Gene Link to Tourette's Syndrome Found

Discovery May Help Scientists Understand Tourette's Syndrome

Medically Reviewed by Louise Chang, MD on October 13, 2005
From the WebMD Archives

Oct. 13, 2005 -- Scientists have identified a rare gene mutation that could contribute to Tourette's syndrome.

Tourette's syndrome is a brain disorder characterized by persistent tics, which are involuntary movements or vocalizations. It affects up to one in 100 people, write the researchers. They included Yale University's Matthew State, MD.

Tourette's syndrome isn't fatal, but it can be debilitating. It's often accompanied by other brain conditions, such as obsessive-compulsive disorder, attention deficit hyperactivity disorder (ADHD), or depression, write State and colleagues.

Their report appears in Science's online edition.

Gene Clue

State's team focused on a gene called SLITRK1. They noticed a glitch in that gene in one patient who had Tourette's syndrome and ADHD.

Next, the researchers screened the genes of 174 other Tourette's patients. One patient had an SLRTK1 glitch. So did that patient's mother, who had a hair-pulling disorder called trichotillomania.

Two other unrelated patients who had Tourette's and obsessive-compulsive symptoms also had rare abnormalities in the same gene.

A Rare Genetic Mutation

"We now have rare mutations, expression, and functional data, all supporting a role for this gene in Tourette's syndrome," says State, in a news release.

"This finding could provide an important clue in understanding Tourette's on a molecular and cellular level," he continues.

"Confirming this, in even a small number of additional Tourette's syndrome patients, will pave the way for a deeper understanding of the disease process," says State.

Show Sources

SOURCES: Abelson, J. Science, Oct. 14, 2005; vol 310: pp 317-320. News release, Yale University. WebMD Medical Reference from Healthwise: "Trichotillomania."
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