January 2006 (Medialink) - Researchers at the University of Minnesota Medical School have discovered the gene responsible for a type of ataxia, an incurable degenerative brain disease which causes loss of coordination. Those living with the disease have difficulty with everyday tasks such as walking, speech, and writing.

The gene was identified through study of an 11-generation family descended from the grandparents of President Abraham Lincoln. The late president was at risk for the disease, and with this scientific discovery, it is possible to test Lincoln’s DNA to see if he had ataxia. Historical descriptions of Lincoln’s gait suggest he had early signs of the disease.

The mutation that causes the disease affects a protein which provides internal structure to cells. Understanding the mutation will clarify how nerve cells die and may provide insight into other diseases, including amyotrophic lateral sclerosis (Lou Gehrig’s disease) and Duchenne muscular dystrophy.

With this breakthrough, it is possible to predict a patient’s risk of developing the disease before any symptoms appear. Having this ability will now allow people with a family history of the illness to determine whether they will develop the disease and whether their children are at risk of inheriting the mutation. In addition, the prognoses of the different types of ataxias vary greatly, so identifying the specific type of ataxia provides patients with a more accurate picture of what the future holds.

The research will be published in the February print issue of Nature Genetics, and posted online Jan. 22, 2006. For more information, log onto www.ahc.umn.edu.

Produced for The University of Minnesota

For story information, contact:
Joanna Aronson, 312-222-9850

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