Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature

Bone Marrow Transplantation

Volumn 46, Issue 8, 2011, Pages 1071-1076

  De Hosson, L D ^a   Van De Warrenburg, B P C ^a   Preijers, F W M B ^a   Blijlevens, N M A ^a   Van Der Reijden, B A ^a   Kremer, H P H ^a,b   Lefeber, D J ^a   Allebes, W A ^a   Al Ali, H ^c   Niederwieser, D W ^c   Schaap, N P M ^a   Schattenberg, A V M B ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

allo SCT; metachromatic leukodystrophy; MLD; review; SCT

Indexed keywords

CEREBROSIDE SULFATASE; MEPREDNISONE;

ACUTE GRAFT VERSUS HOST DISEASE; ADULT; ALLOGENEIC STEM CELL TRANSPLANTATION; ATAXIA; BRAIN ATROPHY; CHIMERA; CLINICAL ARTICLE; CONFUSION; DAILY LIFE ACTIVITY; DETERIORATION; DISEASE ASSOCIATION; DISEASE COURSE; DRUG MEGADOSE; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; FECES INCONTINENCE; FEMALE; GAIT DISORDER; GRAFT REJECTION; GRAFT VERSUS HOST REACTION; HUMAN; MALE; MEMORY DISORDER; MENTAL DETERIORATION; METACHROMATIC LEUKODYSTROPHY; MICROANGIOPATHY; ONSET AGE; PATIENT SELECTION; PRIORITY JOURNAL; REVIEW; SEIZURE; T CELL DEPLETION; THERAPY EFFECT; THROMBOTIC THROMBOCYTOPENIC PURPURA; TREATMENT OUTCOME; URINE INCONTINENCE;

ADOLESCENT; ADULT; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MALE; YOUNG ADULT;

EID: 80051674995     PISSN: 02683369     EISSN: 14765365     Source Type: Journal    
DOI: 10.1038/bmt.2010.252     Document Type: Review

References (38)

