Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in adults involving non-demyelinating motor disorders. About 90% of ALS cases are sporadic, while 10–12% of cases are due to some genetic reasons. Mutations in superoxide dismutase 1 (SOD1), TAR, c9orf72 (chromosome 9 open reading frame 72) and VAPB genes are commonly found in ALS patients. Therefore, the mechanism of ALS development involves oxidative stress, endoplasmic reticulum stress, glutamate excitotoxicity and aggregation of proteins, neuro-inflammation and defective RNA function. Cholesterol and LDL/HDL levels are also associated with ALS development. As a result, sterols could be a suitable biomarker for this ailment. The main mechanisms of ALS development are reticulum stress, neuroinflammation and RNA metabolism. The multi-nature development of ALS makes it more challenging to pinpoint a treatment.
Citation: Ashok Chakraborty, Anil Diwan. Biomarkers and molecular mechanisms of Amyotrophic Lateral Sclerosis[J]. AIMS Neuroscience, 2022, 9(4): 423-443. doi: 10.3934/Neuroscience.2022023
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in adults involving non-demyelinating motor disorders. About 90% of ALS cases are sporadic, while 10–12% of cases are due to some genetic reasons. Mutations in superoxide dismutase 1 (SOD1), TAR, c9orf72 (chromosome 9 open reading frame 72) and VAPB genes are commonly found in ALS patients. Therefore, the mechanism of ALS development involves oxidative stress, endoplasmic reticulum stress, glutamate excitotoxicity and aggregation of proteins, neuro-inflammation and defective RNA function. Cholesterol and LDL/HDL levels are also associated with ALS development. As a result, sterols could be a suitable biomarker for this ailment. The main mechanisms of ALS development are reticulum stress, neuroinflammation and RNA metabolism. The multi-nature development of ALS makes it more challenging to pinpoint a treatment.
Alzheimer's Disease
ATXN2 Gene-Product
Amyotrophic Lateral Sclerosis
Hereditary spastic paralysis
α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid
Low Density Lipoprotein
Ataxia with Oculomotor Apraxia Type 2
Metalloproteinase-2
Familial ALS
Metalloproteinase-9
Sporadic ALS
Neurofilament Light Chain
Apolipoprotein E
α-Amino-3-Hydroxy-5-Methyl-4-Isoxazole-propionic Acid
ATXN2 Gene-Product
Parkinson's Disease
C-C Chemokine Receptor Type 2
Phosphorylated Neurofilament Heavy Chain
Chromosome 9 Open Reading Frame 72
Optineurin
Charcot-Marie-Tooth disease type 4
CD134 (TNFRSF4)
C-Reactive Protein
Primary lateral sclerosis
Cerebrospinal Fluid
RNA-binding protein
Frontotemporal Dementia
Ribonucleic acid
Enzyme-Linked Immunosorbent Assay
Reactive Oxygen Species
Extracellular Matrix Metalloproteinase Inducer
Spinocerebellar Ataxia, Autosomal Recessive 1
U.S. Food and Drug Administration
Spinal muscular atrophy
FIG4 Phosphoinositide 5-Phosphatase
Superoxide Dismutase 1
Frontotemporal disorder
TAR DNA-Binding Protein 43
Frontotemporal lobar degeneration
TAR DNA Binding Protein
Fused in Sarcoma
Tumor Necrosis Factor-
Granulocyte Macrophage Colony Stimulating Factor
Vesicle-associated Membrane Protein-associated Protein B
High-density lipoprotein
Valosin Containing Protein
High Density Lipoprotein
Wiskott–Aldrich syndrome protein
Apolipoprotein E
Wide Range C-Reactive Protein
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