Unraveling the mechanisms involved in motor neuron degeneration in ALS

LI Bruijn, TM Miller, DW Cleveland - Annu. Rev. Neurosci., 2004 - annualreviews.org
Annu. Rev. Neurosci., 2004annualreviews.org
▪ Abstract Although Charcot described amyotrophic lateral sclerosis (ALS) more than 130
years ago, the mechanism underlying the characteristic selective degeneration and death of
motor neurons in this common adult motor neuron disease has remained a mystery. There is
no effective remedy for this progressive, fatal disorder. Modern genetics has now identified
mutations in one gene [Cu/Zn superoxide dismutase (SOD1)] as a primary cause and
implicated others [encoding neurofilaments, cytoplasmic dynein and its processivity factor …
▪ Abstract 
Although Charcot described amyotrophic lateral sclerosis (ALS) more than 130 years ago, the mechanism underlying the characteristic selective degeneration and death of motor neurons in this common adult motor neuron disease has remained a mystery. There is no effective remedy for this progressive, fatal disorder. Modern genetics has now identified mutations in one gene [Cu/Zn superoxide dismutase (SOD1)] as a primary cause and implicated others [encoding neurofilaments, cytoplasmic dynein and its processivity factor dynactin, and vascular endothelial growth factor (VEGF)] as contributors to, or causes of, motor neuron diseases. These insights have enabled development of model systems to test hypotheses of disease mechanism and potential therapies. Along with errors in the handling of synaptic glutamate and the potential excitotoxic response this provokes, these model systems highlight the involvement of nonneuronal cells in disease progression and provide new therapeutic strategies.
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