A4V superoxide dismutase mutation in apparently sporadic ALS resembling neuralgic amyotrophy.
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.
Department of Neurology, University of Washington Medical Center, Seattle 98195, USA. mdweiss@u.washington.edu
M D
MD
Weiss
J M
JM
Ravits
N
N
Schuman
G T
GT
Carter
D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000235:genetics*; D020968:Brachial Plexus Neuritis / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
D005819:Genetic Markers; C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1