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.

Nyckelord

Familial ALS

SOD1

mutation

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