Skip to main content
. 2020 May 8;21(9):3346. doi: 10.3390/ijms21093346
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