Summary Summary Short summary of a recent publication, written by scientific experts. Published: Nov 25, 2018

Heterozygous STUB1 mutation defines new spinocerebellar ataxia

Takeaway

  • Study identifies frameshift heterozygous c.823_824delCT STUB1 (p.L275Dfs*16) variant, characterising an unexplored SCA locus (SCA48; MIM# 618093).

Why this matters

  • Genetic identification of cognitive-affective syndrome (CCAS) can ensure greater accuracy of therapeutic allocation and monitoring.