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Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD)


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1. Krabbe K. A new familial infantile form of diffuse brain-sclerosis. Brain. 1916; 39: 74-114.10.1093/brain/39.1-2.74Search in Google Scholar

2. Graziano AC, Cardile V. History, genetic, and recent advances on Krabbe disease. Gene. 2015; 555(1): 2-13.10.1016/j.gene.2014.09.04625260228Search in Google Scholar

3. Liao P, Gelinas J, Sirrs S. Phenotypic variability of krabbe disease across the lifespan. Can J Neurol Sci. 2014; 41(1): 5-12.10.1017/S031716710001618824384330Search in Google Scholar

4. Tappino B, Biancheri R, Mort M, Regis S, Corsolini F, Rossi A, Stroppiano M, et al. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Hum Mutat. 2010; 31: E1894-1914.10.1002/humu.21367305242020886637Search in Google Scholar

5. Luzi P, Rafi MA, Wenger DA. Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease. Ann Neurol. 1996; 40(1): 116-9.10.1002/ana.4104001198687180Search in Google Scholar

6. De Gasperi R, Gama Sosa MA, Sartorato EL, Battistini S, MacFarlane H, Gusella JF, Krivit W, Kolodny EH. Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. Am J Hum Genet. 1996; 59(6): 1233-42.Search in Google Scholar

7. 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. 2011; 80: 452-458.10.1111/j.1399-0004.2010.01572.x21070211Search in Google Scholar

8. Zlotogora J, Regev R, Zeigler M, Iancu TC, Bach G. Krabbe disease: increased incidence in a highly inbred community. Am J Med Genet. 1985; 21: 765-770.10.1002/ajmg.13202104204025402Search in Google Scholar

9. Wenger DA, Rafi MA, Luzi P, Datto J. Costantino- Ceccarini, E. Krabbe disease: genetic aspects and progress toward therapy. Molec Genet Metab. 2000; 70: 1-9.10.1006/mgme.2000.299010833326Search in Google Scholar

10. Suzuki Y, Suzuki K. Krabbe's globoid cell leukodystrophy: deficiency of galactocerebrosidase in se rum, leukocytes, and fibroblasts. Science. 1971; 171: 73-74.10.1126/science.171.3966.735538703Search in Google Scholar

11. Crome L. Hanefeld F, Patrick D, Wilson J. Late onset globoid cell leucodystrophy. Brain. 1973; 96: 841-848.10.1093/brain/96.4.8414773865Search in Google Scholar

12. Phelps M, Aicardi J, Vanier MT. Late onset Krabbe's leukodystrophy: a report of four cases. J Neurol Neurosurg Psychiat. 1991; 54: 293-296.10.1136/jnnp.54.4.2934884812056315Search in Google Scholar

13. Verdru P, Lammens M, Dom R, Van Elsen A, Carton H. Globoid cell leukodystrophy: a family with both late-infantile and adult type. Neurology. 1991; 41: 1382-1384.10.1212/WNL.41.9.13821891085Search in Google Scholar

14. Kolodny EH, Raghavan S, Krivit W. Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. Dev Neurosci. 1991; 13: 232-239.10.1159/0001121661817026Search in Google Scholar

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. 2011; 80: 452-458.10.1111/j.1399-0004.2010.01572.x21070211Search in Google Scholar

16. Rafi MA, Luzi P, Chen YQ, Wenger DA. 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. 1995; 4: 1285-1289.10.1093/hmg/4.8.12857581365Search in Google Scholar

17. Rafi MA, Luzi P, Zlotogora J, Wenger DA. Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Hum Genet. 1996; 97: 304-308.10.1007/BF021857598786069Search in Google Scholar

18. 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. 2006; 51: 548-554.10.1007/s10038-006-0396-316607461Search in Google Scholar

19. Furuya H, Kukita Y, Nagano S, Sakai Y, Yamashita Y, Fukuyama H, Inatomi Y, et al. Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. Hum Genet. 1997; 100: 450-456.10.1007/s0043900505329272171Search in Google Scholar

20. Krivit W, Shapiro EG, Peters C, Wagner JE, Cornu G, Kurtzberg J, Wenger DA, et al. Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. New Eng. J Med. 1998; 338: 1119-1126.Search in Google Scholar

21. Escolar ML, Poe MD, Provenzale JM, Richards KC, Allison J, Wood S, Wenger DA, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease. New Eng J Med. 2005; 352: 2069-2081.10.1056/NEJMoa04260415901860Search in Google Scholar

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Medicine, Basic Medical Science, History and Ethics of Medicine, Clinical Medicine, other, Social Sciences, Education