Genetic Cause of Spinocerebellar Ataxia 4 Identified After 25 Years

Researchers have pinpointed the genetic mutation responsible for SCA4, offering new insights and potential treatment avenues.

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.