1. A4V superoxide dismutase mutation in apparently sporadic ALS resembling neuralgic amyotrophy.
- Author
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Weiss MD, Ravits JM, Schuman N, and Carter GT
- Subjects
- Adult, Diagnosis, Differential, Female, Genetic Markers genetics, Genetic Testing methods, Humans, Mutation, Polymorphism, Single Nucleotide genetics, Pregnancy, Superoxide Dismutase-1, Amyotrophic Lateral Sclerosis diagnosis, Amyotrophic Lateral Sclerosis genetics, Brachial Plexus Neuritis diagnosis, Brachial Plexus Neuritis genetics, Genetic Predisposition to Disease genetics, Superoxide Dismutase genetics
- Abstract
We report a case of apparently sporadic amyotrophic lateral sclerosis (ALS) in a young pregnant woman presenting subacutely with severe left shoulder pain followed by progressive weakness and wasting of the left arm, mimicking neuralgic amyotrophy. She was later found electrophysiologically to have widespread denervation involving more than just the arm and an alanine for valine substitution in codon 4 (A4V) in the gene for Cu/Zn superoxide dismutase 1 (SOD1). Her case illustrates that pain on initial presentation, though uncommon, does not exclude a diagnosis of ALS.
- Published
- 2006
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