The oligogenic basis of sporadic amyotrophic lateral sclerosis

Takeaway

  • SOD1 p.Ala90Val is a major mutation in Finnish people with sporadic amyotrophic lateral sclerosis (ALS), and its disease penetrance is modulated by additional contributing genes that are highly heterogeneous.

Why this matters

  • This study demonstrates the importance of oligogenic mechanisms in sporadic ALS and indicates the highly variable genetic basis of the disease.