Overview

• A multinational research team led by the University of Utah has identified the genetic mutation causing spinocerebellar ataxia 4 (SCA4), a rare progressive neurological disease.
• The mutation involves an abnormally long section of DNA in the ZFHX3 gene, leading to protein-recycling issues in nerve cells.
• This breakthrough could pave the way for new treatments, as similar genetic issues are observed in other ataxias currently under clinical trial.
• Affected families can now get genetic testing to make informed decisions regarding health and family planning.
• The discovery was made possible by the collaboration of affected families, who provided essential biological samples and family histories.