SOD1-ALS mimicking an inflammatory neuropathy: a case report
- PMID: 40219902
- DOI: 10.1080/21678421.2025.2488296
SOD1-ALS mimicking an inflammatory neuropathy: a case report
Abstract
We present the case of a 36-year-old patient with a rapidly progressing SOD1-ALS, who was initially diagnosed as inflammatory acute motor axonal neuropathy due to contrast-enhancement of the lumbar spinal cord and a pure secondary motor neuron phenotype. Since the initiation of tofersen, disease progression and neurofilament levels impressively declined.
Keywords: ALS; Amyotrophic lateral sclerosis; MRI; SOD1 mutation; contrast enhancement.
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