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Trends Neurosci. 2014 Aug;37(8):433-42. doi: 10.1016/j.tins.2014.05.006. Epub 2014 Jun 11.

Advances in treating amyotrophic lateral sclerosis: insights from pathophysiological studies.

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Westmead Clinical School, University of Sydney, Sydney, Australia; Neurosciences Research Australia, Sydney, Australia. Electronic address:
Brain Science Institute, Robert Packard Center for Amyotrophic Lateral Sclerosis Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Neurosciences Research Australia, Sydney, Australia; Brain and Mind Research Institute, University of Sydney, Sydney, Australia.


Amyotrophic lateral sclerosis (ALS) is the most frequently occurring of the neuromuscular degenerative disorders, with a median survival time of 3-5 years. The pathophysiological mechanisms underlying ALS are multifactorial, with a complex interaction between genetic factors and molecular pathways. To date 16 genes and loci have been associated with ALS, with mutations in DNA/RNA-regulating genes including the recently described c9orf72 (chromosome 9 open reading frame 72) gene, suggesting an important role for dysregulation of RNA metabolism in ALS pathogenesis. Further, dysfunction of molecular pathways, including glutamate-mediated excitotoxicity, has been identified in sporadic and familial ALS, indicating the existence of a common pathogenic pathway. These pathophysiological insights have suggested novel therapeutic approaches, including stem cell and genetics-based strategies, providing hope for feasible treatment of ALS.

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