Case report
Open access
Aug 2026
Cerebellar ataxia-onset ALS with SOD1 D91A mutation: a rare phenotype
Background Amyotrophic lateral sclerosis (ALS) associated with mutations in the superoxide dismutase 1 (SOD1) gene is recognized for phenotypic variability, yet cerebellar ataxia as a presenting feature has been reported only in isolated cases. Methods We describe four unrelated patients: three men and one woman, aged...
D. Shevchuk, E. Nuzhnyi, E. Fedotova et al.
· Frontiers in Neurology · 0 citations