AANS Neurosurgeon | Volume 27, Number 3, 2018

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Defect in Debilitating Neurodegenerative Disease Reversed in Mouse Nerves

Drug compound may help against Charcot-Marie-Tooth disease

 

Scientists have developed a new drug compound that shows promise as a future treatment for Charcot-Marie-Tooth disease, an inherited, often painful neurodegenerative condition that affects nerves in the hands, arms, feet and legs. The researchers used the compound to treat the nerves of mice harboring the genetic defects that cause the disease.

The new study, from Washington University School of Medicine in St. Louis, challenges some conventional wisdom regarding how patients with this disease lose the ability to move their limbs.

Charcot-Marie-Tooth is the most common inherited degenerative disease of peripheral nerves. The disease affects about one in 2,500 individuals worldwide, and there are no treatments for it. The researchers studied a form of the condition called Charcot-Marie-Tooth disease type 2A, which is caused by specific genetic mutations.

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