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Case Reports
. 2025 Aug;26(5-6):591-594.
doi: 10.1080/21678421.2025.2488296. Epub 2025 Apr 12.

SOD1-ALS mimicking an inflammatory neuropathy: a case report

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Free article
Case Reports

SOD1-ALS mimicking an inflammatory neuropathy: a case report

Hanna Sophie Lapp et al. Amyotroph Lateral Scler Frontotemporal Degener. 2025 Aug.
Free article

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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