Gadolinium enhancement of the cauda equina in a case of familial ALS with p.S135G SOD1 mutation

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 2026

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Authors: Sumika Nomizo, Junji Komatsu, Ayano Shima, Daiki Muramatsu, Keitaro Matsubara, Ichiro Nozaki, Moeko Noguchi‐Shinohara, Ayumi Nishiyama, Naoki Suzuki, Masashi Aoki, Kenjiro Ono
DOI: 10.1080/21678421.2026.2638591
Cited by: 0
References: 8

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by motor neuron degeneration. Gadolinium enhancement of the cauda equina is typically associated with inflammatory diseases. We report a case of familial ALS with a Cu/Zn superoxide dismutase (SOD1) gene mutation showing marked gadolinium enhancement of the lumbar nerve roots. To date, only a few cases of ALS with gadolinium enhancement of the nerve roots have been reported. To our knowledge, this is the first reported case of ALS with an p.S135G SOD1 mutation exhibiting gadolinium enhancement in the cauda equina.

Fields of Study & Subjects

Amyotrophic Lateral Sclerosis Research Peripheral Neuropathies and Disorders Amyloidosis: Diagnosis Treatment Outcomes

Publication details

Journal / source
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Volume
27
Issue
5-6
Pages
708–710
Publication date
5 March 2026
Language
EN