A research team led by investigators from the Massachusetts General Hospital (MGH) has identified and cloned the gene responsible for early-onset dystonia, a crippling, inherited neurological disorder that begins in childhood. The discovery, announced in the September issue of Nature Genetics, is the culmination of more than 15 years of work and contains important clues that could lead to better understanding of the disease and possible preventive treatments.

There are many types of dystonia, a term that generally refers to sustained, involuntary muscle contractions that can twist and contort parts of the body. Early-onset dystonia, usually appearing before the age of 11, is the most common and severe hereditary form of the disorder, affecting about 50,000 people in North America. Symptoms usually begin in the legs or arms and spread to the rest of the body, causing it to twist into unnatural postures; symptoms worsen when patients are fatigued or stressed. Patients with advanced dystonia may be confined to a wheel-chair or bedridden. The lifelong condition is more prevalent than Huntington's disease or amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) among the general population and has a higher frequency among Ashkenazi Jews, those of Eastern European ancestry.

"We look on dystonia as a 'stealth crippler'," says Xandra O. Breakefield, PhD, of the MGH Molecular Neurogenetics Unit, leader of the research team. "In contrast to other movement disorders, like Parkinson's disease, there is no visible evidence of damage to the brain and no truly effective drug treatment. Only after identifying the responsible gene and then determining the function of its protein can we understand exactly how this disease produces its symptoms." Along with scientists from Breakefield's MGH lab, the paper's coauthors include researchers from the Columbia University College of Physicians and Surgeons and Mount Sinai School of Medicine in New York, Oregon Health S
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Contact: Susan McGreevey
mcgreeveys@al.mgh.harvard.edu
617-724-2764
Massachusetts General Hospital
3-Sep-1997

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