Author

E. Nuzhnyi

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Case report Open access Aug 2026

Cerebellar ataxia-onset ALS with SOD1 D91A mutation: a rare phenotype

This is the largest reported case series of patients homogeneous for a single SOD1 mutation and a shared cerebellar ataxia-onset ALS phenotype and underscores the importance of SOD1 genetic testing in patients with progressive adult-onset ataxia of undetermined origin.

D. Shevchuk, E. Nuzhnyi, E. Fedotova et al. · Frontiers in Neurology · 0 citations