Abstract
Amyotrophic lateral sclerosis (ALS) is a progressive degenerative neuromuscular disease that presents with upper and lower motor neuron signs. Although the majority of ALS cases are sporadic, 10% are familial, of which 20%-25% result from mutations in the superoxide dismutase (SOD1) gene. We describe a novel case of SOD1 (A4V)-mediated ALS that presented with lower motor neuron facial diplegia and unilateral vocal cord paralysis. This case expands the phenotypic expression of the A4V mutation.
Publication types
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Case Reports
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Comparative Study
MeSH terms
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Aged
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Alanine / genetics
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Amyotrophic Lateral Sclerosis / diagnosis*
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Amyotrophic Lateral Sclerosis / enzymology
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Amyotrophic Lateral Sclerosis / genetics*
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Diagnosis, Differential
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Facial Paralysis / diagnosis*
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Facial Paralysis / enzymology
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Facial Paralysis / genetics*
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Humans
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Male
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Superoxide Dismutase / genetics*
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Superoxide Dismutase-1
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Valine / genetics
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Vocal Cord Paralysis / diagnosis*
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Vocal Cord Paralysis / enzymology
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Vocal Cord Paralysis / genetics*
Substances
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SOD1 protein, human
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Superoxide Dismutase
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Superoxide Dismutase-1
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Valine
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Alanine