TY  - JOUR
AU  - Lapp, Hanna Sophie
AU  - Günther, René
TI  - SOD1-ALS mimicking an inflammatory neuropathy: a case report.
JO  - Amyotrophic lateral sclerosis & frontotemporal degeneration
VL  - 26
IS  - 5-6
SN  - 2167-8421
CY  - Abingdon
PB  - Taylor Francis Group
M1  - DZNE-2025-00888
SP  - 591 - 594
PY  - 2025
AB  - 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.
KW  - Humans
KW  - Adult
KW  - Amyotrophic Lateral Sclerosis: genetics
KW  - Amyotrophic Lateral Sclerosis: diagnosis
KW  - Diagnosis, Differential
KW  - Male
KW  - Superoxide Dismutase-1: genetics
KW  - Disease Progression
KW  - ALS (Other)
KW  - Amyotrophic lateral sclerosis (Other)
KW  - MRI (Other)
KW  - SOD1 mutation (Other)
KW  - contrast enhancement (Other)
KW  - Superoxide Dismutase-1 (NLM Chemicals)
KW  - SOD1 protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:40219902
DO  - DOI:10.1080/21678421.2025.2488296
UR  - https://pub.dzne.de/record/280051
ER  -