G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome.
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.
Holmøy
Trygve
T
Department of Neurology, Oslo University Hospital Ullevål, Norway. trygve.holmoy@rr-research.no
Wilson
John A
JA
von der Lippe
Charlotte
C
Andersen
Peter M
PM
Berg-Hansen
Pål
P
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
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1