Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation

Abstract

We report the third case of amyotrophic lateral sclerosis related to p.E121G Superoxide dismutase-1 (SOD1) mutation. Besides a sporadic presentation and a slow progressive course, as described in the 2 previously cases, our patient presented with prominent sensory and cerebellar signs. This case report strengthens that p.E121G should be considered as a causal mutation. Slowly upper and lower motor neuron degeneration, even with non-motor clinical features, should prompt a sequencing of SOD1.

Key words:

• Amyotrophic lateral sclerosis
• slow progression
• multi-system involvement
• SOD1 mutation

Declaration of interest

The authors report no conflicts of interest. have no conflict and no financial disclosure of interest to declare. The authors alone are responsible for the content and writing the paper.