Researchers at the University of Miami Miller School of Medicine, McGill University and other institutions have found that a well-concealed genetic variation in the gene FGF14, called a DNA tandem repeat expansion, causes a common form of late-onset cerebellar ataxia, a brain disorder that interferes with coordinated movement. Tandem repeat expansions are only found in 50 conditions, including Friedreich's ataxia and Huntington's disease, but researchers believe they could account for many other conditions.
The paper, "Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia," is published online on December 14 in the New England Journal of Medicine. These findings could lead to new diagnostics and therapeutics for patients suffering from late-onset ataxia.
"This form of ataxia strikes people relatively late in life, and there are virtually no treatments," said Stephan Züchner, M.D., Ph.D., co-director of the John P. Hussman Institute for Human Genomics, Chief Genomics Officer for the Miller School of Medicine and co-senior author on the study. "But now, we know the disease is caused by a single gene, and that should lead to great therapeutic progress."