Transplant Outcomes in Leukodystrophies

Seminars in Hematology

Volumn 47, Issue 1, 2010, Pages 70-78

  Orchard, Paul J ^a   Tolar, Jakub ^a  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER D1; ACETYLCYSTEINE; CEREBROSIDE SULFATASE; GALACTOSYLCERAMIDASE; SPHINGOLIPID ACTIVATOR PROTEIN; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; ALLOGENEIC STEM CELL TRANSPLANTATION; ARTICLE; CLINICAL FEATURE; CORD BLOOD STEM CELL TRANSPLANTATION; DISEASE COURSE; ENZYME ACTIVITY; GENE MUTATION; GLOBOID CELL LEUKODYSTROPHY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; LEUKODYSTROPHY; LYSOSOME STORAGE DISEASE; METACHROMATIC LEUKODYSTROPHY; NONHUMAN; PRIORITY JOURNAL; THERAPY EFFECT; TREATMENT OUTCOME;

ADRENOLEUKODYSTROPHY; CORD BLOOD STEM CELL TRANSPLANTATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; LEUKODYSTROPHY, GLOBOID CELL; LEUKODYSTROPHY, METACHROMATIC; TRANSPLANTATION, HOMOLOGOUS; TREATMENT OUTCOME;

EID: 72449121973     PISSN: 00371963     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.seminhematol.2009.10.006     Document Type: Article

References (75)

