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Duke researchers link newly discovered gene to hereditary neurological disease

Durham, N.C. Scientists have linked a recently discovered gene to a rare nervous system disease called hereditary spastic paraplegia, for which there is no cure.

The discovery could lead to development of drugs that target the defective gene, said the researchers at Duke University Medical Center who discovered the mutation.

The gene defect accounts for 6 percent to 7 percent of all cases of hereditary spastic paraplegia, they said. The discovery of the gene defect will provide important insights into the causes of other major neurodegenerative diseases, including amyotrophic lateral sclerosis or Lou Gehrig's disease, said Stephan Zchner, M.D., assistant professor at the Duke Center for Human Genetics and the Department of Psychiatry.

"Patients with these genetic diseases now have no real treatment options," said Zchner, co-leader of the study team. "Our discovery will open up a new opportunity to study these diseases from a different angle so we can better understand what is causing them and which genes to target in developing treatments to manage them."

The researchers report their findings in the August 2006 issue of the American Journal of Human Genetics, which is now available online. The research was funded by the National Institutes of Health and by donations to the Duke Center for Human Genetics from individuals and families affected by hereditary spastic paraplegia.

Hereditary spastic paraplegia, one of a number of related inherited disorders, causes progressive limb weakness and stiffness, often resulting in paralysis. As with many neurodegenerative diseases, patients typically begin to show symptoms during their mid-20s to mid-50s, and the symptoms grow progressively more debilitating with time. With no cure available, physicians can only treat symptoms with physical therapy to improve muscle strength and preserve range of motion.

In their study, the Duke researchers found that one form
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Contact: Becky Levine
levin005@mc.duke.edu
919-684-4148
Duke University Medical Center
13-Jul-2006


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