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G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome.
- Source :
-
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases [Amyotroph Lateral Scler] 2010 Oct; Vol. 11 (5), pp. 478-80. - 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.
- Subjects :
- Base Sequence
DNA Mutational Analysis
Disease Progression
Fatal Outcome
Humans
Male
Middle Aged
Molecular Sequence Data
Superoxide Dismutase-1
Syndrome
Amyotrophic Lateral Sclerosis genetics
Amyotrophic Lateral Sclerosis physiopathology
Pain genetics
Pain physiopathology
Point Mutation
Superoxide Dismutase genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1471-180X
- Volume :
- 11
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
- Publication Type :
- Academic Journal
- Accession number :
- 20192886
- Full Text :
- https://doi.org/10.3109/17482960903580315