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Diana L. Coleman, MS; Pierluigi Gambetti, MD; Salvatore Di Mauro, MD; Robert E. Blume, MD

Arch Neurol. 1974;31(6):396-406.

Abstract
Ultrastructural studies of muscle from a patient with Lafora disease showed sheets of glycogen particles and fine granular-filamentous material between myofibrils. These structures were frequently intermingled and stained intensely with silver proteinate, a specific stain for polysaccharides. Methods for isolation of glycogen yielded excessive hexose-releasing material. In chromatographic analysis of a hydrolysate of this material, glucose was the only component sugar. Compared with action on normal muscle glycogen, phosphorylase was ineffective, β-amylase 50% less effective, but -amylase normally effective in degrading the Lafora polyglucosan. Incubation of muscle homogenate or isolated polyglucosan with a mixture of glucosidases capable of completely degrading normal glycogen (Diazyme) resulted in only 30% digestion of the Lafora polyglucosan. The metabolic error causing the accumulation of anomalous polysaccharide in this generalized storage disease remainsobscure.

Author Affiliations
From the Department of Biochemistry, Division of Neuropathology, and the Department of Neurology, University of Pennsylvania, Philadelphia (Ms. Coleman, Drs. Gambetti and Di Mauro), and the Department of Neurology, Mercy Hospital, Pittsburgh (Dr. Blume). Part of this work was submitted by Diana L. Coleman in partial fulfillment for the degree of Master of Science.

Footnotes
Accepted for publication April 5, 1974.

Read in part at the 49th annual meeting of the American Association of Neuropathologists, Freeport, Grand Bahama, June 16, 1973.

Reprint requests to Columbia University College of Physicians & Surgeons, 710 W 168th St, New York, NY 10032 (Dr. Di Mauro).

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