What is ataxia?
Ataxia is not kind. Those with the disease suffer from a deterioration of the cerebellum, brain stem, and spinal cord regions of the nervous system that govern muscle control. "Ataxic patients are loosely defined as anyone with clumsiness and a lack of coordination from cerebellar degeneration," says John Day, M.D., Ph.D., a professor of neurology at the University's Institute of Human Genetics who is collaborating with Ranum on the Lincoln project.
Finding the genes that cause ataxia provides an immediate benefit for those who want to know if they will develop the disease or pass on the gene to their children, but our long-term goal is to find a cure.– Laura Ranum, Ph.D.
In many patients, ataxia results from genetic defects and typically appears in middle age. In these people, a genetic flaw causes the elaborately structured cells of the cerebellum to die off. The disease proceeds gradually, eventually robbing its victims of the ability to walk, hold objects, move their eyes, speak, and perform common activities of daily life. If patients lose control of the muscles for swallowing, they can develop pneumonia or even choke to death.