Journal Article

DZNE-2025-00888

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png SOD1-ALS mimicking an inflammatory neuropathy: a case report.

Lapp, H. S. ; Günther, R. (Last author)DZNE*

2025
Taylor Francis Group Abingdon

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Please use a persistent id in citations: doi:10.1080/21678421.2025.2488296

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.

Keyword(s): Humans (MeSH) ; Adult (MeSH) ; Amyotrophic Lateral Sclerosis: genetics (MeSH) ; Amyotrophic Lateral Sclerosis: diagnosis (MeSH) ; Diagnosis, Differential (MeSH) ; Male (MeSH) ; Superoxide Dismutase-1: genetics (MeSH) ; Disease Progression (MeSH) ; ALS ; Amyotrophic lateral sclerosis ; MRI ; SOD1 mutation ; contrast enhancement ; Superoxide Dismutase-1 ; SOD1 protein, human

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Contributing Institute(s):

1. Translational Parkinson Research (AG Falkenburger)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2025

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Database coverage:
; ; ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Ebsco Academic Search ; Essential Science Indicators ; IF < 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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