Weishaupt, Körtvélyessy, et al. investigate the role of a genetic variant in amyotrophic lateral sclerosis (ALS) causation. Reduction of serum neurofilament light chain levels upon treatment with the SOD1-specific drug tofersen indicates engagement of a relevant target and thus causality of the variant p.D91A in SOD1.
- Jochen H. Weishaupt
- Péter Körtvélyessy
- Thomas Meyer
