Globoid cell leukodystrophy in cairn and West Highland white terriers

Journal of Heredity

Volumn 90, Issue 1, 1999, Pages 138-142

  Wenger, David A ^a   Victoria, T ^a   Rafi, M A ^a   Luzi, P ^a   Vanier, M T ^b   Vite, C ^c   Patterson, D F ^c   Haskins, M H ^c  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b INSERM   (France)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GALACTOSYLCERAMIDASE; MYELIN;

ANIMAL CELL; ANIMAL MODEL; AUTOSOMAL RECESSIVE DISORDER; CONFERENCE PAPER; CONTROLLED STUDY; DOG; ENZYME DEFICIENCY; GENE MUTATION; GLOBOID CELL LEUKODYSTROPHY; NEUROLOGIC DISEASE; NEWBORN; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

ANIMALS; BRAIN CHEMISTRY; CELLS, CULTURED; DOG DISEASES; DOGS; FIBROBLASTS; GALACTOSYLCERAMIDASE; GENOTYPE; HUMANS; LEUKODYSTROPHY, GLOBOID CELL; LIPIDS; MAGNETIC RESONANCE IMAGING; MICE; TRANSFECTION;

ANIMALIA; CANIS FAMILIARIS;

EID: 0032924637     PISSN: 00221503     EISSN: None     Source Type: Journal    
DOI: 10.1093/jhered/90.1.138     Document Type: Conference Paper

References (32)

