X-linked adrenoleukodystrophy: Therapeutic approaches to distinct phenotypes

Pediatric Transplantation

Volumn 9, Issue SUPPL. 7, 2005, Pages 55-62

  Mahmood, Asif ^a   Dubey, Prachi ^a   Moser, Hugo W ^a   Moser, Ann ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Adrenal gland; Adrenoleukodystrophy; Bone marrow transplant; Peroxisomes; Very long chain fatty acids

Indexed keywords

ADRENOLEUKODYSTROPHY; BIOGENESIS; CLINICAL FEATURE; CONFERENCE PAPER; DIET THERAPY; DISEASE COURSE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; ONSET AGE; PATHOGENESIS; PHENOTYPE;

ADOLESCENT; ADRENOLEUKODYSTROPHY; ADULT; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; NEONATAL SCREENING; PHENOTYPE;

EID: 28344455215     PISSN: 13973142     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-3046.2005.00447.x     Document Type: Conference Paper

References (42)

1. MOSSER J, LUTZ Y, STOECKEL ME, et al. The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. Hum Mol Genet 1994: 3: 265-271.
2. BEZMAN L, MOSER AB, RAYMOND GV, et al. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 2001: 49: 512-517.
3. DEAN M, HAMON Y, CHIMINI G. The human ATP-binding cassette (ABC) transporter superfamily. J Lipid Res 2001: 42: 1007-1017.
4. MIGEON BR, MOSER HW, MOSER AB, AXELMAN J, SILLENCE D, NORUM RA. Adrenoleukodystrophy: Evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci USA 1981: 78: 5066-5070.
5. BERGER J, MOLZER B, FAE I, BERNHEIMER H. X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Biochem Biophys Res Commun 1994: 205: 1638-1643.
6. BROCCARDO C, TROFFER-CHARLIER N, SAVARY S, MANDEL JL, CHIMINI G. Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP). Eur J Hum Genet 1998: 6: 638-641.
7. KEMP S, WEI HM, LU JF, et al. Gene redundancy and pharmacological gene therapy: implications for X- linked adrenoleukodystrophy. Nat Med 1998: 4: 1261-1268.
8. IGARASHI M, SCHAUMBURG HH, POWERS J, KISHMOTO Y, KOLODNY E, SUZUKI K. Fatty acid abnormality in adrenoleukodystrophy. J Neurochem 1976: 26: 851-860.
9. MOSER AB, KREITER N, BEZMAN L, et al. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol 1999: 45: 100-110.
10. Ho JK, MOSER H, KISHIMOTO Y, HAMILTON JA. Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy. J Clin Invest 1995: 96: 1455-1463.
11. WHITCOMB RW, LINEHAN WM, KNAZEK RA. Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro. J Clin Invest 1988: 81: 185-188.
12. PAINTLIA AS, GILG AG, KHAN M, SINGH AK, BARBOSA E. SINGH I. Correlation of very long chain fatty acids accumulation and inflammatory disease progression in childhood ALD: Implications for potential therapies. Neurobiol Dis 2003: 14: 425-439.
13. POWERS JM, SCHAUMBURG HH, JOHNSON AB, RAINE CS. A correlative study of the adrenal cortex in adreno-leukodystrophy - evidence for a fatal intoxication with very long chain saturated fatty acids. Invest Cell Pathol 1980: 3: 353-376.
14. KELLEY RI, DATTA NS, DOBYNS WB, et al. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet 1986: 23: 869-901.
15. GOULD SJ, RAYMOND GV, VALLE D. The Peroxisome Biogenesis Disorders. In: SCRIVER CR, BEAUDET AL, SLY WS, VALLE D, eds. The Metabolic and Molecular Bases of Inherited Diseases. New York: McGraw Hill, pp. 3181-3217.
16. MOSER HW, SMITH KD, WATKINS PA, POWERS J, MOSER AB. X-linked adrenoleukodystrophy. In: SCRIVER CR, BEAUDET AL, SLY WS, VALLE D. eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw Hill, 2001: pp. 3257-3301.
17. MOSER HW, MOSER AB, NAIDU S, BERGIN A. Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci 1991: 13: 254-261.
18. BOEHM CD, CUTTING GR, LACHTERMACHER MB, MOSER HW, CHONG SS. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. Mol Genet Metab 1999: 66: 128-136.
19. Cox C, DUBEY P, RAYMOND GV, MAHMOOD A, MOSER AB, MOSER HW. Cognitive function of neurologically asymptomatic boys with X-linked adrenoleukodystrophy. Arch Neurol 2005: in press.
