Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. Andrews, J. M., Cancilla, P. A., Grippo, J., Menkes, J. H.Globoid cell leukodystrophy (Krabbe's disease): morphological and biochemical studies. Neurology 21: 337-352, 1971. [PubMed: 4324265] [Full Text: https://doi.org/10.1212/wnl.21.4.329-a\]
  2. Arroyo, H. A., Grippo, J., Taratuto, A., Duffau, J., Chamoles, N.Krabbe disease in monozygotic triplets. Dev. Med. Child Neurol. 33: 1101-1103, 1991. [PubMed: 1778346] [Full Text: https://doi.org/10.1111/j.1469-8749.1991.tb14833.x\]
  3. Austin, J., Suzuki, K., Armstrong, D., Brady, R. O., Bachhawat, B. K., Schlenker, J., Stumpf, D. A.Studies in globoid (Krabbe) leukodystrophy (gld). V. Controlled enzymic studies in ten human cases. Arch. Neurol. 23: 502-512, 1970. [PubMed: 5478272] [Full Text: https://doi.org/10.1001/archneur.1970.00480300024003\]
  4. Austin, J.Studies in globoid (Krabbe) leukodystrophy. I. The significance of lipid abnormalities in white matter in 8 globoid and 13 control patients. Arch. Neurol. 9: 207-231, 1963. [PubMed: 14049395] [Full Text: https://doi.org/10.1001/archneur.1963.00460090013001\]
  5. Bachhawat, B. K., Austin, J., Armstrong, D.A cerebroside sulphotransferase deficiency in a human disorder of myelin. Biochem. J. 104: 15C-17C, 1967. [PubMed: 4860468] [Full Text: https://doi.org/10.1042/bj1040015c\]
  6. Cannizzaro, L. A., Chen, Y. Q., Rafi, M. A., Wenger, D. A.Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization. Cytogenet. Cell Genet. 66: 244-245, 1994. [PubMed: 8162701] [Full Text: https://doi.org/10.1159/000133703\]
  7. Crome, L., Hanefeld, F., Patrick, D., Wilson, J.Late onset globoid cell leucodystrophy. Brain 96: 841-848, 1973. [PubMed: 4773865] [Full Text: https://doi.org/10.1093/brain/96.4.841\]
  8. D'Agostino, A. N., Sayre, G. P., Hayles, A. B.Krabbe's disease: globoid cell type of leukodystrophy. Arch. Neurol. 8: 82-96, 1963. [PubMed: 14024503] [Full Text: https://doi.org/10.1001/archneur.1963.00460010098012\]
  9. De Gasperi, R., Gama Sosa, M. A., Sartorato, E. L., Battistini, S., MacFarlane, H., Gusella, J. F., Krivit, W., Kolodny, E. H.Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. Am. J. Hum. Genet. 59: 1233-1242, 1996. Note: Erratum: Am. J. Hum. Genet. 60: 1264 only, 1997. [PubMed: 8940268]
  10. Duchen, L. W., Eicher, E. M., Jacobs, J. M., Scaravilli, F., Teixeira, F.Hereditary leucodystrophy in the mouse: the new mutant twitcher. Brain 103: 695-710, 1980. [PubMed: 7417782] [Full Text: https://doi.org/10.1093/brain/103.3.695\]
  11. Escolar, M. L., Poe, M. D., Provenzale, J. M., Richards, K. C., Allison, J., Wood, S., Wenger, D. A., Pietryga, D., Wall, D., Champagne, M., Morse, R., Krivit, W., Kurtzberg, J.Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. New Eng. J. Med. 352: 2069-2081, 2005. [PubMed: 15901860] [Full Text: https://doi.org/10.1056/NEJMoa042604\]
  12. Eto, Y., Umezawa, F., Kasai, E., Ida, I., Maekawa, K. M.Biochemical studies in mouse Krabbe's disease (Twitcher). J. Inherit. Metab. Dis. 6: 125-126, 1983. [PubMed: 6422144] [Full Text: https://doi.org/10.1007/BF01800744\]
  13. Farrell, D. F., Percy, A. K., Kaback, M. M., McKhann, G. M.Globoid cell (Krabbe) leukodystrophy: heterozygote detection in cultured skin fibroblasts. Am. J. Hum. Genet. 25: 604-609, 1973. [PubMed: 4773478]