1. Figura von K, Gieselmann, Jaeken J. Metachromatic leuko-dystrophy. In: Schriver C, Beaudet A, Sly W, Valle D, (eds). The Metabolic and Molecular bases of inherited disease 8 ed McGraw-Hill: New York, 2001, pp 3695-3724.
2. Hyde TM, Ziegler JC, Weinberger DR. Psychiatric disturbances in metachromatic leukodystrophy. Insights into the neurobiology of psychosis. Arch Neurol 1992; 49: 401-406.
3. Hageman AT, Gabreels FJ, de Jong JG, Gabreels-Festen AA, van den Berg CJ, van Oost BA et al. Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency. Arch Neurol 1995; 52: 408-413.
4. Prasad VK, Kurtzberg J. Transplant outcomes in mucopoly-saccharidoses. Semin Hematol 2010; 47: 59-69.
5. Sevin C, Aubourg P, Cartier N. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. J Inherit Metab Dis 2007; 30: 175-183. (Pubitemid 46487998)
6. Glucksberg H, Storb R, Fefer A, Buckner CD, Neiman PE, Clift RA et al. Clinical manifestations of graft-versus-host disease in human recipients of marrow from HL-A-matched sibling donors. Transplantation 1974; 18: 295-304.
7. Shulman HM, Sullivan KM, Weiden PL, McDonald GB, Striker GE, Sale GE et al. Chronic graft-versus-host syndrome in man. A long-term clinicopathologic study of 20 Seattle patients. Am J Med 1980; 69: 204-217. (Pubitemid 10036817)
8. Maas F, Schaap N, Kolen S, Zoetbrood A, Buno I, Dolstra H et al. Quantification of donor and recipient hemopoietic cells by real-time PCR of single nucleotide polymorphisms. Leukemia 2003; 17: 621-629. (Pubitemid 36395658)
9. Fernandes J, Saudubray J, van den Gerghe G. Inborn metabolic diseases: diagnosis and treatment. 2nd ed Springer-Verlag: Berlin New York, 1995.
10. Hamilton R, Hamilton S. Lipid analysis. IRL press at Oxford University Press: Oxford, New York, 1992.
11. Innis MA, Gelfand DH, Sninsky JJ, White TJ. PCR Protocols. A Guide to Methods and Applications. Academic Press: San Diego, 1990.
12. D'Olhaberriague L, Litvan I, Mitsias P, Mansbach HH. A reappraisal of reliability and validity studies in stroke. Stroke 1996; 27: 2331-2336. (Pubitemid 26427215)
13. Kasner SE. Clinical interpretation and use of stroke scales. Lancet Neurol 2006; 5: 603-612. (Pubitemid 43867434)
14. Mahoney F, Barthel D. Functional evaluation: The barthel index. Md State Med J 1965; 14: 61-65.
15. Wechsler D. WAIS-R manual. Psychological Corporation 1981.
16. Ryan JJ, Schnakenberg-Ott SD. Scoring reliability on the Wechsler Adult Intelligence Scale-Third Edition (WAIS-III). Assessment 2003; 10: 151-159. (Pubitemid 44534437)
17. Kamphuis G. A study on the reliability of the Bourdon Wiersma test. Ned Tijdschr Psychol 1962; 17: 269-275.
18. Luteijn F. A new abbreviated groninger intelligence test. Ned Tijdschr Psychol 1966; 21: 675-682.
19. Wechsler D. Wechsler memory scale-revised. Psychological Corporation 1987.
20. Grewel F. The Bourdon-Wiersma test. Folia Psychiatr Neurol Neurochir Neerl 1953; 56: 694-703.
21. Demaerel P, Faubert C, Wilms G, Casaer P, Piepgras U, Baert AL. MR findings in leukodystrophy. Neuroradiology 1991; 33: 368-371.
22. Franssen H, van den Bergh PY. Nerve conduction studies in polyneuropathy: practical physiology and patterns of abnormality. Acta Neurol Belg 2006; 106: 73-81. (Pubitemid 44044037)
23. Kowalski JW, Rasheva M, Zakrzewska B. Visual and brainstem auditory evoked potentials in hereditary motor-sensory neuropathy. Electromyogr Clin Neurophysiol 1991; 31: 167-172.
24. Biffi A, Lucchini G, Rovelli A, Sessa M. Metachromatic leukodystrophy: an overview of current and prospective treatments. Bone Marrow Transplant 2008; 42(Suppl 2): S2-S6.
25. Krivit W, Lockman LA, Watkins PA, Hirsch J, Shapiro EG. The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, glo-boid cell leukodystrophy and Hurler syndrome. J Inherit Metab Dis 1995; 18: 398-412.
26. Solders G, Celsing G, Hagenfeldt L, Ljungman P, Isberg B, Ringden O. Improved peripheral nerve conduction, EEG and verbal IQ after bone marrow transplantation for adult metachromatic leukodystrophy. Bone Marrow Transplant 1998; 22: 1119-1122. (Pubitemid 28554224)
27. Shapiro EG, Lockman LA, Balthazor M, Krivit W. Neurop-sychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis 1995; 18: 413-429.
28. Koc ON, Day J, Nieder M, Gerson SL, Lazarus HM, Krivit W. Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). Bone Marrow Transplant 2002; 30: 215-222. (Pubitemid 35023593)
29. Meuleman N, Vanhaelen G, Tondreau T, Lewalle P, Kwan J, Bennani J et al. Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report. Haematologica 2008; 93: e11-e13.
30. Tylki-Szymanska A, Lugowska A, Chmielik J, Kotowicz J, Jakubowska-Winecka A, Zobel M et al. Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy. Am J Med Genet 2002; 110: 315-319. (Pubitemid 34701044)
31. Molzer B, Sundt-Heller R, Kainz-Korschinsky M, Zobel M. Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: dependence on reduction of arylsulfatase A activity. Am J Med Genet 1992; 44: 523-526.
32. Church H, Tylee K, Cooper A, Thornley M, Mercer J, Wraith E et al. Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease. Bone Marrow Transplant 2007; 39: 207-210.
33. Mattsson J, Ringden O, Storb R. Graft failure after allogeneic hematopoietic cell transplantation. Biol Blood Marrow Transplant 2008; 14(1 Suppl 1): 165-170. (Pubitemid 350286854)
34. Boelens JJ, Wynn RF, O'Meara A, Veys P, Bertrand Y, Souillet G et al. Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure. Bone Marrow Transplant 2007; 40: 225-233. (Pubitemid 47108465)
35. Malm G, Ringden O, Winiarski J, Grondahl E, Uyebrant P, Eriksson U et al. Clinical outcome in four children with metachromatic leukodystrophy treated by bone marrow transplantation. Bone Marrow Transplant 1996; 17: 1003-1008. (Pubitemid 26235846)
36. Escolar ML, Poe MD, Martin HR, Kurtzberg J. A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. Pediatrics 2006; 118: e879-e889. (Pubitemid 46090017)
37. 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. (Pubitemid 36336225)
38. Colle MA, Piguet F, Bertrand L, Raoul S, Bieche I, Dubreil L et al. Efficient intracerebral delivery of AAV5 vector encoding human ARSA in non-human primate. Hum Mol Genet 2010; 19: 147-158.