G127R: a novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome

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.

Ingår i:Amyotrophic Lateral Sclerosis and other Motor Neuron Disorders: Informa UK Limited11:5, s. 478-4801466-08221743-4483
Ingår i:Amyotrophic Lateral Sclerosis: Informa UK Limited11:5, s. 478-4801748-29681471-180X

Av författaren/redakt...: Holmøy, Trygve; Wilson, John A; von der Lippe, C ...; Andersen, Peter ...; Berg-Hansen, Pål

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