  14. Ferraro, A.Familial form of encephalitis periaxialis diffusa. J. Nerv. Ment. Dis. 66: 329-354, 1927.
  15. Fiumara, A., Barone, R., Arena, A., Filocamo, M., Lissens, W., Pavone, L., Sorge, G.Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G-A (p.gly41ser) mutation. Clin. Genet. 80: 452-458, 2011. [PubMed: 21070211] [Full Text: https://doi.org/10.1111/j.1399-0004.2010.01572.x\]
  16. Fiumara, A., Pavone, L., Siciliano, L., Tine, A., Parano, E., Innico, G.Late-onset globoid cell leukodystrophy: report on 7 new patients. Childs Nerv. Syst. 6: 194-197, 1990. [PubMed: 2383873] [Full Text: https://doi.org/10.1007/BF01850970\]
  17. Furuya, H., Kukita, Y., Nagano, S., Sakai, Y., Yamashita, Y., Fukuyama, H., Inatomi, Y., Saito, Y., Koike, R., Tsuji, S., Fukumaki, Y., Hayashi, K., Kobayashi, T.Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. Hum. Genet. 100: 450-456, 1997. [PubMed: 9272171] [Full Text: https://doi.org/10.1007/s004390050532\]
  18. Harzer, K., Hager, H.-D., Tariverdian, G.Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies. Hum. Genet. 77: 342-344, 1987. [PubMed: 3692478] [Full Text: https://doi.org/10.1007/BF00291423\]
  19. Harzer, K., Schuster, I.Prenatal enzymatic diagnosis of Krabbe disease (globoid-cell leukodystrophy) using chorionic villi: pitfalls in the use of uncultured villi. Hum. Genet. 84: 83-85, 1989. [PubMed: 2606482] [Full Text: https://doi.org/10.1007/BF00210679\]
  20. Hatton, C., Ghanem, S. S., Koss, D. J., Abdi, I. Y., Gibbons, E., Guerreiro, R., Bras, J., International DLB Genetics Consortium, Walker, L., Gelpi, E., Heywood, W., Outeiro, T. F., Attems, J., McFarland, R., Forsyth, R., El-Agnaf, O. M., Erskine, D.Prion-like alpha-synuclein pathology in the brain of infants with Krabbe disease. Brain 145: 1257-1263, 2022. [PubMed: 34999780] [Full Text: https://doi.org/10.1093/brain/awac002\]
  21. Hofman, K. J., Naidu, S., Moser, H. W., Maumenee, I. H., Wenger, D. A.Cherry red spot in association with galactosylceramide-beta-galactosidase deficiency. J. Inherit. Metab. Dis. 10: 273-274, 1987. [PubMed: 3123790] [Full Text: https://doi.org/10.1007/BF01800078\]
  22. Hoogerbrugge, P. M., Poorthuis, B. J. H. M., Romme, A. E., van de Kamp, J. J. P., Wagemaker, G., van Bekkum, D. W.Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse. J. Clin. Invest. 81: 1790-1794, 1988. [PubMed: 3290253] [Full Text: https://doi.org/10.1172/JCI113521\]
  23. Hoogerbrugge, P. M., Suzuki, K., Suzuki, K., Poorthuis, B. J. H. M., Kobayashi, T., Wagemaker, G., van Bekkum, D. W.Donor-derived cells in the central nervous system of twitcher mice after bone marrow transplantation. Science 239: 1035-1038, 1988. [PubMed: 3278379] [Full Text: https://doi.org/10.1126/science.3278379\]
  24. Husain, A. M., Altuwaijri, M., Aldosari, M.Krabbe disease: neurophysiologic studies and MRI correlations. Neurology 63: 617-620, 2004. [PubMed: 15326231] [Full Text: https://doi.org/10.1212/01.wnl.0000134651.38196.f8\]
  25. Ichioka, T., Kishimoto, Y., Brennan, S., Santos, G. W., Yeager, A. M.Hematopoietic cell transplantation in murine globoid cell leukodystrophy (the twitcher mouse): effects on levels of galactosylceramidase, psychosine, and galactocerebrosides. Proc. Nat. Acad. Sci. 84: 4259-4263, 1987. [PubMed: 2884662] [Full Text: https://doi.org/10.1073/pnas.84.12.4259\]
  26. Igisu, H., Suzuki, K.Progressive accumulation of toxic metabolite in a genetic leukodystrophy. Science 224: 753-755, 1984. [PubMed: 6719111] [Full Text: https://doi.org/10.1126/science.6719111\]
  27. Kobayashi, T., Yamanaka, T., Jacobs, J. M., Teixeira, F., Suzuki, K.The twitcher mouse: an enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease). Brain Res. 202: 479-483, 1980. [PubMed: 7437911] [Full Text: https://doi.org/10.1016/0006-8993(80)90159-6\]
