Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort

Bone Marrow Transplantation

Volumn 48, Issue 3, 2013, Pages 369-375

  Krageloh Mann I ^a   Groeschel, S ^a   Kehrer, C ^a   Opherk, K ^a   Nagele T ^a   Handgretinger, R ^a   Muller I ^a,b  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

lysosomal; metabolic disease; metachromatic leukodystrophy; MRI volumetry; SCT

Indexed keywords

CHOLINE; N ACETYLASPARTIC ACID;

ADOLESCENT; ARTICLE; ATAXIA; BLINDNESS; BRAIN ATROPHY; BRAIN RADIOGRAPHY; BRAIN SIZE; CANCER REGRESSION; CASE REPORT; CHILD; CLINICAL EFFECTIVENESS; CLINICAL EVALUATION; COMPARATIVE STUDY; DEMYELINATING NEUROPATHY; DISEASE SEVERITY; FEMALE; FOLLOW UP; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; INTELLIGENCE QUOTIENT; METACHROMATIC LEUKODYSTROPHY; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PERIPHERAL NEUROPATHY; POLYNEUROPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPASTICITY; THERAPY EFFECT; WALKING DIFFICULTY; WORKING MEMORY;

ADOLESCENT; COHORT STUDIES; DISEASE PROGRESSION; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MALE; TREATMENT OUTCOME;

EID: 84875224233     PISSN: 02683369     EISSN: 14765365     Source Type: Journal    
DOI: 10.1038/bmt.2012.155     Document Type: Article

References (29)

1. Heim P, Claussen M, Hoffmann B, Conzelmann E, Gaertner J, Harzer K et al. Leukodystrophy incidence in Germany. Am J Med Genet 1997; 71: 475-478.
2. Poorthuis BJ, Wevers RA, Kleijer WJ, Groeber JE, de Jong JG, van Weely S et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999; 105: 151-156.
3. von Figura K, Gieselmann V, Jacken J. Metachromatic leukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill: New York, 2001, pp 3695-3724.
4. Moser H, Lees M. Sulfatide lipidosis: metachromatic leukodystrophy. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The Metabolic Basis of Inherited Disease. McGraw-Hill: New York, 1965, pp 539-559.
5. Kehrer C, Blumenstock G, Gieselmann V, Krageloh-Mann I. The natural course of gross motor deterioration in Metachromatic Leukodystrophy. Dev Med Child Neurol 2011; 53: 850-855.
6. Kehrer C, Kustermann-Kuhn B, Raabe C, Krageloh-Mann I. Natural history of metachromatic leukodystrophy (MLD)-clinical course. Eur J Pediatr 2008; 167: 374.
7. Kumperscak HG, Plesnicar BK, Zalar B, Gradisnik P, Seruga T, Paschke E. Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phe-notype with early neurological signs. Psychiatr Genet 2007; 17: 85-91.
8. Groeschel S, Kehrer C, Engel C, Dali C, Bley A, Steinfeld R et al. Metachromatic Leukodystrophy: natural course of cerebral MRI changes in relation to clinical course. J Inherit Metab Dis 2011; 34: 1095-1102.
9. Kruse B, Hanefeld F, Christen HJ, Bruhn H, Michaelis T, Hanicke W et al. Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo. J Neurol 1993; 241: 68-74.
10. Sener RN. Metachromatic leukodystrophy. Diffusion MR imaging and proton MR spectroscopy. Acta Radiol 2003; 44: 440-443.
11. Dali C, Hanson LG, Barton NW, Fogh J, Nair N, Lund AM. Brain N-Acetylaspartate levels correlate with motor function in metachromatic leukodystrophy. Neurology 2010; 75: 1896-1903.
12. Krivit W. Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. Springer Semin Immunopathol 2004; 26:119-132.
13. Krivit W, Peters C, Shapiro EG. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglu-cosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr Opin Neurol 1999; 12: 167-176.
14. 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.
15. 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.
16. Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V. Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med 1991; 324: 18-22.
17. Kehrer C, Blumenstock G, Raabe C, Krageloh-Mann I. Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy. Dev Med Child Neurol 2011; 53: 156-160.
18. Tewes U, Rossmann P, Schallberger U. HAWIK-III. Hamburg-Wechsler- Intelligenztest fur Kinder. 3rd edn. Verlag Hans Huber: Bern, 1999.
19. Melchers P, Preufi U. K-ABC: Kaufman assessment battery for children. Deutsch-sprachige Fassung. Durchfuhrungs-und Auswertungshandbuch. 2nd edn. Swets & Zeitlinger: Amsterdam, 1994.
20. Eichler F, Grodd W, Grant E, Sessa M, Bizzi A, Bley A et al. Metachromatic leukodystrophy: a scoring system for brain MR observations. AJNR 2009; 30:1893-1897.
21. Clas P, Groeschel S, Wilke M. A semi-Automatic algorithm for determining the demyelination load in metachromatic leukodystrophy. Acad Radiol 2012; 19: 26-34.
22. Kidd D, Nelson J, Jones F, Dusoir H, Wallace I, McKinstry S et al. Long-term stabilization after bone marrow transplantation in juvenile metachromatic leukodystrophy. Arch Neurol 1998; 55: 98-99.
23. Clarke JT, Skomorowski MA, Chang PL. Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy. Am J Med Genet 1989; 33: 10-13.
24. Arbour LT, Silver K, Hechtman P, Treacy EP, Coulter-Mackie MB. Variable onset of metachromatic leukodystrophy in a Vietnamese family. Pediatr Neurol 2000; 23: 173-176.
25. Cable C, Finkel RS, Lehky TJ, Biassou NM, Wiggs EA, Bunin N et al. Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a 5-year follow-up in three affected siblings. Mol Genet Metab 2011; 102: 207-209.
26. Pierson TM, Bonnemann CG, Finkel RS, Bunin N, Tennekoon GI. Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Ann Neurol 2008; 64: 583-587.
27. Ding XQ, Bley A, Kohlschutter A, Fiehler J, Lanfermann H. Long-term neuroima-ging follow-up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: Evidence of myelin recovery and ongoing brain maturation. Am J Med Genet 2011; 158A: 257-260.
28. Görg 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 2007; 22: 1139-1142.
29. Kapaun P, Dittmann RW, Granitzny B, Eickhoff W, Wulbrand H, Neumaier-Probst E et al. Slow progression of juvenile metachromatic leukodystrophy 6 years after bone marrow transplantation. J. Child Neurol 1999; 14: 222-228.