1. Berger J., Moser H.W., and Forss-Petter S. Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment. Curr Opin Neurol 14 (2001) 305-312
2. Goldman S.A., Schanz S., and Windrem M.S. Stem cell-based strategies for treating pediatric disorders of myelin. Hum Mol Genet 17 (2008) R76-R83
3. Aicardi J. The inherited leukodystrophies: a clinical overview. J Inherit Metab Dis 16 (1993) 733-743
4. Porter M.T., Fluharty A.L., and Kihara H. Correction of abnormal cerebroside sulfate metabolism in cultured metachromatic leukodystrophy fibroblasts. Science 172 (1971) 1263-1265
5. Fratantoni J.C., Hall C.W., and Neufeld E.F. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science 162 (1968) 570-572
6. Scaravilli F., and Jacobs J.M. Improved myelination in nerve grafts from the leucodystrophic twitcher into trembler mice: evidence for enzyme replacement. Brain Res 237 (1982) 163-172
7. Hobbs J.R. Bone marrow transplantation for inborn errors. Lancet 2 (1981) 735-739
8. Suzuki K., and Chen G. Metachromatic leucodystrophy: isolation and chemical analysis of metachromatic granules. Science 151 (1966) 1231-1233
9. Gieselmann V., Polten A., Kreysing J., and von Figura K. Molecular genetics of metachromatic leukodystrophy. J Inherit Metab Dis 17 (1994) 500-509
10. Eng B., Nakamura L.N., O'Reilly N., Schokman N., Nowaczyk M.M., Krivit W., et al. Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (metachromatic leukodystrophy). Hum Mutat 22 (2003) 418-419
11. Heinisch U., Zlotogora J., Kafert S., and Gieselmann V. Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet 56 (1995) 51-57
12. Zlotogora J., Bach G., Bosenberg C., Barak Y., von Figura K., and Gieselmann V. Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews. Hum Mutat 5 (1995) 137-143
13. Gieselmann V. Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. Acta Paediatr Suppl 97 (2008) 15-21
14. Fluharty A.L., Meek W.E., and Kihara H. Pseudo arylsulfatase A deficiency: evidence for a structurally altered enzyme. Biochem Biophys Res Commun 112 (1983) 191-197
15. Sedel F., Tourbah A., Fontaine B., Lubetzki C., Baumann N., Saudubray J.M., et al. Leukoencephalopathies associated with inborn errors of metabolism in adults. J Inherit Metab Dis 31 (2008) 295-307
16. Herz B., and Bach G. Arylsulfatase A in pseudodeficiency. Hum Genet 66 (1984) 147-150
17. Gieselmann V., Zlotogora J., Harris A., Wenger D.A., and Morris C.P. Molecular genetics of metachromatic leukodystrophy. Human Mutat 4 (1994) 233-242
18. Scriver C.R., Sly W.S., Childs B., Beaudet A.L., Valle D., and Kinzler K.W. The metabolic and molecular bases of inherited disease. 8th ed. (2001), McGraw-Hill Professional, New York 3695-3724
19. Biffi A., Lucchini G., Rovelli A., and Sessa M. Metachromatic leukodystrophy: an overview of current and prospective treatments. Bone Marrow Transplant 42 Suppl 2 (2008) S2-S6
20. Krivit W., Shapiro E., Kennedy W., Lipton M., Lockman L., Smith S., et al. Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation. N Engl J Med 322 (1990) 28-32
21. Orchard P.J., Blazar B.R., Wagner J., Charnas L., Krivit W., and Tolar J. Hematopoietic cell therapy for metabolic disease. J Pediatr 151 (2007) 340-346
22. Peters C., and Kriviit W. Metabolic diseases. In: Ball E. (Ed). Hemapoietic stem cell therapy (2000), Churchill Livingstone, Philadelphia 169-183
23. Peters C., and Steward C.G. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 31 (2003) 229-239
24. Peters C. Hematopoietic stem cell transplantation for storage diseases. In: Appelbaum F.R., Forman S.J., and Negrin R.S. (Eds). Thomas' hematopoietic cell transplantation: stem cell transplantation. 4th ed. (2009), Wiley, Oxford, UK 1136-1162
25. Gorg M., Wilck W., Granitzny B., Suerken A., Lukacs Z., Ding X., et al. Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up. J Child Neurol 22 (2007) 1139-1142
26. Solders G., Celsing G., Hagenfeldt L., Ljungman P., Isberg B., and Ringden O. Improved peripheral nerve conduction, EEG and verbal IQ after bone marrow transplantation for adult metachromatic leukodystrophy. Bone Marrow Transplant 22 (1998) 1119-1122
27. Pierson T.M., Bonnemann C.G., Finkel R.S., Bunin N., and Tennekoon G.I. Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Ann Neurol 64 (2008) 583-587
