Genetic Galactocerebrosidase Deficiency (Globoid Cell Leukodystrophy, Krabbe Disease) in Rhesus Monkeys (Macaca mulatta)

Laboratory Animal Science

Volumn 48, Issue 5, 1998, Pages 476-482

  Baskin, Gary B ^a   Ratterree, Marion ^a   Davison, Billie B ^a   Falkenstein, Kathrine P ^a   Clarke, Margaret R ^a   England, John D ^b   Vanier, Marie T ^c   Luzi, Paola ^d   Rafi, Mohammad A ^d   Wenger, David A ^d  

^a TULANE NATIONAL PRIMATE RESEARCH CENTER   (United States)

^b LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CENTRE HOSPITALIER LYON SUD   (France)

^d THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSYLCERAMIDASE;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN TISSUE; CLINICAL FEATURE; ENZYME DEFICIENCY; EXPERIMENTAL MODEL; GENE THERAPY; GENETIC DISORDER; GLOBOID CELL LEUKODYSTROPHY; HISTOPATHOLOGY; LIPID ANALYSIS; MYELIN SHEATH; NONHUMAN; PEDIGREE ANALYSIS; RHESUS MONKEY;

ANIMALS; BRAIN; BRAIN CHEMISTRY; DEMYELINATING DISEASES; DNA; FEMALE; GALACTOSYLCERAMIDASE; GENE DELETION; KIDNEY; LEUKODYSTROPHY, GLOBOID CELL; MACACA MULATTA; MALE; MONKEY DISEASES; NEURAL CONDUCTION; PEDIGREE; PSYCHOSINE; SCIATIC NERVE; SPINAL CORD;

EID: 0031770855     PISSN: 00236764     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (42)

