We knew just from the way it was behaving and the way it was transmitted in the family that it must be a single gene.
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.
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.
Because the historical literature talks about his clumsy gait . . . it raises the possibility that that was caused by a mutation in this gene.
President Lincoln was a truly great, great leader. It would do a lot to decrease the stigma of a disability, and to highlight the abilities of people who have ataxia, if he could be that great and have this.
