Early infantile Krabbe disease: Results of the world-wide Krabbe registry

Pediatric Neurology

Volumn 45, Issue 3, 2011, Pages 141-148

  Duffner, Patricia K ^a   Barczykowski, Amy ^b   Jalal, Kabir ^b   Yan, Li ^b   Kay, Denise M ^c   Carter, Randy L ^b  

^a UNIVERSITY AT BUFFALO   (United States)

^b UNIVERSITY AT BUFFALO   (United States)

^c WADSWORTH CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GALACTOSYLCERAMIDASE;

ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CRYING; ENZYME ACTIVITY; EVOKED BRAIN STEM RESPONSE; EVOKED VISUAL RESPONSE; FEMALE; GLOBOID CELL LEUKODYSTROPHY; HUMAN; INFANT; IRRITABILITY; LUMBAR PUNCTURE; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD; NERVE CONDUCTION; NERVE CONDUCTION DISORDER; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PARENT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; QUESTIONNAIRE;

AGE OF ONSET; ALLELES; CEREBROSPINAL FLUID PROTEINS; DNA; DNA MUTATIONAL ANALYSIS; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; EVOKED POTENTIALS, VISUAL; FEMALE; GALACTOSYLCERAMIDASE; GROWTH; HUMANS; INFANT; INFANT, NEWBORN; KAPLAN-MEIER ESTIMATE; LEUKODYSTROPHY, GLOBOID CELL; MAGNETIC RESONANCE IMAGING; MALE; NEURAL CONDUCTION; NEUROLOGIC EXAMINATION; PARENTS; QUESTIONNAIRES; REGISTRIES; SURVIVAL ANALYSIS;

EID: 80051513009     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2011.05.007     Document Type: Article

References (24)

1. D.A. Wenger, K. Suzuki, and Y. Suzuki Galctosylceramide lipidosis: Globoid cell leukodystrophy (Krabbe disease) C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Childs, B. Vogelstein, The metabolic and molecular bases of inherited disease 2001 McGraw Hill New York 3669 3694
2. M.L. Escolar, M.D. Poe, and J.M. Provenzale Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease N Engl J Med 352 2005 2069 2081 (Pubitemid 40664308)
3. P.K. Duffner, M. Caggana, and J.J. Orsini Newborn screening for Krabbe disease: the New York State Model Pediatr Neurol 40 2009 245 252
4. B. Tappino, R. Biancheri, and M. Mort Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease Hum Mutat 31 2010 E1894 E1914
5. D.A. Wenger, M.A. Rafi, and P. Luzi Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications Hum Mutat 10 1997 268 279 (Pubitemid 27430501)
6. M. Rafi, P. Luzi, Y.Q. Chen, and D.A. Wenger 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 1995 1286 1289
7. K. Krabbe A new familial infantile form of diffuse brain-sclerosis Brain 39 1916 74 114
8. K. Suzuki, and Y. Suzuki Globoid cell leucodystrophy (Krabbe's disease): Deficiency of galactocerebroside beta galactosidase Proc Natl Acad Sci USA 66 1970 302 309
9. Y.Q. Chen, M.A. Rafi, G. de Gala, and D.A. Wenger Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy Hum Mol Genet 2 1993 1841 1845 (Pubitemid 23326609)
10. B. Hagberg, H. Kollberg, P. Sourander, and H.O. Akesson Infantile globoid cell leucodystrophy: A clinical and genetic study of 32 Swedish cases 1953-1967 Neuropaediatrie 1 1969 74 88
11. P.K. Duffner, K. Jalal, and R.L. Carter The Hunter's Hope Krabbe family database Pediatr Neurol 40 2009 13 18
12. B. Hagberg, P. Sourander, and L. Svennerholm Diagnosis of Krabbe's infantile leucodystrophy J Neurol Neurosurg Psychiatry 26 1963 195 198
13. D.A. Wenger, M.A. Rafi, P. Luzi, J. Datto, and E. Costantino-Ceccarini Krabbe disease: Genetic aspects and progress toward therapy Mol Genet Metab 70 2000 1 9 (Pubitemid 30396199)
14. K. Jalal, C. Carter, L. Yan, A. Barczykowski, and P. Duffner The effect of galactocerebrosidase (GALC) activity on age of symptom onset in Krabbe disease (KD) Mol Genet Metab 102 Suppl. 2011 S22
15. A.M. Husain, M.A. Altuwaijri, and M.D. Aldosari Krabbe disease: Neurophysiologic studies and MRI correlations Neurology 63 2004 617 620 (Pubitemid 39100814)
16. P. McGraw, L. Liang, M. Escolar, S. Mukundan, J. Kurtzberg, and J.M. Provenzale Krabbe disease treated with hematopoietic stem cell transplantation: Serial assessment of anisotropy measurements-initial experience Radiology 236 2005 221 230 (Pubitemid 40853316)
17. D.J. Loes, C. Peters, and W. Krivit Globoid cell leukodystrophy: Distinguishing early-onset from late onset disease using a brain image scoring method AJNR 20 1999 316 323 (Pubitemid 30418723)
18. R. Barone, K. Bruhl, P. Stoeter, A. Fiumara, L. Pavone, and M. Beck Clinical and neuroradiological findings in classic infantile and late-onset globoid cell leukodystrophy (Krabbe disease) Am J Med Genet 63 1996 209 217
19. S.J. Feanny, S.H. Chuang, L.E. Becker, and J.T.R. Clarke Intracerebral paraventricular hyperdensities: A new CT sign in Krabbe globoid cell leukodystrophy J Inherit Metab Dis 10 1987 24 27 (Pubitemid 17021353)
20. T.Z. Baram, A.M. Goldman, and A.K. Percy Krabbe disease: Specific MRI and CT findings Neurology 36 1986 111 115 (Pubitemid 16186065)
21. E. Kwan, J. Drace, and D. Enzmann Specific CT findings in Krabbe disease AJNR 143 1984 665 670 (Pubitemid 14067892)
22. M. Aldosari, M. Altuwaijri, and A.M. Husain Brain-stem auditory and visual evoked potentials in children with Krabbe disease Clin Neurophysiol 115 2004 1653 1656 (Pubitemid 38760311)
23. Z.A. Siddiqi, D.B. Sanders, and J.M. Massey Peripheral neuropathy in Krabbe disease: Electrodiagnostic findings Neurology 67 2006 263 267 (Pubitemid 44305410)
24. H.W. Moser Peripheral nerve involvement in Krabbe disease: A guide to therapy selection and evaluation Neurology 67 2006 201 220