | Seipin lipid droplet biogenesis associated |
| HSPB1 | Heat shock protein family B (Small) member 1 |
| HSPB3 | Heat shock protein family B (Small) member 3 |
| HSPB8 | Heat shock protein family B (Small) member 8 |
| MFN2 | Mitofusin 2 |
| TRPV4 | Transient receptor potential cation channel subfamily V member 4 |
| TBK1 | TANK-binding kinase 1 |
| HSP | Hereditary spastic paraplegia |
| dSMA | Distal spinal muscular atrophy |
| POAG | Primary open angle glaucoma |
| AOA2 | Ataxia with oculomotor apraxia type 2 |
| PEO | Progressive external ophthalmoplegia |
| AD | Alzheimer disease |
| FTD | Frontotemporal dementia |
| SMA-LED | Spinal muscular atrophy with predominance of lower extremity involvement |
| PEG | Percutaneous endoscopic gastrostomy |
| NIMV | Non-invasive mechanical ventilation |