28. Krabbe K. A new familial, infantile form of diffuse brain sclerosis. Brain 39 (1916) 74-114
29. Suzuki K., and Suzuki Y. Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase. Proc Natl Acad Sci U S A 66 (1970) 302-309
30. Zlotogora J., Chakraborty S., Knowlton R.G., and Wenger D.A. Krabbe disease locus mapped to chromosome 14 by genetic linkage. Am J Hum Genet 47 (1990) 37-44
31. Chen Y.Q., Rafi M.A., de Gala G., and Wenger D.A. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum Mol Genet 2 (1993) 1841-1845
32. Tatsumi N., Inui K., Sakai N., Fukushima H., Nishimoto J., Yanagihara I., et al. Molecular defects in Krabbe disease. Hum Mol Genet 4 (1995) 1865-1868
33. Igisu H., and Suzuki K. Progressive accumulation of toxic metabolite in a genetic leukodystrophy. Science 224 (1984) 753-755
34. Suzuki K. Twenty five years of the "psychosine hypothesis": a personal perspective of its history and present status. Neurochem Res 23 (1998) 251-259
35. White A.B., Givogri M.I., Lopez-Rosas A., Cao H., van Breemen R., Thinakaran G., et al. Psychosine accumulates in membrane microdomains in the brain of krabbe patients, disrupting the raft architecture. J Neurosci 29 (2009) 6068-6077
36. Scriver C.R., Sly W.S., Childs B., Beaudet A.L., Valle D., and Kinzler K.W. The metabolic and molecular bases of inherited disease (2001), McGraw-Hill Professional, New York 3669-3694
37. Krivit W., Shapiro E.G., Peters C., Wagner J.E., Cornu G., Kurtzberg J., et al. Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. N Engl J Med 338 (1998) 1119-1126
38. Escolar M.L., Poe M.D., Martin H.R., and Kurtzberg J. A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. Pediatrics 118 (2006) e879-e889
39. Escolar M.L., Poe M.D., Provenzale J.M., Richards K.C., Allison J., Wood S., et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med 352 (2005) 2069-2081
40. Duffner P.K., Caggana M., Orsini J.J., Wenger D.A., Patterson M.C., Crosley C.J., et al. Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol 40 (2009) 245-252
41. Meikle P.J., Grasby D.J., Dean C.J., Lang D.L., Bockmann M., Whittle A.M., et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab 88 (2006) 307-314
42. Duffner P.K., Caviness Jr. V.S., Erbe R.W., Patterson M.C., Schultz K.R., Wenger D.A., et al. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med 11 (2009) 450-454
43. Kagitani-Shimono K., Mohri I., Yagi T., Taniike M., and Suzuki K. Peripheral neuropathy in the twitcher mouse: accumulation of extracellular matrix in the endoneurium and aberrant expression of ion channels. Acta Neuropathol 115 (2008) 577-587
44. Kondo A., Hoogerbrugge P.M., Suzuki K., Poorthuis B.J., Van Bekkum D.W., and Suzuki K. Pathology of the peripheral nerve in the twitcher mouse following bone marrow transplantation. Brain Res 460 (1988) 178-183
45. Luzi P., Rafi M.A., Zaka M., Rao H.Z., Curtis M., Vanier M.T., et al. Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation. Mol Genet Metab 86 (2005) 150-159
46. Lim Z.Y., Ho A.Y., Abrahams S., Fensom A., Aldouri M., Pagliuca A., et al. Sustained neurological improvement following reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation for late-onset Krabbe disease. Bone Marrow Transplant 41 (2008) 831-832
47. Cartier N., and Aubourg P. Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy. Curr Opin Mol Ther 10 (2008) 471-478
48. Igarashi M., Schaumburg H.H., Powers J., Kishmoto Y., Kolodny E., and Suzuki K. Fatty acid abnormality in adrenoleukodystrophy. J Neurochem 26 (1976) 851-860
49. Moser A.B., Kreiter N., Bezman L., Lu S., Raymond G.V., Naidu S., et al. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol 45 (1999) 100-110
50. Moser H.W. Clinical and therapeutic aspects of adrenoleukodystrophy and adrenomyeloneuropathy. J Neuropathol Exp Neurol 54 (1995) 740-745
51. Mahmood A., Dubey P., Moser H.W., and Moser A. X-linked adrenoleukodystrophy: Therapeutic approaches to distinct phenotypes. Pediatr Transplant 9 Suppl (2005) 55-62
52. Moser H.W., Raymond G.V., and Dubey P. Adrenoleukodystrophy: new approaches to a neurodegenerative disease. JAMA 294 (2005) 3131-3134
53. Powers J.M., Liu Y., Moser A.B., and Moser H.W. The inflammatory myelinopathy of adreno-leukodystrophy: cells, effector molecules, and pathogenetic implications. J Neuropathol Exp Neurol 51 (1992) 630-643
