Worldwide attention
"The phone rang off the hook for a while," says Ranum. The story first appeared in the Star Tribune and Pioneer Press only to be followed by the New York Times, CBS, CNN, and media outlets worldwide. What captured attention was not the discovery of the mutation itself but the fact that the Lincoln family carried it. Everyone wondered whether the president himself either had ataxia or would have developed it later in life.
Medical historians have long speculated that President Lincoln's tall stature may have resulted from Marfan syndrome, a disorder of the body's connective tissue. Ranum says that family history and historical accounts of Lincoln's gait make it much more likely that he suffered from ataxia. Finding the mutation in his family allows researchers to conclusively test whether Lincoln had the SCA5 gene.
Neurologist Larry Schut, M.D., is carrying on the ataxia research his Uncle John and father, Henry (in picture), started about 50 years ago. Ataxia has killed at least 65 members of the Schut family, including John Schut.
Lincoln's last direct descendant, Robert Todd Lincoln Beckwith, died in 1985 along with genetic evidence that might have shed light on the question. But it's possible that Abraham Lincoln's own DNA remains available in tissue samples and on items splattered with blood after his 1865 assassination.
Although some believe that the question of the president's possible ataxia is irrelevant to the scientific study of the disease, University of Minnesota researchers disagree. If Lincoln is found to carry the mutation, "It would help increase awareness of this devastating disorder," says Day.
"Ataxia is easily ignored by those not directly affected. The overall funding for ataxia research is not yet what it should be. A direct Lincoln connection would help strengthen efforts to understand and ultimately control this disease," he says.
Regardless of the Lincoln question, the University's ataxia research has already made a difference in people's lives. Scientists' understanding of the cellular mechanisms involved has improved by leaps and bounds, and genetic testing is now available.
"It's all extremely gratifying to me," says Schut, whose relatives carrying the SCA1 ataxia mutation have dropped in number from dozens to only three. "It makes me wish that my uncle and my dad, who got my interest going, could be here to see the genes discovered and our place in history at the threshold of finding new treatments."