X-linked adrenoleukodystrophy (X-ALD): Clinical presentation and guidelines for diagnosis, follow-up and management

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Engelen, Marc ^a   Kemp, Stephan ^a   De Visser, Marianne ^a   Van Geel, Björn M ^a,b   Wanders, Ronald J A ^a   Aubourg, Patrick ^c,d   Poll The, Bwee Tien ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b Location Alkmaar   (Netherlands)

^c BICÊTRE HOSPITAL   (France)

^d INSERM   (France)

Author keywords

ABCD1; Addisons disease; Demyelinating disorder; Leukodystrophy; Myelin; Myelopathy; Peroxisome; Very long chain fatty acids; VLCFA; X ALD; X linked adrenoleukodystrophy

Indexed keywords

ABCD1 PROTEIN; ACYL COENZYME A OXIDASE; ANTIOXIDANT; CATALASE; CORTICOTROPIN; GADOLINIUM; LORENZO OIL; LOW DENSITY LIPOPROTEIN; LYSOPHOSPHATIDYLCHOLINE; MEMBRANE PROTEIN; MEVINOLIN; PLASMALOGEN; SMALL INTERFERING RNA; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

ADDISON DISEASE; ADRENOLEUKODYSTROPHY; ASTROCYTE; ATAXIA; BEHAVIOR DISORDER; BLOOD BRAIN BARRIER; BLOOD LEVEL; BRAIN RADIOGRAPHY; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED CLINICAL TRIAL (TOPIC); DEMYELINATING DISEASE; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; DIFFUSION TENSOR IMAGING; DISEASE COURSE; DISEASE SEVERITY; DRUG EFFICACY; ENDOCRINE DISEASE; EVOLUTION; FATTY ACID OXIDATION; FECES INCONTINENCE; FOLLOW UP; GENE EXPRESSION; GENETIC COUNSELING; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HOMEOSTASIS; HUMAN; IMMUNOFLUORESCENCE; LEG PAIN; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NEURITIS; NEUROPATHOLOGY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATHOPHYSIOLOGY; PHENOTYPE; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PROGNOSIS; REVIEW; SPINAL CORD; SPINAL CORD DISEASE; TISSUE LEVEL; WHITE MATTER; X CHROMOSOME DOMINANT DISORDER; X LINKED ADRENOLEUKODYSTROPHY;

EID: 84864816455     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-51     Document Type: Review

References (89)

1. Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes. Singh I, Moser AE, Moser HW, Kishimoto Y, Pediatr Res 1984 18 286 290 10.1203/00006450- 198403000-00016 6728562 (Pubitemid 14166135)
2. Method for measurement of peroxisomal very-long-chain fatty acid {beta}-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid. Kemp S, Valianpour F, Mooyer PA, Kulik W, Wanders RJ, Clin Chem 2004 50 1824 1826 10.1373/clinchem.2004.038539 15388659 (Pubitemid 39298015)
3. Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. Moser HW, Moser AB, Frayer KK, Chen W, Schulman JD, O'Neill BP, et al. Neurology 1981 31 1241 1249 10.1212/WNL.31.10.1241 7202134 (Pubitemid 11026840)
4. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, et al. Nature 1993 361 726 730 10.1038/361726a0 8441467 (Pubitemid 23070480)
5. The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. van Roermund CWT, Visser WF, IJlst L, van Cruchten A, Boek M, Kulik W, et al. FASEB J 2008 22 4201 4208 10.1096/fj.08-110866 18757502
6. The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. Ofman R, Dijkstra IM, van Roermund CW, Burger N, Turkenburg M, van Cruchten A, et al. EMBO Mol Med 2010 2 90 97 10.1002/emmm.201000061 20166112
7. Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes. Bezman L, Moser HW, Am J Med Genet 1998 76 415 419 10.1002/(SICI)1096-8628(19980413)76:5<415::AID-AJMG9>3.0.CO;2-L 9556301
8. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, et al. Hum Mutat 2001 18 499 515 10.1002/humu.1227 11748843 (Pubitemid 33131552)
9. Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, et al. Mol Genet Metab 2009 97 212 220 10.1016/j.ymgme.2009.03.010 19423374
10. ber diffuse Hirnsclerose. Heubner O, Charité Ann 1897 22 298 310 22747448
11. ber einen interessanten fall von gliomatöser Infiltration bei der Grohirnhemisphäre. Ceni C, Arch Psychiatr Nervenkr 1899 31 809 819 10.1007/BF02047161
12. Zur diffusen Hirn-Ruckenmarksklerose im Kindesalter. Haberfeld W, Spieler F, Dt Z Nervheilk 1910 40 436 463
13. Zur Kenntnis der sogenannten diffusen Sklerose (über Encephalitis periaxialis diffusa). Schilder PF, Z Gesamte Neurol Psychiatr 1912 10 1 60 10.1007/BF02901445
14. Zur Frage der Encephalitis periaxialis diffusa (sogenannten diffusen Sklerose). Schilder PF, Z Gesamte Neurol Psychiatr 1913 15 359 376 10.1007/BF02895263
15. Die encephalitis periaxialis diffusa (nebst Bemerkungen über die Apraxie des Lidschlusses). Schilder PF, Arch Psychiatr Nervenkr 1924 71 327 356 10.1007/BF01813381
16. Diffuse cerebral sclerosis with endocrine abnormalities in young males. Hoefnagel D, Van den Noort S, Ingbar SH, Brain 1962 85 553 568 10.1093/brain/85.3.553 13963828
17. Bronzekrankheit und sklerosierende Enzephalomyelitis. Siemerling E, Creutzfeldt HG, Arch Psychiatr Nervenkr 1923 68 217 244 10.1007/BF01835678
18. Melanodermic type leukodystrophy (adreno-leukodystrophy). Blaw ME, Handbook of Clinical Neurology. Volume 10 American Elsevier, New York, Vinken PJ, Bruyn CW, 1970 128 133
19. Adrenocortical atrophy and diffuse cerebral sclerosis. Forsyth CC, Forbes M, Cumings JN, Arch Dis Child 1971 46 273 284 10.1136/adc.46.247.273 4326280
20. Schilder's disease. Sex-linked recessive transmission with specific adrenal changes. Schaumburg HH, Richardson EP, Johnson PC, Cohen RB, Powers JM, Raine CS, Arch Neurol 1972 27 458 460 10.1001/archneur.1972.00490170090014 5078900
21. Fatty acid abnormality in adrenoleukodystrophy. Igarashi M, Schaumburg HH, Powers J, Kishmoto Y, Kolodny E, Suzuki K, J Neurochem 1976 26 851 860 10.1111/j.1471-4159.1976.tb04462.x 965973
22. von Neusser E, Wiesel J, Die Erkrankungen der Nebennieren Wien-Leipzig, HöIder 2 2011 133
23. Familial Addison's disease with spastic paraplegia. Harris-Jones JN, Nixon PG, J Clin Endocrinol Metab 1955 15 739 744 10.1210/jcem-15-6-739 14367490
