Presence of an 18T allele is associated with decreased survival in amyotrophic lateral sclerosis

Takeaway

  • The presence of a structural variant of the serine and arginine rich proteins-related carboxy terminal domain associated factor 4 (SCAF4) gene is associated with shorter survival time in people with familial amyotrophic lateral sclerosis (fALS).

Why this matters

    The findings show the importance of identifying structural variants in ALS-related genes and may help to develop novel therapeutic targets for clinical trials.