  28. Kolodner, R. D.Personal Communication. Boston, Mass. 7/8/1989.
  29. Kolodny, E. H., Raghavan, S., Krivit, W.Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. Dev. Neurosci. 13: 232-239, 1991. [PubMed: 1817026] [Full Text: https://doi.org/10.1159/000112166\]
  30. Korn-Lubetzki, I., Nevo, Y.Infantile Krabbe disease. Arch. Neurol. 60: 1643-1644, 2003. [PubMed: 14623741] [Full Text: https://doi.org/10.1001/archneur.60.11.1643\]
  31. Krabbe, K.A new familial infantile form of diffuse brain-sclerosis. Brain 39: 74-114, 1916.
  32. Krivit, W., Shapiro, E. G., Peters, C., Wagner, J. E., Cornu, G., Kurtzberg, J., Wenger, D. A., Kolodny, E. H., Vanier, M. T., Loes, D. J., Dusenbery, K., Lockman, L. A.Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. New Eng. J. Med. 338: 1119-1126, 1998. [PubMed: 9545360] [Full Text: https://doi.org/10.1056/NEJM199804163381605\]
  33. Lieberman, J. S., Oshtory, M., Taylor, R. G., Dreyfus, P. M.Perinatal neuropathy as an early manifestation of Krabbe's disease. Arch. Neurol. 37: 446-447, 1980. [PubMed: 6248003] [Full Text: https://doi.org/10.1001/archneur.1980.00500560076012\]
  34. Loonen, M. C. B., Van Diggelen, O. P., Janse, H. C., Kleijer, W. J., Arts, W. F. M.Late-onset globoid cell leucodystrophy (Krabbe's disease): clinical and genetic delineation of two forms and their relation to the early-infantile form. Neuropediatrics 16: 137-142, 1985. [PubMed: 4047347] [Full Text: https://doi.org/10.1055/s-2008-1052558\]
  35. Lyerla, T. A., Konola, J. T., Skiba, M. C., Raghavan, S.Galactocerebrosidase activity in somatic cell hybrids derived from twitcher mouse/control human fibroblasts is associated with human chromosome 17. Am. J. Hum. Genet. 44: 198-207, 1989. [PubMed: 2912067]
  36. Lyon, G., Hagberg, B., Evrard, P., Allaire, C., Pavone, L., Vanier, M.Symptomatology of late onset Krabbe's leukodystrophy: the European experience. Dev. Neurosci. 13: 240-244, 1991. [PubMed: 1817027] [Full Text: https://doi.org/10.1159/000112167\]
  37. Martin, J. J., Leroy, J. G., Ceuterick, C., Libert, J., Dodinval, P., Martin, L.Fetal Krabbe leukodystrophy: a morphologic study of two cases. Acta Neuropath. 53: 87-91, 1981. [PubMed: 7211207] [Full Text: https://doi.org/10.1007/BF00689987\]
  38. Menkes, J. H.Metabolic disease of the nervous system. In: Brennemann, J.: Practice of Pediatrics. Vol. 4. Hagerstown: W. F. Prior Co. (pub.) 1963.