1. Bambach BJ, Moser HW, Blakemore K, Corson VL, Griffin CA, Noga SJ, Perlman EJ, Zuckerman R, Wenger DA, and Jones RJ, 1997. Engraftment following in utero bone marrow transplantation for globoid cell leukodystrophy. Bone Marrow Transplant 19:399-402.
2. Baskin G, Alroy J, Li Y-T, Dayal Y, Raghavan, SS, and Sharer L, 1989. Galactosylceramide-lipidosis in rhesus monkeys. Lab Invest 60:7A.
3. Chen YQ, Rafi, MA, deGala G, and Wenger DA, 1993. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum Mol Genet 2:1841-1845.
4. Cozzi F, Vite CH, Wenger DA, Victoria T, and Haskins M, in press. MR imaging and electrophysiological abnormalities in a case of globoid cell leukodystrophy in a dog. J Small Anim Pract.
5. Fankhauser R, Luginbuhl H, and Hartley WJ, 1963. Leukodystrophie vom typus Krabbe beim hund. Schweiz Arch Tierheilkd 105:198-207.
6. Fletcher TF, Kurtz HJ, and Low DG, 1966. Globoid cell leukodystrophy (Krabbe type) in the dog. J Am Vet Med Assoc 149:165-172.
7. Fujita N, Suzuki K, Vanier MT, Popko B, Maeda N, Klein A, Henseler M, Sandhoff K, Nakayasu H, and Suzuki K, 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.
8. Haskins ME, Desnick RJ, DiFerrante N, Jezyk PF, and Patterson DF, 1984. β-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII. Pediatr Res 18:980-984.
9. Hoogerbrugge PM, Poorthuis BJ, Komme AE, van de Kamp JJ, Wagemaker G, and van Bekkum DW, 1988a. Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse. J Clin Invest 81:1790-1794.
10. Hoogerbrugge PM, Suzuki K, Suzuki K, Poorthuis BJHM, Kobayashi T, Wagemaker G, and Bekkum DWV, 1988b. Donor derived cells in the central nervous system of twitcher mice after bone marrow transplantation. Science 239:1035-1038.
11. Ichioka T, Kishimoto Y, Brennan S, Santos GW, and Yeager AM, 1987. Hematopoietic cell transplantation in murine globoid cell leukodystrophy (the twitcher mouse): effects on levels of galactosylceramidase, psychosine, and galactocerebrosides. Proc Natl Acad Sci USA 84:4259-4263.
12. Igisu I and Suzuki K, 1984. Progressive accumulation of toxic metabolite in a genetic leukodystrophy. Science 224:753-755.
13. Johnson KJ, 1970. Globoid cell leukodystrophy in the cat. J Am Vet Med Assoc 157:2057-2064.
14. Kelly WR, Clague AE, Barns RJ, Bate MJ, and MacKay BM, 1983. Canine α-L-fucosidosis: a storage disease of springer spaniels. Acta Neuropathol (Berl) 60:9-16.
15. Kobayashi T, Yamanaka T, Jacobs JM, Teixera F, and Suzuki, 1980. The twitcher mouse. An enzymatically authentic murine model of human globoid cell leukodystrophy (Krabbe disease). Brain Res 202:479-483.
16. Luzi P, Rafi MA, and Wenger DA, 1995. Structure and organization of the human galactocerebrosidase (GALC) gene. Genomics 26:407-409.
17. Luzi P, Rafi MA, Victoria T, Baskin GB, and Wenger DA, 1997. Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. Genomics 42: 319-324.
18. Matsumoto A, Vanier MT, Oya Y, Kelly D, Popko B, Wenger DA, Suzuki K, and Suzuki K, 1998. Transgenic introduction of human galactosylceramidase into twitcher mouse: Significant phenotype improvement with minimal expression. Dev Brain Dysfunc 10:142-154.
19. Percy AK, Odrezin GT, Knowles PD, Rouah E, and Armstrong DD, 1994. Globoid cell leukodystrophy: comparison of neuropathology with magnetic resonance imaging. Acta Neuropathol 88:26-32.
20. Pritchard DH, Napthine DV, and Sinclair AJ, 1980. Globoid cell leukodystrophy in polled Dorset sheep. Vet Pathol 17:399-405.
21. Rafi MA, Fugaro J, Amini S, Luzi P, de Gala G, Victoria T, Dubell C, Shahinfar M, and Wenger DA, 1996. Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC activity to neighboring cells. Biochem Mol Med 58:142-150.
22. Sakai N, Inui K, Fijii N, Fukushima H, Nishimoto J, Yanagihara I, Isegawa Y, Iwamatsu D, and Okada S, 1994. Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. Biochem Biophys Res Commun 198:485-491.
23. Sakai N, Inui K, Tatsumi N, Fukushima H, Nishigaki T, Taniike M, Nishimoto J, Tsukamoto H, Yanagihara I, Ozono K, and Okada S, 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.
24. Shapiro E, Lockman L, Kennedy W, Zimmerman D, Kolodny E, Raghavan S, Wiederschain G, Wenger DA, Sung JH, Summers CG, and Krivit W, 1991. Bone marrow transplantation as treatment for globoid cell leukodystrophy. In: Treatment of genetic disease (Desnick RJ, ed). New York: Churchill Livingstone; 221-236.
25. Shull RM, Munger RJ, Spellacy E, Hall CW, Constantopoulos G, and Neufeld EF, 1982. Canine α-L-iduronidase deficiency. A model of mucopolysaccharidosis I. Am J Pathol 109:244-248.
26. Suzuki K and Suzuki K, 1985. Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species. Neurochem Pathol 3:53-68.
27. Suzuki Y, Austin J, Armstrong D, Suzuki K, Schlenker J, and Fletcher T, 1970. Studies in globoid cell leukodystrophy: enzymatic and lipid findings in the canine form. Exp Neurol 29:65-75.
28. Victoria T, Rafi MA, and Wenger DA, 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.
29. Wenger DA, 1997. Krabbe disease (globoid cell leukodystrophy). In: The molecular and genetic basis of neurological disease, 2nd ed (Rosenberg RN, Prusiner SB, DiMauro S, and Barchi RL, eds). Boston: Butterworth-Heinemann; 421-431.
30. Wenger DA, Rafi MA, and Luzi P, 1997. Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. Hum Mutat 10: 268-279.
31. Yajima K, Fletcher TF, and Suzuki K, 1977. Canine globoid cell leukodystrophy. Part 1. Further ultrastructural study of the typical lesion. J Neurol Sci 33:179-197.
32. Yeager AM, Brennan S, Tiffany C, Moser HW, and Santos GW, 1984. Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse. Science 225:1053-1054.