Experimental spinal treatment may help people with paralyzed hereditary disordersExBulletin

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Experimental treatments that stimulate the spinal cord can be useful for people with paralyzed hereditary disorders. NPR's Jon Hamilton reports on a study of three people with rare genetic conditions that waste muscle.

John Hamilton, Byline: Doug McCullough was 11 years old when he was diagnosed with spinal muscular atrophy or SMA, a disorder that kills motor neurons in the spinal cord. McCullough is currently in his 50s and relies on two canes or wheelchairs.

Doug McCullough: As someone with progressive illness, you will never get better. You're keeping it or getting worse.

Hamilton: McCullough was low when he signed up for a four-week experiment at the University of Pittsburgh School of Medicine. There, a scientist transplanted a wire temporarily into his spine. Later, in the lab, they began supplying pulses of electricity to certain nerves.

McCullough: That first afternoon, do you feel something? You are, no. And they will start to raise it a little, then you will start to feel this faint pulse in your body.

Hamilton: Specifically on his feet. And during the experiment, McCullough's feet regained some function. He could walk far. His walking was good. His legs felt strong even when the spinal stimulator wasn't connected.

McCullough: And a few days later, my legs felt over-gassed. It feels like a man, I can walk a mile.

Hamilton: Two other volunteers at SMA have also improved. The youngest person was 20 years old, says Marco Caporosso, one of the scientists in charge of the experiment.

Marco Capogrosso: He improved so much that he was able to walk from the family home where they were staying for trial to our lab, and he would do it before I couldn't.

Hamilton: There are currently medications that delay or stop the loss of motor neurons in SMA patients. However, treatment does not restore lost muscle function. Capo Grosso's team used spinal stimulation to increase the strength of the arms of stroke patients, but they believed that the approach could work on the leg muscles of people with SMA. In both cases, the idea was to get more from a relatively small number of neurons that remained intact. Capo Grosso says the results for patients with SMA were astounding.

Capogrosso: On Friday, they come to the lab, do their tests, then go home. Then on Monday they returned. We reassess their strength as they did it every day. And suddenly, they had 20% more strength in the knee extension.

Hamilton: Many of the improvements were maintained even when the stimulation device was not turned on. Capogrosso believes this is because the stimulation helped to reestablish communication between the remaining motor neurons and other neurons involved in the circuits that allow walking.

Capogrosso: They have far fewer motor neurons remaining, as some of them have died. But now they were beginning to work as normal motor neurons. Therefore, this increase in intensity we observed was because their cells were suitable for controlling their muscles.

Hamilton: The results published in Nature Medicine magazine support the idea proposed in 2011 by George Mentis of Columbia University.

George Mentis: Until then, what people were thinking was that this was really motor neuron disease. Motion neurons will correct the disease.

Hamilton: But Mentis shows that in mice with SMA, this disease disrupts connections between motor neurons and communicates sensory neurons to monitor when it contracts and what that muscle is doing I did. Mentis says the Pittsburgh results suggest that spinal cord stimulation can improve these connections and make a huge difference for people with SMA.

Mentis: During that month of electrical stimulation, we never reached the plateau. They were still improving. Obviously you'll tell me, oh my god, can they improve now? The preliminary data says “Yes.”

Hamilton: Mentis says spinal cord stimulation may help people with other illnesses that affect movements, such as ALS and Parkinson's disease. John Hamilton, NPR News.

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