SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis.
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.
Salameh
Johnny S
JS
Massachusetts General Hospital, Department of Neurology, 165 Cambridge Street, Suite 820, Boston, Massachusetts 02114, USA. johnnysalameh@hotmail.com
Atassi
Nazem
N
David
William S
WS
D000368:Aged; D000409:Alanine / Q000235:genetics; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*; D003937:Diagnosis, Differential; D005158:Facial Paralysis / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D014633:Valine / Q000235:genetics; D014826:Vocal Cord Paralysis / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1; D014633:Valine; D000409:Alanine