MONDAY, Jan. 23, 2006 (HealthDay News) -- Researchers say they've identified a gene responsible for ataxia -- a rare, incurable degenerative brain disease affecting movement and coordination.
And they did it with the help of DNA shared by President Abraham Lincoln.
A team at the University of Minnesota Medical School found that Spinocerebellar ataxia type 5 (SCA5) is associated with a mutation in the a-III spectrin protein, which plays an important role in maintaining the health of nerve cells.
Interestingly, the researchers identified this gene in an 11-generation family descended from the grandparents of Abraham Lincoln. The researchers collected and examined DNA samples from more than 300 Lincoln descendents.
"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 towards developing an effective treatment," study senior investigator Laura Ranum, a professor of genetics, cell biology and development, said in a prepared statement.
The study appears in the Jan. 22 online issue of Nature Genetics.
About one in 17,000 people have a genetic form of ataxia. If a parent has SCA5, each of his or her children has a 50 percent chance of inheriting the mutation and developing ataxia. The onset of SCA5 usually occurs between the ages of 30 and 50, but can appear in younger and older people.
Identification of the specific genetic mutation that causes SCA5 means that it's possible to test people at risk for the disease before they have any symptoms and to determine whether their children are at risk of inheriting the mutation.
The finding could also provide historical insight.
"Finding the SCA5 mutation in Lincoln's family makes it possible to test Lincoln's DNA -- if it becomes available -- to unequivocally determine if he carried the mutation and had or would have developed the disease," Ranum said.
She noted there are descriptions of Lincoln having an uncoordinated and uneven gait. This suggests that he may have showed early symptoms of SCA5.
More information
We Move has more about ataxia.
