A protein problem we thought only caused a rare type of ALS is actually showing up in the most common version of the disease too.
March 26, 2026
Original Paper
Longitudinal Analysis of Superoxide Dismutase 1 Seeding Activity in Amyotrophic Lateral Sclerosis Cerebrospinal Fluid
medRxiv · 10.64898/2026.03.20.26348753
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The Takeaway
For years, doctors distinguished between ALS caused by specific gene mutations (SOD1) and the 90% of cases that appear randomly. This discovery of 'misfolded' SOD1 proteins in the general ALS population suggests the disease may have a much more unified cause than previously assumed, potentially opening up specialized genetic treatments to thousands more patients.
From the abstract
Twenty percent of familial amyotrophic lateral sclerosis (fALS) cases are linked to mutations in the Superoxide Dismutase 1 (SOD1) gene and accumulation of misfolded SOD1 aggregates. SOD1 misfolding from the broader ALS population without SOD1 mutations is less clear. Here, we report SOD1 seeding activity in antemortem cerebrospinal fluid (CSF) from ALS participants with and without SOD1 mutations during ALS progression. Antemortem CSF from controls, SOD1-ALS, and sporadic ALS (sALS) patients wa