Clinical presentation of amyotrophic lateral sclerosis associated with the SOD1 p.D12Y variant

Takeaway

  • Individuals with amyotrophic lateral sclerosis (ALS) and the p.D12Y mutation in the superoxide dismutase 1 encoding gene (SOD1) have a heterogenous presentation ranging from mild disease with slow progression to aggressive disease with poor outcomes.

Why this matters

  • The clinical phenotype of ALS associated with the SOD1 p.D12Y variant has previously been reported in four people, all of whom displayed benign disease with slow progression.

  • This study reports a more aggressive form of ALS associated with the SOD1 p.D12Y variant, which clinicians should be aware of to ensure appropriate monitoring.