LOS ANGELES (Embargoed until April 15, 2002; 4:00 p.m., Central) -- Researchers at Cedars-Sinai Medical Center and at the Centro Investigacin Rehabilitacin de Ataxia, in Holguin, Cuba have identified a gene that affects the severity and onset of a rare brain disease. The condition, called spinocerebellar ataxia, is a disease caused by a gene mutation and characterized by a loss of balance and coordination. The finding, reported at the 54th Annual Meeting of the American Academy of Neurology, may lead to new ways to effectively treat the disease.
Our research shows that a certain form of SCA6, a gene that regulates the entry of calcium into the cells, influences the severity of spinocerebellar ataxia, said Stefan-M. Pulst, M.D., who holds the Carmen and Louis Warschaw Chair in Neurology at Cedars-Sinai Medical Center and is senior author of the study.
Spinocerebellar ataxia is caused by a loss of function in the cerebellum, the part of the brain that controls coordination. The disease causes clumsiness and a loss of coordination in the hands, arms, legs, speech and eye movements. Usually SCA2 occurs in adulthood, but it can also occur in childhood or very late in life despite identical gene mutations. In either situation, SCA2 is caused by a gene mutation made up of very long repeats of three chemical bases (C-A-G) in the DNA sequence that tend to get bigger over time. In successive generations, for example, the length of the C-A-G repeat becomes longer and causes the disease to occur at an earlier age. However, only about 60 percent of the variation in age of onset can be explained by the C-A-G repeat length, with the remaining 40 percent having no relationship to the size of the repeat.
To determine why people with identical gene mutations developed the disease at different ages and degrees of severity, the investigators analyzed 331 patients with SCA2 from Holguin, Cuba, where SCA2 is common due to a large Founder effect or wher
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Cedars-Sinai Medical Center