Heterozygous <i>STUB1</i> mutation causes familial ataxia with cognitive affective syndrome (SCA48)

Abstract

We report a heterozygous <i>STUB1</i> pathogenic genetic variant causing dominant cerebellar ataxia. Since recessive mutations in <i>STUB1</i> gene have been previously associated with SCAR16, these findings suggest a previously undescribed SCA locus (SCA48; MIM# 618093).