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Gene Locus Found For Essential Tremor Disorder

Researchers from the National Institute of Neurological Disorders and Stroke have located a gene locus responsible for the most common human movement disorder, essential tremor (ET). In an article in the November 1997 issue of Movement Disorders, Joseph J. Higgins, M.D., Lana T. Pho, and Linda E. Nee, M.S.W., report how they traced the gene to the short arm of chromosome 2 (1).

"This is an important advance for a disorder that affects millions of Americans," says Zach W. Hall, Ph.D., Director of the National Institute of Neurological Disorders and Stroke. "It will lead the way to discovery of the gene, which should help us better understand the basis for this disabling condition."

ET is characterized mainly by tremor of the arms, but the head, neck and voice may also be involved. About 4 million Americans have this bothersome and sometimes disabling inherited disorder. ET affects approximately 1 to 6 percent of the adult population over the age of 40.

"The participation of an American family that has been disabled by tremor for five generations permitted us to employ a research technique called linkage analysis to locate the vicinity of an ET gene," says Dr. Higgins. "This finding lays the foundation for future research aimed at identifying the cause of ET. And it may eventually further our understanding of why people shake and benefit individuals with tremor through better diagnosis and treatment."

The discovery of a genetic susceptibility locus for ET is the first step toward finding the cause of the disabling neurologic condition. ET is commonly mistaken for Parkinson's disease, but is more common than Parkinson's. At the present time, there is no cure for ET and the only available treatments are medications such as the anti-seizure medication primidone and the beta-adrenergic blocking agent propranolol. Extreme cases of ET sometimes require surgery. These therapies offer only partial relief from the symptoms of ET and may have disturbing
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Contact: Marcia Vital
301/496-5751
NIH/National Institute of Neurological Disorders and Stroke
7-Nov-1997


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