Globoid leukodystrophy

Globoid leukodystrophy Metachromatic leukodystrophy X-linked adrenoleukodystrophy Refsum s disease Cystinosis... 

In Krabbe s disease (globoid leukodystrophy) there is accumulation of galactocerebroside in the white matter of the diild s nervous system, as lysosomes lack the enzyme galactoceiebrosid. There is poor myelinization, optic atrophy, mental retardation and, typically, death within 1-2 years of the condition s onset in in ncy. 

Hogan, G. R., L. Gutmann, and S. M. Chou.1969. The peripheral neuropathy of Krabbe s (globoid) leukodystrophy. Neurology 19 1094—1100 Igisu, H., and K. Suzuki. 1984. Progressive accumulation of toxic metabolite in a genetic leukodystrophy. Science 224 753-755. 

Krabbe s disease (Globoid leukodystrophy) Mental retardation, almost total absence of myelin, globoid bodies in white matter of brain Galactocerebroside Galactocerebroside -galactosidase... 

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. 

Tominaga K, Matsuda J, Kido M, Naito E, Yokota I, Toida K, Ishimura K, Suzuki K, Kuroda Y (2004) Genetic background markedly influences vulnerability of the hippocampal neuronal organization in the twitcher mouse model of globoid ceU leukodystrophy. J Neurosci Res 77 507-516... 

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... 

Farooqui, A. A., and Horrocks, L. A., Biochemical aspects of globoid and metachromatic leukodystrophies. Neurochem. Pathol. 2, 189-218 (1984b). 

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. 

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