title: 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.
authors.affiliation: a Department of Neurology , CHU Montpellier, Hopital Guy de Chauliac , 80 avenue Augustin Fliche , 34295 Montpellier Cedex 5 , France and.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Taieb
authors.affiliation: b Department of Biochemistry and Molecular Biology , CHU Nîmes, Hôpital Caremeau , Place du Pr Debré , 30029 Nîmes Cedex 4 , France.
authors.forename: Anne
authors.initials: A
authors.lastname: Polge
authors.affiliation: a Department of Neurology , CHU Montpellier, Hopital Guy de Chauliac , 80 avenue Augustin Fliche , 34295 Montpellier Cedex 5 , France and.
authors.forename: Raul
authors.initials: R
authors.lastname: Juntas-Morales
authors.affiliation: a Department of Neurology , CHU Montpellier, Hopital Guy de Chauliac , 80 avenue Augustin Fliche , 34295 Montpellier Cedex 5 , France and.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Pageot
authors.affiliation: b Department of Biochemistry and Molecular Biology , CHU Nîmes, Hôpital Caremeau , Place du Pr Debré , 30029 Nîmes Cedex 4 , France.
authors.forename: Serge
authors.initials: S
authors.lastname: Lumbroso
authors.affiliation: b Department of Biochemistry and Molecular Biology , CHU Nîmes, Hôpital Caremeau , Place du Pr Debré , 30029 Nîmes Cedex 4 , France.
authors.forename: Kevin
authors.initials: K
authors.lastname: Mouzat
authors.affiliation: a Department of Neurology , CHU Montpellier, Hopital Guy de Chauliac , 80 avenue Augustin Fliche , 34295 Montpellier Cedex 5 , France and.
authors.forename: William
authors.initials: W
authors.lastname: Camu
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology; D018450:Disease Progression; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics; D009410:Nerve Degeneration / Q000235:genetics / Q000473:pathology; D009460:Neurologic Examination; D000072105:Superoxide Dismutase-1 / Q000235:genetics*
chemical_list: C000606290:SOD1 protein, human; D000072105:Superoxide Dismutase-1
keywords: Amyotrophic lateral sclerosis; SOD1 mutation; multi-system involvement; slow progression