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

Muscle Nerve. 2009 Nov;40(5):880-2. doi: 10.1002/mus.21321.

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

  • Case Reports
  • Comparative Study

MeSH terms

  • Aged
  • Alanine / genetics
  • Amyotrophic Lateral Sclerosis / diagnosis*
  • Amyotrophic Lateral Sclerosis / enzymology
  • Amyotrophic Lateral Sclerosis / genetics*
  • Diagnosis, Differential
  • Facial Paralysis / diagnosis*
  • Facial Paralysis / enzymology
  • Facial Paralysis / genetics*
  • Humans
  • Male
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase-1
  • Valine / genetics
  • Vocal Cord Paralysis / diagnosis*
  • Vocal Cord Paralysis / enzymology
  • Vocal Cord Paralysis / genetics*

Substances

  • SOD1 protein, human
  • Superoxide Dismutase
  • Superoxide Dismutase-1
  • Valine
  • Alanine