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A Familial Spinal Cord Disorder
William J. Bank, MI
Arch Neurol. 1972;27(2):136-144.
Abstract
Three brothers with hyperglycinemia have a spinal cord disorder with upper and lower motor neuron signs in both legs but sparing sensation and sphincters. Cranial nerves and arms are normal. Five other family members were clinically normal with normal plasma glycine. The two patients studied had an abnormal plasma-serine response to oral glycine load and metabolized glycine-1-14C abnormally. These findings suggest a defect in glycine-serine interconversion in our three patients. Cases of hyperglycinemia have been associated with mental retardation, seizures, and early death, but have not been previously described with normal mentation or a specific spinal cord syndrome. Glycine acts as a post-synaptic inhibitory transmitter and is prevalent in the ventral lumbar spinal cord. Therefore, the cause of the spinal cord syndrome in these patients may be related to abnormal glycine metabolism.
Author Affiliations
From the departments of neurology (Dr. Bank) and pediatrics (Dr. Morrow), Hospital of the University of Pennsylvania, Philadelphia. Dr. Morrow is now with the Department of Pediatrics, University of Arizona, Tucson, Ariz.
Footnotes
Accepted for publication March 8, 1972.
Read in part before the American Neurological Association, Washington, DC, June 14, 1971.
Reprint requests to Department of Neurology, Hospital of the University of Pennsylvania, 3400 Spruce St, Philadelphia 19104 (Dr. Bank).
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