Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy

Annals of Neurology

Volumn 64, Issue 5, 2008, Pages 583-587

  Pierson, Tyler Mark ^a,b   Bonnemann, Carsten G ^a   Finkel, Richard S ^a   Bunin, Nancy ^a   Tennekoon, Gihan I ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE; METHYLPREDNISOLONE; SULFATIDE; TACROLIMUS;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CORD BLOOD STEM CELL TRANSPLANTATION; DISEASE COURSE; ENZYME ANALYSIS; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GRAFT VERSUS HOST REACTION; HUMAN; MALE; MEDIAN NERVE; METACHROMATIC LEUKODYSTROPHY; NERVE CONDUCTION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TREATMENT OUTCOME; UMBILICAL CORD BLOOD;

AGE FACTORS; BRAIN; CHILD; COGNITION DISORDERS; CORD BLOOD STEM CELL TRANSPLANTATION; DISEASE PROGRESSION; EARLY DIAGNOSIS; FEMALE; HUMANS; INFANT; LEUKODYSTROPHY, METACHROMATIC; MAGNETIC RESONANCE IMAGING; MALE; NEURAL CONDUCTION; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; OUTCOME ASSESSMENT (HEALTH CARE); PREDICTIVE VALUE OF TESTS; PROGNOSIS; TREATMENT OUTCOME;

EID: 57749098901     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.21522     Document Type: Article

References (23)

1. Gieselmann V, Zlotogora J, Harris A, et al. Molecular genetics of metachromatic leukodystrophy. Hum Mutat 1994;4:233-242.
2. Gieselmann V. Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. Acta Paediatr Suppl 2008;97:15-21.
3. Penzien JM, Kappler J, Herschkowitz N, et al. Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease. Am J Hum Genet 1993;52:557-564.
4. Geuze HJ, Slot JW, Strous GJ, et al. Possible pathways for lysosomal enzyme delivery. J Cell Biol 1985;101:2253-2262.
5. Fratantoni JC, Hall CW, Neufeld EF. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science 1968;162:570-572.
6. Willingham MC, Pastan IH, Sahagian GG, et al. Morphologic study of the internalization of a lysosomal enzyme by the mannose 6-phosphate receptor in cultured Chinese hamster ovary cells. Proc Natl Acad Sci U S A 1981;78:6967-6971.
7. Altarescu G, Hill S, Wiggs E, et al. The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease. J Pediatr 2001;138:539-547.
8. Matzner U, Herbst E, Hedayati KK, et al. Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Hum Mol Genet 2005;14:1139-1152.
9. Krivit W. Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. Springer Semin Immunopathol 2004;26:119-132.
10. Escolar ML, Poe MD, Provenzale JM, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med 2005;352:2069-2081.
11. Parano E, Uncini A, De Vivo DC, Lovelace RE. Electrophysiologic correlates of peripheral nervous system maturation in infancy and childhood. J Child Neurol 1993;8:336-338.
12. Rabben OK. Sensory nerve conduction studies in children. Age-related changes of conduction velocities. Neuropediatrics 1995;26:26-32.
13. Bayever E, Ladisch S, Philippart M, et al. Bone-marrow transplantation for metachromatic leucodystrophy. Lancet 1985;2:471-473.
14. Guffon N, Souillet G, Maire I, et al. Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation. J Inherit Metab Dis 1995;18:159-161.
15. Krivit W, Lockman LA, Watkins PA, et al. The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome. J Inherit Metab Dis 1995;18:398-412.
16. Krivit W, Lipton ME, Lockman LA, et al. Prevention of deterioration in metachromatic leukodystrophy by bone marrow transplantation. Am J Med Sci 1987;294:80-85.
17. Solders G, Celsing G, Hagenfeldt L, et al. Improved peripheral nerve conduction, EEG and verbal IQ after bone marrow transplantation for adult metachromatic leukodystrophy. Bone Marrow Transplant 1998;22:1119-1122.
18. Kidd D, Nelson J, Jones F, et al. Long-term stabilization after bone marrow transplantation in juvenile metachromatic leukodystrophy. Arch Neurol 1998;55:98-99.
19. Navarro C, Fernandez JM, Dominguez C, et al. Late juvenile metachromatic leukodystrophy treated with bone marrow transplantation; a 4-year follow-up study. Neurology 1996;46:254-256.
20. Malm G, Ringden O, Winiarski J, et al. Clinical outcome in four children with metachromatic leukodystrophy treated by bone marrow transplantation. Bone Marrow Transplant 1996;17:1003-1008.
21. Martin PL, Carter SL, Kernan NA, et al. Results of the cord blood transplantation study (COBLT): outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage diseases. Biol Blood Marrow Transplant 2006;12:184-194.
22. Peters C, Steward CG. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 2003;31:229-239.
23. Polten A, Fluharty AL, Fluharty CB, et al. Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med 1991;324:18-22.