1. Baskin, G., J. Alroy, Y.-T. Li, et al. 1989. Galactosylceramidelipidosis in rhesus monkeys. Lab. Invest. 60:7A.
2. Suzuki, K., and K. Suzuki. 1985. Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species. Neurochem. Pathol. 3:53-68.
3. Svennerholm, L., M.-T. Vanier, and J.-E. Mansson. 1980 Krabbe disease: a galactosylspingosine (psychosine) lipidosis. J. Lipid Res. 21:53-64.
4. Yunis, E. J., and R. E. Lee. 1976. The morphologic similarities of human and canine globoid cell leukodystrophy. Am. J. Pathol. 85:99-107.
5. Suzuki, K., and K. Suzuki. 1995. The twitcher mouse: a model for Krabbe disease and for experimental therapies. Brain Pathol. 5:249-258.
6. Schlaepfer, W. W., and A. L. Prensky. 1972. Quantitative and qualitative study of sural nerve biopsies in Krabbe's disease. Acta Neuropathol. 20:55-66.
7. Sourander, P., and Y. Olsson. 1968. Peripheral neuropathy in globoid cell leucodystrophy (morbus Krabbe). Acta Neuropathol. 11:69-81.
8. Hogan, G. R., L. Gutmann, and S. M. Chou. 1969. The peripheral neuropathy of Krabbe's (globoid) leukodystrophy. Neurology 19:1094-1100.
9. Suzuki, K., and Y. Suzuki. 1983. Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe's disease), p. 857-880. In J. B. Stanburg, J. B. Wyngaarden, D. S. Fredrickson, et al. (ed.), Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe's disease). McGraw-Hill Book Co., New York.
10. Matsumoto, R., N. Oka, Y. Nagahama, et al. 1996. Peripheral neuropathy in late-onset Krabbe's disease: histochemical and ultrastructural findings. Acta Neuropathol. 92:635-639.
11. Andrews, J. M., and P. A. Cancilla. 1970. Cytoplasmic inclusions in human globoid cell leukodystrophy. Arch. Pathol. 89:53-55.
12. Suzuki, K. 1970. Ultrastructural study of experimental globoid cells. Lab. Invest. 23:612-619.
13. Gullotta, F., L. Pavone, F. Mollica, et al. 1979. Krabbe's disease with unusual clinical and morphological features. Neopediatrie 10:395-402.
14. D'Agostino, A. M., G. P. Sayre, and A. B. Hagles. 1963. Krabbe's disease. Arch. Neurol. 8:82-112.
15. Hagberg, B., P. Sourander, and L. Svennerholm. 1963 Diagnosis of Krabbe's infantile leucodystrophy. J. Neurol. Neurosurg. Psychiatr. 26:195-198.
16. Christomanou, H., S. Jaffe, J. Martinius, et al. 1981. Biochemical, genetic, psychometric, and neuropsychological studies in heterozygotes of a family with globoid cell leucodystrophy (Krabbe's disease). Human Genet. 58:179-183.
17. Wenger, D. A., and C. Williams. 1991. Screening for lysosomal disorders, p. 587-617. In F. A. Hommes (ed.), Techniques in diagnostic human biochemical genetics. Wiley-Liss, Inc., New York.
18. Wenger, D. A. 1997. Krabbe disease (globoid cell leukodystrophy), p. 421-431. In R. N. Rosenberg, S. B. Prusiner, S. DiMauro, et al. (ed.), Krabbe disease (globoid cell leukodystrophy). Butterworth-Heinemann, Boston.
19. Chen, Y. Q., and D. A. Wenger. 1993. Galactocerebrosidase from human urine: purification and partial characterization. Biochem. Biophys. Acta 1170:53-61.
20. Sakai, N., K. Inui, M. Midorikawa, et al. 1994. Purification and characterization of galactocerebrosidase from human lymphocytes. J. Biochem. 116:615-620.
21. Chen, Y. Q., M. A. Rafi, G. de Gala, et al. 1993. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum. Mol. Genet. 2:1841-1845.
22. Sakai, N., K. Inui, N. Fujii, et al. 1994. Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. Biochem. Biophys. Res. Comm. 198:485-491.
23. Luzi, P., M. A. Rafi, and D. A. Wenger. 1995. Structure and organization of the human galactocerebrosidase (GALC) gene. Genomics 26:407-409.
24. Luzi, P., M. A. Rafi, T. Victoria, et al. 1997. Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene, and identification of the mutation causing globoid cell leukodystrophy in this primate. Genomics 42:319-324.
25. Degasperi, R., M. A. G. Sosa, E. L. Sartorato, et al. 1996. Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. Am. J. Hum. Genet. 59:1232-1242.
26. Luzi, P., M. A. Rafi, and D. A. Wenger. 1995. Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. Hum. Mol. Genet. 4:2335-2338.
27. Luzi, P., M. A. Rafi, and D. A. Wenger. 1996. Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease. Ann. Neurol. 40:116-119.
28. Rafi, M. A., P. Luzi, Y. Q. Chen, et al. 1995. A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Hum. Mol. Genet. 4:1285-1289.
29. Tatsumi, N., K. Inui, N. Sakai, et al. 1995. Molecular defects in Krabbe disease. Hum. Mol. Genet. 4:1865-1868.
30. Wenger, D. A., M. A. Rafi, and P. Luzi. 1997. Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. Hum. Mutat. 10:268-279.
31. Rafi, M. A. 1996. Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Hum. Genet. 97:304-308.
32. Sakai, N., K. Inui, N. Tatsumi, et al. 1996. Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease. J. Neurochem. 66:1118-1124.
33. Victoria, T., M. A. Rafi, and D. A. Wenger. 1996. Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland white and cairn terriers. Genomics 33:457-462.
34. Suzuki, K. 1994. A genetic demyelinating disease globoid cell leukodystrophy: studies with animal models. J. Neuropathol. Exp. Neurol. 53:359-363.
35. Vicini, D. S., L. G. Wheaton, J. F. Zachary, et al. 1988. Peripheral nerve biopsy for diagnosis of globoid cell leukodystrophy in a dog. J. Am. Vet. Med. Assoc. 8:1087-1090.
36. England, J. D., R. P. Bohm, E. D. Roberts, et al. 1997. Mononeuropathy multiplex in rhesus monkeys with chronic Lyme disease. Ann. Neurol. 41:375-384.
37. Fujita, N., K. Suzuki, M. T. Vanier, et al. 1996. Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum. Mol. Genet. 5:711-725.
38. Matsumoto, A., M. T. Vanier, Y. Oya, et al. 1998. Minimal increment in galactosylceramidase expression is sufficient for significant phenotypic improvement in twitcher mouse. Dev. Brain Dysfunc., in press.
39. Miller, R. G. 1985. Hereditary and acquired polyneuropathies. Electrophysiologic aspects. Neurologic Clinics 3:543-556.
40. Vanier, M. T., and L. Svennerholm. 1974. Chemical pathology of Krabbe's disease. I. Lipid composition and fatty acid patterns of phosphoglycerides in brain. Acta Paediatr. Scand. 63:494-500.
41. Suzuki, K. 1971. Renal cerebroside in globoid cell leukodystrophy (Krabbe's disease). Lipids 6:433-436.
42. Bamback, B. J., H. W. Moser, K. J. Blakemore, et al. 1997. Engraftment following in utero bone marrow transplantation for globoid cell leukodystrophy. Bone Marrow Transplant 19:399-402.