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

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Taieb, Guillaume | Polge, Anne | Juntas-Morales, Raul | Pageot, Nicolas | Lumbroso, Serge | Mouzat, Kevin | Camu, William

Edité par CCSD ; Taylor & Francis -

International audience. 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.

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