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Gene Linked to Restless Leg Syndrome Found


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Many people with RLS also have family members with the disorder, suggesting a genetic component to the disease.

To locate any genetic variants that could be responsible for RLS, the researchers recruited 451 people who had symptoms of RLS, as well as 514 of their first-degree relatives.

The study volunteers filled out RLS questionnaires, had their periodic limb movements measured during sleep and gave blood samples.

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The researchers found one genetic variant was strongly associated with RLS with periodic limb movements. To validate these findings, the researchers then compared a second sample of 123 Icelandic study participants to 1,233 controls.

Overall, people with that particular genetic variant were 50 percent more likely to have RLS with periodic limb movements. Because the association was stronger in people with RLS and periodic limb movements than in those with just RLS, the researchers and Winkelman believe this genetic variant is likely one associated with periodic limb movements.

The researchers also found that iron levels were significantly decreased -- by as much as 26 percent -- in those with the genetic variant.

"Iron is important in the brain in the regulation of dopamine function. Dopamine is a neurotransmitter that's at least partially responsible for regulating sensation and movement," said Winkelman, who added that medications that increase dopamine activity in the brain, such as ropinirole (Requip) or pramipexole (Mirapex), are effective in treating RLS.

Both Winkelman and Zafarlotfi said that there's an increasing awareness in the medical community of RLS as a disorder, and that people should definitely bring it up with their physician if they're having symptoms.

"Even if you were rebuffed originally when describing your symptoms, try again," advised Winkelman. He said an appropriate assessment includes checking blood levels of iron and reviewing what medications you're taking.

Zafarlotfi pointed out that some common medications, such as antidepressants, may increase RLS symptoms.

More information

To learn more about restless leg syndrome, visit the RLS Foundation.

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Copyright © 2007 ScoutNews, LLC. All rights reserved.
Last updated 7/18/2007

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SOURCES: John Winkelman, M.D., Ph.D., medical director, Sleep Health Center, Brigham and Women's Hospital, and assistant professor, psychiatry, division of sleep medicine, Harvard Medical School, Boston; Susan Zafarlotfi, Ph.D., clinical director, Institute for Sleep-Wake Disorders and the Breath and Lung Institute, Hackensack University Medical Center, Hackensack, N.J.; July 19, 2007, New England Journal of Medicine


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