Gene Locus Found For Essential Tremor Disorder

November 07, 1997

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 side effects. Many people prefer to live with the tremor rather than experience the discomfort of medication side effects.

"With President Clinton asking for more volunteerism in America, we can look with gratitude to the families who volunteer for neurogenetic studies," says Ms. Nee. "The progress in finding a marker for an ET gene is a tribute to these families. This discovery would not have been possible without the collaboration of concerned individuals who donated their time and blood for genetic studies."

The NINDS, one of the National Institutes of Health located in Bethesda, Maryland, is the nation?s leading supporter of research on the brain and nervous system and a lead agency for the Congressionally designated Decade of the Brain.

(1) Higgins, Joseph J., Pho, Lana T., and Nee, Linda E. "A gene (ETM) for essential tremor maps to chromosome 2p22-p25." Movement Disorders, Vol. 12(6), 1997, pp. 859-864.

###





This release will be available on the World Wide Web at { http://www.ninds.nih.gov }.

NIH/National Institute of Neurological Disorders and Stroke

Related Stroke Articles from Brightsurf:

Stroke alarm clock may streamline and accelerate time-sensitive acute stroke care
An interactive, digital alarm clock may speed emergency stroke care, starting at hospital arrival and through each step of the time-sensitive treatment process.

Stroke patients with COVID-19 have increased inflammation, stroke severity and death
Stroke patients who also have COVID-19 showed increased systemic inflammation, a more serious stroke severity and a much higher rate of death, compared to stroke patients who did not have COVID-19, according a retrospective, observational, cross-sectional study of 60 ischemic stroke patients admitted to UAB Hospital between late March and early May 2020.

'Time is vision' after a stroke
University of Rochester researchers studied stroke patients who experienced vision loss and found that the patients retained some visual abilities immediately after the stroke but these abilities diminished gradually and eventually disappeared permanently after approximately six months.

More stroke awareness, better eating habits may help reduce stroke risk for young adult African-Americans
Young African-Americans are experiencing higher rates of stroke because of health conditions such as high blood pressure, diabetes and obesity, yet their perception of their stroke risk is low.

How to help patients recover after a stroke
The existing approach to brain stimulation for rehabilitation after a stroke does not take into account the diversity of lesions and the individual characteristics of patients' brains.

Kids with headache after stroke might be at risk for another stroke
A new study has found a high incidence of headaches in pediatric stroke survivors and identified a possible association between post-stroke headache and stroke recurrence.

High stroke impact in low- and middle-income countries examined at 11th World Stroke Congress
Less wealthy countries struggle to meet greater need with far fewer resources.

Marijuana use might lead to higher risk of stroke, World Stroke Congress to be told
A five-year study of hospital statistics from the United States shows that the incidence of stroke has risen steadily among marijuana users even though the overall rate of stroke remained constant over the same period.

We need to talk about sexuality after stroke
Stroke survivors and their partners are not adequately supported to deal with changes to their relationships, self-identity, gender roles and intimacy following stroke, according to new research from the University of Sydney.

Standardized stroke protocol can ensure ELVO stroke patients are treated within 60 minutes
A new study shows that developing a standardized stroke protocol of having neurointerventional teams meet suspected emergent large vessel occlusion (ELVO) stroke patients upon their arrival at the hospital achieves a median door-to-recanalization time of less than 60 minutes.

Read More: Stroke News and Stroke Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.