Newfound genetic mutation may have afflicted Lincoln

Abraham Lincoln may have suffered from a debilitating type of ataxia.

From M, spring 2006

Researchers at the University of Minnesota Medical School have discovered the gene responsible for a type of ataxia, an incurable degenerative brain disease that causes loss of coordination in walking, speech, writing, and other tasks. About 1 in 17,000 people have a genetic form of ataxia, including several descendants of Abraham Lincoln's paternal grandparents. Lincoln has been described as having an ungainly gait, which could have been an early feature of the disease.

The specific disease, called spinocerebellar ataxia type 5 (SCA5), is caused by mutations in the gene for a protein called beta-III spectrin, which provides internal structure to nerve cells. The age of onset for SCA5 is usually between 30 and 50 (Lincoln died at 53), but can range from 4 to more than 70. The mutations lead to abnormalities in the protein, and understanding their effects may help scientists understand how nerve cells die and provide insight into such other diseases as Lou Gehrig's disease and Duchenne muscular dystrophy.

"We are excited about this discovery because it provides a genetic test that will lead to improved patient diagnoses and gives us new insight into the causes of ataxia and other neurodegenerative diseases, an important step toward developing an effective treatment," said study leader Laura Ranum, a professor of genetics, cell biology, and development.