Significant association between Ataxin 1 repeat expansions and amyotrophic lateral sclerosis

Takeaway

  • Significant association between intermediate Ataxin 1 (ATXN1) repeat expansions and amyotrophic lateral sclerosis (ALS), possibly via mislocalization of TAR DNA-binding protein 43 (TDP-43).

Why this matters

    Being aware of associations between ALS and ATXN1 will allow for more focused therapeutic approaches.