Leukodystrophies globoid cell leukodystrophy

Diagnosis of Globoid Cell Leukodystrophy (Krabbe s Disease)". Blochem. Blophys. Res. Commun., (1971), 1363-1366. 

Ellis, W. G. Schneider E. L. McCulloch, J. R. Suzuki R. and Epstein, C. J. "Fetal Globoid Cell Leukodystrophy (Rrabbe s Disease) Pathological and Biochemical Examination". Arch. Neurol., (1973), 29, 253-257. 

Krabbe s leukodystrophy AR Galactocerebroside- P-galactosidase Globoid cells contain galactocerebroside see text 1,2, Ch. 40... 

Globoid cell leukodystrophy (Krabbe s disease) Galactosylceramidase Galactosylsphingosine Galactosylceramide... 

Krivit, W., Peters, C. and Shapiro, E. G. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachro-matic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr. Opin. Neurol. 12 167-176,1999. 

Suzuki K. Biochemical pathogenesis of genetic leukodystrophies comparison of metachromatic leukodystrophy and globoid cell leukodystrophy (Krabbe s disease). Neuropediatrics 1984 15 32-36. 

Krabbe disease (Globoid-cell leukodystrophy) Galactosylceramidase Galactosylceramide psycosine... 

Umezawa, F., Eto, Y., Tokoro, T., Ito, F., and Maekawa, K., Enzyme replacement with liposomes containing P-galactosidase from charona lumpas in murine globoid cell leukodystrophy (Twitcher). Biochem. Biophys. Res. Commun. 127, 663-667 (1985). 

Chen, Y. Q., M. A. Rafi, G. de Gala, and D. A. Wenger. 1993. Cloning and expression of cDNA encoding human grilactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum Mol Genet 2 1841-1845. 

Crome, L., F. Hanefeld, D. Patrick, and J. Wilson. 1973. Late onset globoid cell leukodystrophy. Brain 96 841-848. 

De Gasperi, R., M. A. Gama Sosa, E. L. Sartorato, S. Battistini, H. MacFarlane, J. F. Gusella, W. Krivit, and E. H. Kolodny. 1996. Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. Am J Hum Genet 59 1233-1242. 

R. Koike, S. Tsuji, Y. Fukumaki, K. Hayashi, and T. Kobayashi. 1997. Adult onset globoid cell leukodystrophy (Krabbe disease) Analysis of galactosylceramidase cDNA from four Japanese patients. Hum Genet 100 450-456. 

Kolodny, E. H., S. Raghavan, and W. Krivit. 1991. Late-onset Krabbe disease (globoid cell leukodystrophy) Clinical and biochemical features of 15 cases. Dev Neurosci 13 232-239. Korenke, G. C., H. J. Christen, B. Kruse, D. H. Hunneman, and F. Hanefeld. 1997. Progression of X-linked adrenoleukodystrophy under interferon-I therapy. J Inherit Metab Dis V20 59-66. Krabbe, K. 1916. A new familial, infamtUe form of diffuse brain sclerosis. Brain 39 74-114. 

Suzuki, K., and K. Suzuki. 1985. Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species. Neurochem Pathol 3 53-68. 

Wenger, D. A., K. Suzuki, Y. Suzuki, and K. Suzuki. 2001. Globoid cell leukodystrophy (Krabbe disease), p. 3669-3694. In AL, Beaudet, Scriver, CR, Sly WAS, VaUe D, Childs B, Vogelstein B (eds.), The Metabolic and Molecular Basis of Inherited Disease, 8th ed. McGraw-Hill, New York. 

Snook ER, et al. Innate immune activation in the pathogenesis of a murine model of globoid cell leukodystrophy. Am J Pathol. 2014 184(2) 382-96. 

Globoid cell leukodystrophy see Lysosomal storage diseases... 

Krabbe S disease, or Krabbe s leukodystn hy, or Galactosylceramide lipidosis, or Globoid cell leukodystrophy (a sphingolipidosis) (see Fig. 3). 

Cerebrosides and sphingomyelin are believed to accumulate in the globoid bodies. In fact, the injection of cerebrosides into rats has led to the appearance in the white matter of cells that resemble globoid cells. The biochemical defect in Krabbe s disease is still unknown, but two clues are available. There are no defects in sphingomyelin breakdown, there is a shift in the ratio of cerebrosides to sulfatides (from 3 to 1 in the normal individuals to 12 to 1 in those with leukodystrophy. These observations have led to the suggestion [127-130] that the lipidosis results from a deficiency of a sulfate-transferring enzyme (see Fig. 3-43). 

Fig. 3-42. Histological appearance of globoid cell leukodystrophy (Cancilla)...

Andrews, J.M., Cancilla, P.A. Ultrastructure of human globoid cell leukodystrophy. In Proc. Vlth International Congress of Neuropathology, p. 1051-1052. Paris Masson Cie. 1970... 

Wenger, D.A., Sattler, M., Hiatt, W. Globoid cell leukodystrophy Deficiency of lactosyl ceramide beta-galactosidase. Proc. nat. Acad. Sci. (Wash.) 71, 854-857 (1974)... 

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