25-year University of Utah research identifies ZFHX3 gene mutation causing Spinocerebellar Ataxia 4, impairing protein recycling.

25-year research led by the University of Utah identifies the genetic cause of rare neurological disorder, Spinocerebellar Ataxia 4 (SCA4). The mutation in the ZFHX3 gene, responsible for an extra-long string of repetitive DNA, impairs protein recycling in cells, potentially poisoning nerve cells. This discovery could lead to better treatments and inform life decisions for affected families.