people
  • Overview
  • Grant Central
    Find funding & collaboration opportunities, and coordinate proposal development.
  • Medvane
    View biomedical research & publication trends within the Harvard community.
  • Harvard Catalyst Profiles
    Contact, publication, and social network information about Harvard faculty and fellows.
  • Research Navigators
    Scientific liaisons who facilitate clinical and translational research.
learning
resources

Medvane

The present state and historical trends of biomedical research in the Harvard community.

SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis. Muscle Nerve 2009

Massachusetts General Hospital, Department of Neurology, 165 Cambridge Street, Suite 820, Boston, Massachusetts 02114, USA. johnnysalameh@hotmail.com
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.
See PubMed record in a new window