title: G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome.
abstract: We describe a patient with apparently sporadic amyotrophic lateral sclerosis (SALS) with a novel g > c point mutation at position 382 in the SOD1 gene, leading to a substitution of glycine for arginine in amino acid position 127 (G127R). The disease presented with flaccid leg paresis, and progressed rapidly with generalized paresis resulting in respiratory failure after seven months. In addition to a predominating lower motor neuron syndrome, the phenotype was characterized by a severe lower back and leg pain syndrome which was treated successfully with spinal anaesthesia.
authors.affiliation: Department of Neurology, Oslo University Hospital Ullevål, Norway. trygve.holmoy@rr-research.no
authors.forename: Trygve
authors.initials: T
authors.lastname: Holmøy
authors.forename: John A
authors.initials: JA
authors.lastname: Wilson
authors.forename: Charlotte
authors.initials: C
authors.lastname: von der Lippe
authors.forename: Peter M
authors.initials: PM
authors.lastname: Andersen
authors.forename: Pål
authors.initials: P
authors.lastname: Berg-Hansen
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000503:physiopathology; D001483:Base Sequence; D004252:DNA Mutational Analysis; D018450:Disease Progression; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010146:Pain / Q000235:genetics / Q000503:physiopathology; D017354:Point Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D013577:Syndrome
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1