January 28, 2010

BIRMINGHAM, Ala. - The University of Alabama at Birmingham (UAB) Center for Neurodegeneration and Experimental Therapeutics (CNET) is establishing a dystonia research program, partnering with two other research institutions on a major government-funded study of the genetic underpinning of this neurologic condition that affects nearly a half a million Americans.

UAB will receive more than $1.5 million as part of the five-year study with Harvard Medical School and Mt. Sinai Medical Center, funded by the National Institute of Neurological Disorders and Stroke (NINDS), one of the National Institutes of Health. 

Dystonia is a movement disorder that causes the muscles to contract and spasm involuntarily. The involuntary muscle contractions force the body into repetitive and often twisting movements and awkward, irregular postures. It can affect the hands, feet, neck or other parts of the body. It may be genetic in origin or appear spontaneously, and dozens of diseases and conditions include dystonia as a major symptom.

"Our research will focus on a gene, DYT1, that we know is associated with inherited early-onset dystonia," said David Standaert, MD., Ph.D., director of CNET and principal investigator of the study. "This study will help us understand how DYT1 causes dystonia, and it will give us potential targets for new therapeutic approaches in DYT1 and other forms of dystonia."

Before coming to UAB, Standaert was a member of the Harvard University team that discovered DYT1 10 years ago. UAB's role in this project will be to study the effect DYT1 has in mouse models of the disease and look for agents or substances that will improve the symptoms. Standaert and colleague Yuqing Li, Ph.D., associate professor of neurology, will develop transgenic animal models by adding or removing DYT1 to certain areas of the brain. They then can test potential medications in those models.

Standaert says UAB has about 300 dystonia patients in the clinical practice of the Division of Movement Disorders. DNA samples also will be collected from some of those patients to identify genes other than DYT1 that may cause dystonia.

There is no cure for dystonia, but there are treatment options, including the use of botulinum toxin and other medications. Dystonia affects men, women and children of all ages and backgrounds, causing varying degrees of disability and pain, from mild to severe.

"No one really knows how many people living in Alabama have dystonia," said Pat Wyatt, director of the Dystonia Support Group of Alabama, the state chapter of the Dystonia Medical Research Foundation. "It is only through this sort of research initiative that new therapies, new treatments and potentially a cure for dystonia may be found."

Dystonia may affect a single body area or be generalized throughout multiple muscle groups. Although there are multiple forms of dystonia and the symptoms of these forms may outwardly appear quite different, the element that all forms share is the repetitive, patterned and often twisting involuntary muscle contractions. Dystonia is a chronic disorder, but the vast majority of dystonias do not impact cognition, intelligence or shorten a person's life span.

About the UAB Center for Neurodegeneration and Experimental Therapeutics

The UAB Center for Neurodegeneration and Experimental Therapeutics seeks to accelerate the development and delivery of new treatments for neurodegenerative diseases, including Parkinson's, Alzheimer's, Huntington's, ALS and dystonia.