Scientists from Beth Israel Medical Center and the Icahn School of Medicine at Mount Sinai have announced the discovery of a novel gene for primary torsion dystonia, a debilitating neurological disorder estimated to affect no fewer than 300,000 people in the US and Canada.

Published online in Nature Genetics, the findings describe the GNAL gene, the first primary torsion dystonia gene that directly points to pathways in the brain's dopamine system as the origin of pathophysiology. Genetic study in two extensively studied dystonia families revealed mutations in GNAL. Further screening of 39 additional affected families identified another six mutations in this gene. The research unveils a new potential therapeutic target and thus an opportunity for developing new treatments. This discovery will also help development of genetic tests to confirm diagnosis, identify unaffected adult carriers, and provide greater reproductive health options for affected families.

The discovery was made through the collaboration of a clinical research team of movement disorder specialists in the United States and Canada led by Susan Bressman, MD, chair of the Mirken Department of Neurology at Beth Israel Medical Center and the work of the molecular genetic laboratory at the Icahn School of Medicine at Mount Sinai, led by Laurie Ozelius, PhD, associate professor in the department of genetics and genomic sciences there.