Researchers at the UW and elsewhere have found a genetic mutation linked to an inherited form of juvenile-onset motor neuron disease. The results of their work will appear in the American Journal of Human Genetics.

Craig Bennett, research assistant professor of pediatrics in the Division of Genetics and Developmental Medicine, and Phillip Chance, professor of neurology and pediatrics and chief of the Division of Genetics and Developmental Medicine, led the group that found the mutation.

The researchers detected a mutation in the Senataxin gene while studying the disease, a rare type of amyotrophic lateral sclerosis (ALS) that first appears early in life. Patients with the disease have mild symptoms, a slow progression of muscle weakness, a normal life span, and relatives with the same disorder. Most other ALS disorders appear in middle age or later life and cause paralysis and death within a few years.

The exact function of the Senataxin gene is unknown, but scientists think it may play a role in how cells rid themselves of faulty genetic messages during RNA processing. The mutation may prevent motor neuron cells from clearing out DNA encoding errors, and could thereby contribute to the degeneration of those nerve cells.

Researchers hope that isolating the gene, which took about seven years, could help in determining how motor neuron cells are damaged in other forms of ALS.

The group included other researchers at the UW, as well as from the National Institute of Neurological Disorders and Stroke, the University of Antwerp in Belgium, the University of Sydney in Australia, Johns Hopkins University, and Karl Franzens University in Graz, Austria.