Abstract
Cellular and molecular mechanisms of motor neuron death in amyotrophic lateral sclerosis: a perspective.
Highlights
Amyotrophic lateral sclerosis (ALS), which was described since 1869 by Jean Martin Charcot, is a devastating neurodegenerative disease characterized by the selective and progressive loss of upper and lower motor neurons of the cerebral cortex, brainstem and the spinal cord
The only known cause of the disease is associated with genetic mutations, mainly in the gene encoding superoxide dismutase 1 (SOD1) which is the most frequent case of familial ALS (FALS), representing about 20% of cases of FALS, albeit over one hundred mutations have been described in FALS
Both ALS types show similar histopathological and clinical characteristics, and in spite of numerous investigations using tissue from ALS patients and relevant advances in the design of several experimental models of motor neuron degeneration, it has not been possible to establish a clear cause-effect relationship regarding the loss of motor neurons or the motor alterations characteristic of the disease, such as fasciculations, spasticity, and progressive paralysis
Summary
Amyotrophic lateral sclerosis (ALS), which was described since 1869 by Jean Martin Charcot, is a devastating neurodegenerative disease characterized by the selective and progressive loss of upper and lower motor neurons of the cerebral cortex, brainstem and the spinal cord. Both ALS types show similar histopathological and clinical characteristics, and in spite of numerous investigations using tissue from ALS patients and relevant advances in the design of several experimental models of motor neuron degeneration, it has not been possible to establish a clear cause-effect relationship regarding the loss of motor neurons or the motor alterations characteristic of the disease, such as fasciculations, spasticity, and progressive paralysis.
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