20. MOSER AB, MOSER HW. The prenatal diagnosis of X-linked adrenoleukodystrophy. Prenat Diagn 1999: 19: 46-48.
21. MOSER HW, LOES DJ, MELHEM ER, et al. X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients. Neuropediatrics 2000: 31: 227-239.
22. MOSER HW, RAYMOND GV, Lu SE, et al. Follow-up of 89 Lorenzo's Oil treated asymptomatic adrenoleukodystrophy patients. Arch Neurol 2005: 62: 1073-1080.
23. EICHLER FS, BARKER PB, Cox C, et al. Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy. Neurology 2002: 58: 901-907.
24. WILKEN B, DECHENT P, BROCKMANN K, et al. Quantitative proton magnetic resonance spectroscopy of children with adrenoleukodystrophy before and after hematopoietic stem cell transplantation. Neuropediatrics 2003: 34: 237-246.
25. OZ G, TKAC I, CHARNAS LR, et al. Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients. Neurology 2005: 64: 434-441.
26. LOES DJ, HITE S, MOSER H, et al. Adrenoleukodystrophy: a scoring method for brain MR observations. AJNR Am J Neuroradiol 1994: 15: 1761-1766.
27. MELHEM ER, LOES DJ, GEORGIADES CS, RAYMOND GV, MOSER HW. X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression. AJNR Am J Neuroradiol 2000: 21: 839-844.
28. ODONE A, ODONE M. Lorenzo's oil: a new treatment for adrenoleukodystrophy. J Pediatr Neurosci 1989: 5: 55-61.
29. RIZZO WB, LESHNER RT, ODONE A, et al. Dietary erucic acid therapy for X-linked adrenoleukodystrophy. Neurology 1989: 39: 1415-1422.
30. AUBOURG P, ADAMSBAUM C, LAVALEARD-ROUSSEAU MC, et al. A two-year trial of oleic and erucic acids ("Lorenzo's oil") as treatment for adrenomyeloneutropathy. N Engl J Med 1993: 329: 745-752.
31. VAN GEEL BM, ASSIES J, HAVERKORT EB, et al. Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil". J Neurol Neurosurg Psychiatry 1999: 67: 290-299.
32. MOSER HW, RAYMOND GV, KOEHLER W, et al. Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's Oil") therapy in X-linked adrenoleukodystrophy: Results of two concurrent trials. Adv Exp Med Biol 2003: 544: 369-387.
33. DLIBEY P, RAYMOND G, MOSER AB, KHARKAR S, BEZMAN L, MOSER HW. Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long chain fatty acid screening. J Pediatr 2005: 146: 528-532.
34. STEPHENSON DJ, BEZMAN L, RAYMOND GV. Acute presentation of childhood adrenoleukodystrophy. Neuropediatrics 2000: 31: 293-297.
35. PETERS C, CHARNAS LR, TAN Y, et al. Cerebral X-linked adrenoleukodystrophy: The international hematopoietic cell transplantation experience from 1982 to 1999. Blood 2004: 104: 881-888.
36. RIZZO WB, LESHNER RT, ODONE A, et al. X-linked adrenoleukodystrophy: Biochemical and clinical efficacy of dietary erucic acid therapy. In: UZIEL G, WANDERS RJA, CAPPA ME, eds. Adrenoleukodystrophy and Other Peroxisomal Disorders. Amsterdam: Excerpta Medica, 1990: pp. 149-162.
37. UZIEL G, BERTINI E, BARDELLI P, RIMOLDI M, GAMBETTI M. Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci 1991: 13: 274-279.
38. SHAPIRO E, KRIVIT W, LOCKMAN L, et al. Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. Lancet 2000: 356: 713-718.
39. 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.
40. ALLISON J, MARTIN PL, SZABOLES P, et al. Transplantation of boys with X-linked adrenoleukodystrophy with unrelated-donor, partially HLA-mismatched banked umbilical cord blood. Biol Blood Bone Marrow Transpl 2004: 10: 74.
41. KOEHLER W, SOKOLOWSKI P. Clinical phenotypes, diagnosis and treatment of adulthood X-linked adrenoleukodystrophy. In: BERGER J, STOECKLER S, KOEHLER W, eds. Understanding and Treating Adrenoleukodystrophy: Present State and Future Perspectives. Verlag Heilbronn: pp. 28-51.
42. POUWELS PJ, KRUSE B, KORENKE GC, MAO X, HANEFELD FA, FRAHM J. Quantitative proton magnetic resonance spectroscopy of childhood adrenoleukodystrophy. Neuropediatrics 1998: 29: 254-264.