54. McGuinness M.C., Griffin D.E., Raymond G.V., Washington C.A., Moser H.W., and Smith K.D. Tumor necrosis factor-alpha and X-linked adrenoleukodystrophy. J Neuroimmunol 61 (1995) 161-169
55. McGuinness M.C., and Smith K.D. Cerebral inflammation in X-linked adrenoleukodystrophy. Arch Immunol Ther Exp 47 (1999) 281-287
56. Paintlia A.S., Gilg A.G., Khan M., Singh A.K., Barbosa E., and Singh I. Correlation of very long chain fatty acid accumulation and inflammatory disease progression in childhood X-adrenoleukodystrophy: implications for potential therapies. Neurobiol Dis 14 (2003) 425-439
57. Moser H.W., Powers J.M., and Smith K.D. Adrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oil. Brain Pathol 5 (1995) 259-266
58. Powers J.M., Pei Z., Heinzer A.K., Deering R., Moser A.B., Moser H.W., et al. Adreno-leukodystrophy: oxidative stress of mice and men. J Neuropathol Exp Neurol 64 (2005) 1067-1079
59. Aubourg P., Blanche S., Jambaque I., Rocchiccioli F., Kalifa G., Naud-Saudreau C., et al. Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med 322 (1990) 1860-1866
60. Moser H.W., Tutschka P.J., Brown III F.R., Moser A.E., Yeager A.M., Singh I., et al. Bone marrow transplant in adrenoleukodystrophy. Neurology 34 (1984) 1410-1417
61. Shapiro E., Krivit W., Lockman L., Jambaque I., Peters C., Cowan M., et al. Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. Lancet 356 (2000) 713-718
62. Lu J.F., Lawler A.M., Watkins P.A., Powers J.M., Moser A.B., Moser H.W., et al. A mouse model for X-linked adrenoleukodystrophy. Proc Natl Acad Sci U S A 94 (1997) 9366-9371
63. Yamada T., Shinnoh N., Kondo A., Uchiyama A., Shimozawa N., Kira J., et al. Very-long-chain fatty acid metabolism in adrenoleukodystrophy protein-deficient mice. Cell Biochem Biophys 32 (2000) 239-246
64. Eichler F., and Van Haren K. Immune response in leukodystrophies. Pediatric Neurology 37 (2007) 235-244
65. Yamada T., Ohyagi Y., Shinnoh N., Kikuchi H., Osoegawa M., Ochi H., et al. Therapeutic effects of normal cells on ABCD1 deficient cells in vitro and hematopoietic cell transplantation in the X-adrenoleukodystrophy mouse model. J Neurol Sci 218 (2004) 91-97
66. Eichler F.S., Ren J.Q., Cossoy M., Rietsch A.M., Nagpal S., Moser A.B., et al. Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?. Ann Neurol 63 (2008) 729-742
67. Flavigny E., Sanhaj A., Aubourg P., and Cartier N. Retroviral-mediated adrenoleukodystrophy-related gene transfer corrects very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts: implications for therapy. FEBS Lett 448 (1999) 261-264
68. Peters C., Charnas L.R., Tan Y., Ziegler R.S., Shapiro E.G., DeFor T., et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 104 (2004) 881-888
69. Boelens J.J. Trends in haematopoietic cell transplantation for inborn errors of metabolism. J Inherit Metab Dis 29 (2006) 413-420
70. Tolar J., Orchard P.J., Bjoraker K.J., Ziegler R.S., Shapiro E.G., and Charnas L. N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy. Bone Marrow Transplant 39 (2007) 211-215
71. Loes D.J., Stillman A.E., Hite S., Shapiro E., Lockman L., Latchaw R.E., et al. Childhood cerebral form of adrenoleukodystrophy: short-term effect of bone marrow transplantation on brain MR observations. AJNR Am J Neuroradiol 15 (1994) 1767-1771
72. Krivit W., Sung J.H., Shapiro E.G., and Lockman L.A. Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases. Cell Transplant 4 (1995) 385-392
73. Kennedy D.W., and Abkowitz J.L. Kinetics of central nervous system microglial and macrophage engraftment: analysis using a transgenic bone marrow transplantation model. Blood 90 (1997) 986-993
74. Priller J., Flugel A., Wehner T., Boentert M., Haas C.A., Prinz M., et al. Targeting gene-modified hematopoietic cells to the central nervous system: use of green fluorescent protein uncovers microglial engraftment. Nat Med 7 (2001) 1356-1361
75. Tanaka R., Komine-Kobayashi M., Mochizuki H., Yamada M., Furuya T., Migita M., et al. Migration of enhanced green fluorescent protein expressing bone marrow-derived microglia/macrophage into the mouse brain following permanent focal ischemia. Neuroscience 117 (2003) 531-539