  39. Nelson, E., Aurebeck, G., Osterberg, K., Berry, J., Jabbour, J. T., Bornhofen, J.Ultrastructural and chemical studies on Krabbe's disease. J. Neuropath. Exp. Neurol. 22: 414-434, 1963. [PubMed: 14045001] [Full Text: https://doi.org/10.1097/00005072-196307000-00004\]
  40. Norman, R. M., Oppenheimer, D. R., Tingey, A. H.Histological and chemical findings in Krabbe's leucodystrophy. J. Neurol. Neurosurg. Psychiat. 24: 223-232, 1961. [PubMed: 13729573] [Full Text: https://doi.org/10.1136/jnnp.24.3.223\]
  41. Petersen, E. M., Nelson, M. M., Thomson, A. J., Coetzee, E. J., Besley, G. T. N., Bain, A. D.Krabbe's disease in an infant and her fetal sibling. S. Afr. Med. J. 54: 168-170, 1978. [PubMed: 567850]
  42. Phelps, M., Aicardi, J., Vanier, M.-T.Late onset Krabbe's leukodystrophy: a report of four cases. J. Neurol. Neurosurg. Psychiat. 54: 293-296, 1991. [PubMed: 2056315] [Full Text: https://doi.org/10.1136/jnnp.54.4.293\]
  43. Rafi, M. A., Luzi, P., Chen, Y. Q., Wenger, D. A.A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Hum. Molec. Genet. 4: 1285-1289, 1995. [PubMed: 7581365] [Full Text: https://doi.org/10.1093/hmg/4.8.1285\]
  44. Rafi, M. A., Luzi, P., Zlotogora, J., Wenger, D. A.Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Hum. Genet. 97: 304-308, 1996. [PubMed: 8786069] [Full Text: https://doi.org/10.1007/BF02185759\]
  45. Sakai, N., Inui, K., Fujii, N., Fukushima, H., Nishimoto, J., Yanagihara, I., Isegawa, Y., Iwamatsu, A., Okada, S.Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. Biochem. Biophys. Res. Commun. 198: 485-491, 1994. [PubMed: 8297359] [Full Text: https://doi.org/10.1006/bbrc.1994.1071\]
  46. Siddiqi, Z. A., Sanders, D. B., Massey, J. M.Peripheral neuropathy in Krabbe disease: effect of hematopoietic stem cell transplantation. Neurology 67: 268-272, 2006. [PubMed: 16864820] [Full Text: https://doi.org/10.1212/01.wnl.0000230156.01228.33\]
  47. Siddiqi, Z. A., Sanders, D. B., Massey, J. M.Peripheral neuropathy in Krabbe disease: electrodiagnostic findings. Neurology 67: 263-267, 2006. [PubMed: 16864819] [Full Text: https://doi.org/10.1212/01.wnl.0000230153.34613.84\]
  48. Suzuki, K., Suzuki, Y.Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase. Proc. Nat. Acad. Sci. 66: 302-309, 1970. [PubMed: 5271165] [Full Text: https://doi.org/10.1073/pnas.66.2.302\]
  49. Suzuki, K.Personal Communication. Bronx, N. Y. 1972.
  50. Suzuki, Y., Suzuki, K.Krabbe's globoid cell leukodystrophy: deficiency of galactocerebrosidase in serum, leukocytes, and fibroblasts. Science 171: 73-74, 1971. [PubMed: 5538703] [Full Text: https://doi.org/10.1126/science.171.3966.73\]
  51. Svennerholm, L., Vanier, M.-T., Hakansson, G., Mansson, J.-E.Use of leukocytes in diagnosis of Krabbe disease and detection of carriers. Clin. Chim. Acta 112: 333-342, 1981. [PubMed: 7237832] [Full Text: https://doi.org/10.1016/0009-8981(81)90456-3\]
  52. Sweet, H.Twitcher (twi) is on chromosome 12. Mouse Newsletter 75: 30, 1986.
  53. Tappino, B., Biancheri, R., Mort, M., Regis, S., Corsolini, F., Rossi, A., Stroppiano, M., Lualdi, S., Fiumara, A., Bembi, B., Di Rocco, M., Cooper, D. N., Filocamo, M.Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Hum. Mutat. 31: E1894-1914, 2010. Note: Electronic Article. [PubMed: 20886637] [Full Text: https://doi.org/10.1002/humu.21367\]
  54. Thompson-Stone, R., Ream, M. A., Gelb, M., Matern, D., Orsini, J. J., Levy, P. A., Rubin, J. P., Wenger, D. A., Burton, B. K., Escolar, M. L., Kurtzberg, J.Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe disease. Molec. Genet. Metab. 134: 53-59, 2021. [PubMed: 33832819] [Full Text: https://doi.org/10.1016/j.ymgme.2021.03.016\]
  55. Tohyama, J., Vanier, M. T., Suzuki, K., Ezoe, T., Matsuda, J., Suzuki, K.Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency). Hum. Molec. Genet. 9: 1699-1707, 2000. [PubMed: 10861297] [Full Text: https://doi.org/10.1093/hmg/9.11.1699\]
