| G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome. | |
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MedLine Citation:
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PMID: 20192886 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Trygve Holmøy; John A Wilson; Charlotte von der Lippe; Peter M Andersen; Pål Berg-Hansen |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases Volume: 11 ISSN: 1471-180X ISO Abbreviation: Amyotroph Lateral Scler Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-15 Completed Date: 2011-01-13 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101283386 Medline TA: Amyotroph Lateral Scler Country: England |
Other Details:
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Languages: eng Pagination: 478-80 Citation Subset: IM |
Affiliation:
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Department of Neurology, Oslo University Hospital Ullevål, Norway. trygve.holmoy@rr-research.no |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amyotrophic Lateral Sclerosis*
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genetics,
physiopathology Base Sequence DNA Mutational Analysis Disease Progression Fatal Outcome Humans Male Middle Aged Molecular Sequence Data Pain* / genetics, physiopathology Point Mutation* Superoxide Dismutase / genetics* Syndrome |
| Chemical | |
Reg. No./Substance:
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EC 1.15.1.-/superoxide dismutase 1; EC 1.15.1.1/Superoxide Dismutase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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