Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease

Annals of Neurology

Volumn 40, Issue 1, 1996, Pages 116-119

  Luzi, Paola ^a   Rafi, Mohammad A ^a   Wenger, David A ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSYLCERAMIDASE; SIGNAL PEPTIDE;

ADULT; ARTICLE; CASE REPORT; DNA POLYMORPHISM; GENE MUTATION; GLOBOID CELL LEUKODYSTROPHY; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; SKIN FIBROBLAST; WHITE MATTER;

BRAIN; GALACTOSYLCERAMIDASE; GENE EXPRESSION; HUMANS; LEUKODYSTROPHY, GLOBOID CELL; MALE; MIDDLE AGED; POINT MUTATION; POLYMORPHISM, GENETIC; RNA, MESSENGER;

EID: 0029937014     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410400119     Document Type: Article

References (18)

1. Wenger DA, Chen YQ. Krabbe disease (globoid cell leukodystrophy). In: Rosenberg RN, Prusiner SB, DiMauro S, et al, eds. The molecular and genetic basis of neurological disease. Boston: Butterworth-Heinemann, 1993:485-495
2. Suzuki K, Suzuki Y, Suzuki K. Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe disease). In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease, 7th ed. New York: McGraw-Hill, 1995: 2671-2692
3. Krabbe K. A new familial, infantile form of diffuse brain sclerosis. Brain 1916;39:74-114
4. Crome L, Hanefield F, Patrick D, Wilson J. Late onset globoid cell leucodystrophy. Brain 1973;96:841-848
5. Thomas PK, Halpern J-P, King RHM, Patrick P. Galactosylceramide lipidosis: novel presentation as a slowly progressive spinocerebellar degeneration. Ann Neurol 1984;16:618-620
6. Verdru P, Lammens M, Dom R, et al. Globoid cell leukodystrophy: a family with both late-infantile and adult type. Neurology 1991;41:1382-1384
7. 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
8. Wenger DA, Riccardi VM. Possible misdiagnosis of Krabbe disease. J Pediatr 1976;88:76-79
9. Chen YQ, Rafi MA, de Gala G, Wenger DA. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum Mol Genet 1993;2:1841-1845
10. Luzi P, Rafi MA, Wenger DA. Structure and organization of the human galactocerebrosidase (GALC) gene. Genomics 1995;26:407-409
11. 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 Mol Genet 1995;4:1285-1289
12. Luzi P, Rafi MA, Wenger DA. Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. Hum Mol Genet 1995;4:2335-2338
13. Wenger DA, Williams CA. Screening for lysosomal disorders. In: Hommes FA, ed. Techniques in diagnostic human biochemical genetics. New York: Wiley-Liss, 1991:587-617
14. Chomczynski P, Sacchi N. Single-step method of RNA isolation by guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987;162:156-159
15. Casanova J-L, Pannetier C, Jaulin C, Kourilsky P. Optimal conditions for directly sequencing double-stranded PCR products with Sequenase. Nucleic Acids Res 1990;18:4028
16. Sanger F, Nickelson J, Coulson AR. DNA sequencing with chain termination. Proc Natl Acad Sci USA 1977;74:5463-5467
17. Luzi P, Rafi MA, Wenger DA. Krabbe disease: correlations between mutations in the GALC gene, GALC activity and clinical presentation. Am J Hum Genet 1995;57:A245 (Abstract)
18. Chen YQ, Wenger DA. Galactocerebrosidase from human urine: purification and partial characterization. Biochim Biophys Acta 1993;1170:53-61