  56. Tsutsumi, O., Satoh, K., Sakamoto, S., Suzuki, Y., Kato, T.Application of a galactosylceramidase microassay method to early prenatal diagnosis of Krabbe's disease. Clin. Chim. Acta 125: 265-273, 1982. [PubMed: 7172437] [Full Text: https://doi.org/10.1016/0009-8981(82)90256-x\]
  57. Turazzini, M., Beltramello, A., Bassi, R., Del Colle, R., Silvestri, M.Adult onset Krabbe's leukodystrophy: a report of 2 cases. Acta Neurol. Scand. 96: 413-415, 1997. [PubMed: 9449482] [Full Text: https://doi.org/10.1111/j.1600-0404.1997.tb00308.x\]
  58. Van Gehuchten, P.Sur l'origine des cellules globoides dans un cas de sclerose diffuse. Rev. Neurol. 94: 253-258, 1956. [PubMed: 13351148]
  59. Vanier, M. T., Svennerholm, L., Mansson, J.-E., Hakansson, G., Boue, A., Lindsten, J.Prenatal diagnosis of Krabbe disease. Clin. Genet. 20: 79-89, 1981. [PubMed: 7307314] [Full Text: https://doi.org/10.1111/j.1399-0004.1981.tb01813.x\]
  60. Verdru, P., Lammens, M., Dom, R., Van Elsen, A., Carton, H.Globoid cell leukodystrophy: a family with both late-infantile and adult type. Neurology 41: 1382-1384, 1991. [PubMed: 1891085] [Full Text: https://doi.org/10.1212/wnl.41.9.1382\]
  61. Victoria, T., Rafi, M. A., Wenger, D. A.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, 1996. [PubMed: 8661004] [Full Text: https://doi.org/10.1006/geno.1996.0220\]
  62. Wang, R. Y., Bodamer, O. A., Watson, M. S., Wilcox, W. R.Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet. Med. 13: 457-484, 2011. [PubMed: 21502868] [Full Text: https://doi.org/10.1097/GIM.0b013e318211a7e1\]
  63. Wenger, D. A., Louie, E.Pseudodeficiencies of arylsulfatase A and galactocerebrosidase activities. Dev. Neurosci. 13: 216-221, 1991. [PubMed: 1687777] [Full Text: https://doi.org/10.1159/000112163\]
  64. Wenger, D. A., Rafi, M. A., Luzi, P., Datto, J., Costantino-Ceccarini, E.Krabbe disease: genetic aspects and progress toward therapy. Molec. Genet. Metab. 70: 1-9, 2000. [PubMed: 10833326] [Full Text: https://doi.org/10.1006/mgme.2000.2990\]
  65. Wenger, D. A., Rafi, M. A., Luzi, P.Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. Hum. Mutat. 10: 268-279, 1997. [PubMed: 9338580] [Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D]
  66. Wenger, D. A., Sattler, M., Hiatt, W.Globoid cell leukodystrophy: deficiency of lactosyl ceramide beta-galactosidase. Proc. Nat. Acad. Sci. 71: 854-857, 1974. [PubMed: 4522795] [Full Text: https://doi.org/10.1073/pnas.71.3.854\]
  67. Wenger, D. A., Victoria, T., Rafi, M. A., Luzi, P., Vanier, M. T., Vite, C., Patterson, D. F., Haskins, M. H.Globoid cell leukodystrophy in Cairn and West Highland white terriers. J. Hered. 90: 138-142, 1999. [PubMed: 9987921] [Full Text: https://doi.org/10.1093/jhered/90.1.138\]
  68. Xu, C., Sakai, N., Taniike, M., Inui, K., Ozono, K.Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. J. Hum. Genet. 51: 548-554, 2006. [PubMed: 16607461] [Full Text: https://doi.org/10.1007/s10038-006-0396-3\]
  69. Young, E., Wilson, J., Patrick, A. D., Crome, L.Galactocerebrosidase deficiency in globoid cell leucodystrophy of late onset. Arch. Dis. Child. 47: 449-450, 1972. [PubMed: 5034675] [Full Text: https://doi.org/10.1136/adc.47.253.449\]
  70. Zlotogora, J., Chakraborty, S., Knowlton, R. G., Wenger, D. A.Krabbe disease locus mapped to chromosome 14 by genetic linkage. Am. J. Hum. Genet. 47: 37-44, 1990. [PubMed: 1971996]
  71. Zlotogora, J., Cohen, T.Krabbe disease and protruding ears. (Letter) Am. J. Med. Genet. 28: 759-760, 1987. [PubMed: 3425640] [Full Text: https://doi.org/10.1002/ajmg.1320280328\]
  72. Zlotogora, J., Levy-Lahad, E., Legum, C., Iancu, T. C., Zeigler, M., Bach, G.Krabbe disease in Israel. Isr. J. Med. Sci. 27: 196-198, 1991. [PubMed: 2010272]
  73. Zlotogora, J., Regev, R., Zeigler, M., Iancu, T. C., Bach, G.Krabbe disease: increased incidence in a highly inbred community. Am. J. Med. Genet. 21: 765-770, 1985. [PubMed: 4025402] [Full Text: https://doi.org/10.1002/ajmg.1320210420\]