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CMT2A: Towards the End of a Therapeutic Deadlock?
18 février 2025
#Neurology #CharcotDisease #Neuropathy #CMT2A #MFN2
Charcot-Marie-Tooth disease type 2A (CMT2A) is a rare hereditary sensorimotor neuropathy caused by mutations in the MFN2 gene. Essential for mitochondrial fusion and the proper functioning of peripheral neurons, this protein plays a key role in nerve signal transmission. Its mutation leads to an energy dysfunction in nerve cells and progressive degeneration of peripheral nerves. This alteration manifests as progressive muscle weakness and sensory disturbances.
Charcot-Marie-Tooth disease type 2A (CMT2A) is a rare hereditary sensorimotor neuropathy caused by mutations in the MFN2 gene. Essential for mitochondrial fusion and the proper functioning of peripheral neurons, this protein plays a key role in nerve signal transmission. Its mutation leads to an energy dysfunction in nerve cells and progressive degeneration of peripheral nerves. This alteration manifests as progressive muscle weakness and sensory disturbances.
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Scientific reference
Alberti, C., et al. (2024). Charcot-Marie-tooth disease type 2A: an update on pathogenesis and therapeutic perspectives. Neurobiology of Disease, 106467
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