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

Authors :
Holmøy, Trygve
Wilson, John A
von der Lippe, Charlotte
Andersen, Peter M
Berg-Hansen, Pål
Holmøy, Trygve
Wilson, John A
von der Lippe, Charlotte
Andersen, Peter M
Berg-Hansen, Pål
Publication Year :
2010

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.

Details

Database :
OAIster
Notes :
English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1234060437
Document Type :
Electronic Resource
Full Text :
https://doi.org/10.3109.17482960903580315