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The Daily Utah Chronicle

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Researchers closer to delaying symptoms of degenerative brain disorder

By Deborah Rafferty, Staff Writer

New research is giving patients with a degenerative brain disorder a hope that one day they might be able to delay their symptoms.

An inherited neurodegenerative disorder, SCA2 causes a progressive deterioration of neurons in the cerebellum, which affects movement, balance and posture. Unlike other neurodegenerative diseases, there is no medicine to help delay the onset of its symptoms, such as loss of coordination and speech impairment.

“There is no known treatment in humans,” said Stefan Pulst, U chairman of neurology.For this (disorder), it is a progressive loss of specific functions. With (similar disorders such as) Parkinson’s disease, we have medications that help delay symptoms.”

In 1996, Pulst’s group discovered the gene that caused SCA2. Now, Pulst and his group of researchers, along with the University of Texas Southwestern Medical Center, are working to find a way to delay the disorder’s symptoms and eventually find a cure. They’ve found evidence showing that abnormal calcium signals in the brain play a central role in the patient’s development of SCA2.

“We found a mutated protein, the abnormal calcium in the cerebellum,” Pulst said. “Inappropriate levels of calcium impair proper function of the neurons.”

The abnormal calcium releases help kill neurons. In a recent study published July 27 in the Journal of Neuroscience, Ilya Bezprozvanny, associate professor of physiology at University of Texas Southwestern Medical Center, examined the possibility that a muscle relexant, dantrolene, could help delay patients’ symptoms of SCA2.

Pulst and his group then tested whether or not these results could be replicated in genetically modified mice. In their experiments, the researchers found dantrolene to be effective in delaying SCA2 symptoms in the mice. The genetically modified mice showed similar motor control and coordination to the normal mice without suffering significant adverse effects to the drug, said Pulst.

This is, however, only the beginning of more research to come. As in any study that tests out a new medicine, there are certain procedures that must be taken. While the mice showed no adverse effects to dantrolene, it might be a different case in humans. Before it can be released to the public, researchers now have to see if dantrolene is safe for human usage, decide the ethics of testing the drug, hold controlled clinical trials and then compare the results with that of a placebo group, said Pulst.

But Pulst is hopeful for the future.

“This is a complicated process,” he said. “We are a long way from finding a cure.”

But for the first time in history, humans are finding a treatment for SCA2 in humans, he said.

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