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

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.