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IU Physician Helps Crack Disease's Genetic Code By Diana Penner [log in to unmask] July 21, 2004 A neurologist at the Indiana University School of Medicine helped crack the genetic code of a rare disorder that can leave people unable to walk or talk, and the breakthrough could lead to better understanding of other neurological diseases. Dr. Allison Brashear, associate professor of neurology at IU's medical school, said the discovery of the mutation of an enzyme on a specific gene allows doctors to diagnose the disorder, called "rapid-onset dystonia-parkinsonism," or RDP. She was part of an international team that participated in the research. Now, researchers hope to build on that knowledge with better and faster diagnoses of RDP and to search for treatments for the disorder. They also hope what they've uncovered will shed light on other diseases, such as drug-resistant variations of Parkinson's disease and epilepsy. Identifying the mutation is a key step, and the next stage, Brashear said, is to find an explanation for the link. "Why is this mutation causing neurological disorders?" RDP affects younger people, often in their teens or 20s, although it has affected children as young as 4 and adults up to age 58. Symptoms appear suddenly -- within hours, days or a month. Brashear said one of the most dramatic known cases involved a young man who was competing in a track meet; by the end of the meet, he was drooling and couldn't swallow. Patients have symptoms of two disorders: dystonia, with involuntary muscle contortions, which affects about 300,000 people in North America; and Parkinson's disease, which is characterized by tremors and muscle rigidity and affects about 1 million North Americans, according to the school of medicine. Unlike both of those diseases, which are marked by progressive worsening of symptoms, people with RDP tend to stabilize after the initial abrupt appearance of the symptoms, Brashear said. The condition is rare, but it's not known how many cases exist because until now, diagnoses have been elusive. In the study published this month in the journal Neuron, Brashear and a researcher at the Albert Einstein School of Medicine in New York looked at cases of RDP in seven unrelated families. Two of the families are American, including a Connersville family about which Brashear wrote in the early 1990s in first identifying the disease. In all, about 25 individuals were part of the study, but Brashear said researchers hope the publicity about the breakthrough will attract the attention of people who have gone undiagnosed but recognize the symptoms. She urged people who believe they or family members might have RDP to contact their physicians, who in turn can contact her. The New York researcher, a molecular geneticist, analyzed DNA from all seven families and found six mutations of a specific enzyme that is involved with the movement of electrolytes. Enzymes are protein molecules that speed up chemical reactions within cells. Brashear and other clinicians now plan to test various available drugs to determine whether any are effective in controlling the symptoms of RDP. Call Star reporter Diana Penner at (317) 444-6249 SOURCE: Indianapolis Star, Jul 21, 2004 http://www.indystar.com/articles/9/164109-9159-009.html * * * ---------------------------------------------------------------------- To sign-off Parkinsn send a message to: mailto:[log in to unmask] In the body of the message put: signoff parkinsn