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December 1970

Studies in Globoid (Krabbe) Leukodystrophy (GLD): V. Controlled Enzymic Studies in Ten Human Cases

Author Affiliations

Denver; Philadelphia; Denver; Bethesda, Md; Vellore, South India; Denver
From the Division of Neurology, University of Colorado Medical Center, Denver (Dr. Austin, Mr. Armstrong, Miss Schlenker, and Mr. Stumpf); the Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia (Dr. Suzuki); the Laboratory of Neurochemistry, National Institute of Neurological Diseases and Stroke, Bethesda, Md (Dr. Brady); and the Department of Neurological Sciences, Christian Medical College, Vellore, South India (Dr. Bachhawat).

Arch Neurol. 1970;23(6):502-512. doi:10.1001/archneur.1970.00480300024003

GLYCOLIPIDS are reduced in the brain in globoid leukodystrophy (GLD), and a distinctive change occurs in their proportions.1,2 Typically, there is an increase in the ratio of cerebrosides to sulfatides in isolated globoid bodies,3 in one partially purified "myelin fraction"4 and in cerebral cortex.5 The increase in cerebrosides is of particular interest because cerebrosides elicit a local globoid-like response when injected into experimental animals.6,7 The decrease in sulfatides is also notable because in two GLD cases there was abnormally low activity of the enzyme system that synthesizes sulfatides.8,9

The purpose of the present collaborative report is to consider several enzymic mechanisms which could cause the relative increase in cerebrosides and the decrease of sulfatides. Our present findings emphasize and further confirm the recent finding of a β-galactosidase deficiency in both human10,11 and canine GLD.12 Recent reviews of GLD are presented elsewhere.

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