Muscle Nerve. 2009 Nov;40(5):880-2.

SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis.

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Massachusetts General Hospital, Department of Neurology, 165 Cambridge Street, Suite 820, Boston, Massachusetts 02114, USA. johnnysalameh@hotmail.com

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.

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