G127R: a novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome
2010 (English)In: Amyotrophic Lateral Sclerosis and other Motor Neuron Disorders, ISSN 1466-0822, E-ISSN 1471-180X, Vol. 11, no 5, 478-480 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
2010. Vol. 11, no 5, 478-480 p.
Familial ALS, SOD1, mutation
IdentifiersURN: urn:nbn:se:umu:diva-42298DOI: 10.3109/17482960903580315ISI: 000283069200012PubMedID: 20192886OAI: oai:DiVA.org:umu-42298DiVA: diva2:409092