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

Authors :: Nicolas Pageot
William Camu
Kevin Mouzat
Anne Polge
Guillaume Taieb
Serge Lumbroso
Raul Juntas-Morales
Département de neurologie [Montpellier]
Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)
Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)
Source :: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Taylor & Francis, 2017, 18 (3-4), pp.296-297. ⟨10.1080/21678421.2016.1255756⟩
Publication Year :: 2016
Publisher :: Informa UK Limited, 2016.
Abstract: 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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