24. Addison's disease in association with spastic paraplegia. Penman RW, Br Med J 1960 1 402 10.1136/bmj.1.5170.402 14431597
25. Spastic paraplegia associated with Addison's disease: adult variant of adreno-leukodystrophy. Budka H, Sluga E, Heiss WD, J Neurol 1976 213 237 250 10.1007/BF00312873 61263
26. Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects. Griffin JW, Goren E, Schaumburg H, Engel WK, Loriaux L, Neurology 1977 27 1107 1113 10.1212/WNL.27.12.1107 200861 (Pubitemid 8260722)
27. X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients. Laureti S, Casucci G, Santeusanio F, Angeletti G, Aubourg P, Brunetti P, J Clin Endocrinol Metab 1996 81 470 474 10.1210/jc.81.2.470 8636252 (Pubitemid 26057571)
28. Presentation of primary adrenal insufficiency in childhood. Hsieh S, White PC, J Clin Endocrinol Metab 2011 96 925 E928 10.1210/jc.2011-0015 21470994
29. Absence of circulating adrenal autoantibodies in adult-onset X-linked adrenoleukodystrophy. Laureti S, Falorni A, Volpato M, Casucci G, Picchio ML, Angeletti G, et al. Horm Metab Res 1996 28 319 322 10.1055/s-2007-979803 8858375 (Pubitemid 26253507)
30. X-linked adrenoleukodystrophy. Moser HW, Smith KD, Watkins PA, Powers J, Moser AB, The Metabolic and Molecular Bases of Inherited Disease McGraw Hill, New York, Scriver CR, Beaudet AL, Sly WS, Valle D, 8 2001 3257 3301
31. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. van Geel BM, Assies J, Wanders RJ, Barth PG, J Neurol Neurosurg Psychiatry 1997 63 4 14 10.1136/jnnp.63.1.4 9221959 (Pubitemid 27317353)
32. The inflammatory myelinopathy of adreno-leukodystrophy: cells, effector molecules, and pathogenetic implications. Powers JM, Liu Y, Moser AB, Moser HW, J Neuropathol Exp Neurol 1992 51 630 643 10.1097/00005072-199211000-00007 1362438
33. X-linked adrenoleukodystrophy. van der Knaap MS, Valk J, Magnetic Resonance of Myelination and Myelin Disorders Springer, Berlin-Heidelberg-New York, Heilmann U, 3 2005 176 190
34. Asymmetric cerebral lesion pattern in X-linked adrenoleukodystrophy. Wang S, Wu JM, Cheng YS, J Chin Med Assoc 2006 69 383 386 10.1016/S1726-4901(09) 70277-1 16970275 (Pubitemid 44355653)
35. Adrenoleukodystrophy: a scoring method for brain MR observations. Loes DJ, Hite S, Moser H, Stillman AE, Shapiro E, Lockman L, et al. AJNR Am J Neuroradiol 1994 15 1761 1766 7847225 (Pubitemid 24311430)
36. Late-onset adrenoleukodystrophy associated with long-standing psychiatric symptoms. Garside S, Rosebush PI, Levinson AJ, Mazurek MF, J Clin Psychiatry 1999 60 460 468 10.4088/JCP.v60n0708 10453801 (Pubitemid 29369802)
37. X-linked adrenoleukodystrophy. Moser HW, Mahmood A, Raymond GV, Nat Clin Pract Neurol 2007 3 140 151 17342190 (Pubitemid 46403941)
38. Peripheral nerve abnormalities in adrenomyeloneuropathy: a clinical and electrodiagnostic study. van Geel BM, Koelman JH, Barth PG, Ongerboer de Visser BW, Neurology 1996 46 112 118 10.1212/WNL.46.1.112 8559356 (Pubitemid 26156113)
39. X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy. Engelen M, van der Kooi AJ, Kemp S, Wanders RJ, Sistermans EA, Waterham HR, et al. J Peripher Nerv Syst 2011 16 353 355 10.1111/j.1529-8027.2011.00367.x 22176151
40. Polyneuropathies in teenagers: a clinicopathological study of 45 cases. Kararizou E, Karandreas N, Davaki P, Davou R, Vassilopoulos D, Neuromuscul Disord 2006 16 304 307 10.1016/j.nmd.2006.03.001 16616844
41. Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy. Powers JM, DeCiero DP, Ito M, Moser AB, Moser HW, J Neuropathol Exp Neurol 2000 59 89 102 10749098 (Pubitemid 30106465)
42. Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathy. Dubey P, Fatemi A, Huang H, Nagae-Poetscher L, Wakana S, Barker PB, et al. Ann Neurol 2005 58 758 766 10.1002/ana.20643 16240348 (Pubitemid 41552551)
43. Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy. Fatemi A, Smith SA, Dubey P, Zackowski KM, Bastian AJ, van Zijl PC, et al. Neurology 2005 64 1739 1745 10.1212/01.WNL.0000164458.02141. 06 15911801 (Pubitemid 40695808)
44. Quantitative magnetization transfer characteristics of the human cervical spinal cord in vivo: application to adrenomyeloneuropathy. Smith SA, Golay X, Fatemi A, Mahmood A, Raymond GV, Moser HW, et al. Magn Reson Med 2009 61 22 27 10.1002/mrm.21827 19097204
45. Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy. van Geel BM, Bezman L, Loes DJ, Moser HW, Raymond GV, Ann Neurol 2001 49 186 194 10.1002/1531-8249(20010201)49:2<186::AID-ANA38>3.0. CO;2-R 11220738 (Pubitemid 32157994)
46. Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Moser HW, Moser AB, Naidu S, Bergin A, Dev Neurosci 1991 13 254 261 10.1159/000112170 1817030
47. Signs of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy: a retrospective study. Assies J, Gooren LJ, Van GB, Barth PG, Int J Androl 1997 20 315 321 10.1046/j.1365-2605.1997.00066.x 16130276 (Pubitemid 28025224)
48. Adrenoleukodystrophy: clinical and biochemical manifestations in carriers. O'Neill BP, Moser HW, Saxena KM, Marmion LC, Neurology 1984 34 798 801 10.1212/WNL.34.6.798 6539445 (Pubitemid 14107082)
49. Assessment of adrenal function in women heterozygous for adrenoleukodystrophy. el-Deiry SS, Naidu S, Blevins LS, Ladenson PW, J Clin Endocrinol Metab 1997 82 856 860 10.1210/jc.82.3.856 9062496 (Pubitemid 27106601)
50. X-chromosome inactivation in symptomatic heterozygotes of X-linked adrenoleukodystrophy. Naidu S, Washington C, Thirumalai S, Smith KD, Moser HW, Watkins PA, Ann Neurol 1997 42 498a
51. Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation. Maier EM, Kammerer S, Muntau AC, Wichers M, Braun A, Roscher AA, Ann Neurol 2002 52 683 688 10.1002/ana.10376 12402273 (Pubitemid 35246879)
52. Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms. Salsano E, Tabano S, Sirchia SM, Colapietro P, Castellotti B, Gellera C, et al. Orphanet J Rare Dis 2012 7 10 10.1186/1750-1172-7-10 22280810
53. X-linked adrenoleukodystrophy (ALD): A novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Berger J, Molzer B, Fae I, Bernheimer H, Biochem Biophys Res Commun 1994 205 1638 1643 10.1006/bbrc.1994.2855 7811247
54. Identification of A 2 base-pair deletion in 5 unrelated families with adrenoleukodystrophy-a possible hot-spot for mutations. Kemp S, Ligtenberg MJL, van Geel BM, Barth PG, Wolterman RA, Schoute F, et al. Biochem Biophys Res Commun 1994 202 647 653 10.1006/bbrc.1994.1979 8048932 (Pubitemid 24259263)
55. Predictions of a 2-locus model for disease heterogeneity: application to adrenoleukodystrophy. Maestri NE, Beaty TH, Am J Med Genet 1992 44 576 582 10.1002/ajmg.1320440509 1481812
56. A genetic basis for the multiple phenotypes of X-linked adrenoleukodystrophy. Smith KD, Sack G, Beaty TH, Bergin A, Naidu S, Moser A, et al. Am J Hum Genet 1991 49 165
57. Head trauma can initiate the onset of adreno-leukodystrophy. Raymond GV, Seidman R, Monteith TS, Kolodny E, Sathe S, Mahmood A, et al. J Neurol Sci 2010 290 70 74 10.1016/j.jns.2009.11.005 19945717
58. Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance. Kemp S, Theodoulou FL, Wanders RJ, Br J Pharmacol 2011 164 1753 1766 10.1111/j.1476-5381.2011.01435.x 21488864
59. Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy. Kemp S, Valianpour F, Denis S, Ofman R, Sanders RJ, Mooyer P, et al. Mol Genet Metab 2005 84 144 151 10.1016/j.ymgme.2004.09.015 15670720 (Pubitemid 40164574)
60. Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy. Ho JK, Moser H, Kishimoto Y, Hamilton JA, J Clin Invest 1995 96 1455 1463 10.1172/JCI118182 7657817
61. Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy. Knazek RA, Rizzo WB, Schulman JD, Dave JR, J Clin Invest 1983 72 245 248 10.1172/JCI110963 6874949 (Pubitemid 13025865)
62. Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro. Whitcomb RW, Linehan WM, Knazek RA, J Clin Invest 1988 81 185 188 10.1172/JCI113292 2891726 (Pubitemid 18092251)
63. Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture. Hein S, Schonfeld P, Kahlert S, Reiser G, Hum Mol Genet 2008 17 1750 1761 10.1093/hmg/ddn066 18344355 (Pubitemid 351791501)
64. Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy. Fourcade S, Lopez-Erauskin J, Galino J, Duval C, Naudi A, Jove M, et al. Hum Mol Genet 2008 17 1762 1773 10.1093/hmg/ddn085 18344354 (Pubitemid 351791502)
65. Adreno-leukodystrophy: oxidative stress of mice and men. Powers JM, Pei Z, Heinzer AK, Deering R, Moser AB, Moser HW, et al. J Neuropathol Exp Neurol 2005 64 1067 1079 10.1097/01.jnen.0000190064.28559.a4 16319717
66. Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy? Eichler FS, Ren JQ, Cossoy M, Rietsch AM, Nagpal S, Moser AB, et al. Ann Neurol 2008 63 729 742 10.1002/ana.21391 18571777 (Pubitemid 351945532)
67. Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. Pujol A, Hindelang C, Callizot N, Bartsch U, Schachner M, Mandel JL, Hum Mol Genet 2002 11 499 505 10.1093/hmg/11.5.499 11875044 (Pubitemid 34257486)
68. Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy. Schluter A, Espinosa L, Fourcade S, Galino J, Lopez E, Ilieva E, et al. Hum Mol Genet 2012 21 1062 1077 10.1093/hmg/ddr536 22095690
69. X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer CJ, et al. Mol Genet Metab 2011 104 160 166 10.1016/j.ymgme.2011.05.016 21700483
70. Etiological diagnosis of primary adrenal insufficiency using an original flowchart of immune and biochemical markers. Laureti S, Aubourg P, Calcinaro F, Rocchiccioli F, Casucci G, Angeletti G, et al. J Clin Endocrinol Metab 1998 83 3163 3168 10.1210/jc.83.9.3163 9745420 (Pubitemid 28500951)
71. Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis. Mukherjee S, Newby E, Harvey JN, J R Soc Med 2006 99 245 249 10.1258/jrsm.99.5.245 16672758 (Pubitemid 43845053)
72. Myelopathy but normal MRI: where next? Wong SH, Boggild M, Enevoldson TP, Fletcher NA, Pract Neurol 2008 8 90 102 10.1136/jnnp.2008.144121 18344379 (Pubitemid 351454670)
73. Increased very long chain fatty acids in patients on a ketogenic diet: a cause of diagnostic confusion. Theda C, Woody RC, Naidu S, Moser AB, Moser HW, J Pediatr 1993 122 724 726 10.1016/S0022-3476(06)80013-2 8496750 (Pubitemid 23134958)
74. Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. Sevin C, Ferdinandusse S, Waterham HR, Wanders RJ, Aubourg P, Orphanet J Rare Dis 2011 6 8 10.1186/1750-1172-6-8 21392394
75. Mutations in PEX10 are a cause of autosomal recessive ataxia. Regal L, Ebberink MS, Goemans N, Wanders RJ, De ML, Jaeken J, et al. Ann Neurol 2010 68 259 263 20695019
76. Peroxisomes, lipid metabolism and lipotoxicity. Wanders RJ, Ferdinandusse S, Brites P, Kemp S, Biochim Biophys Acta 2010 1801 272 280 10.1016/j.bbalip.2010.01.001 20064629
77. Biochemistry of mammalian peroxisomes revisited. Wanders RJ, Waterham HR, Annu Rev Biochem 2006 75 295 332 10.1146/annurev.biochem.74.082803.133329 16756494 (Pubitemid 44118035)
78. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Schiffmann R, van der Knaap MS, Neurology 2009 72 750 759 10.1212/01.wnl.0000343049.00540.c8 19237705
79. Late onset white matter disease in peroxisome biogenesis disorder. Barth PG, Gootjes J, Bode H, Vreken P, Majoie CB, Wanders RJ, Neurology 2001 57 1949 1955 10.1212/WNL.57.11.1949 11769739 (Pubitemid 33126857)
80. Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes. Rahil H, Solassol J, Philippe C, Lefort G, Jonveaux P, Eur J Hum Genet 2002 10 462 466 10.1038/sj.ejhg.5200833 12111640
81. Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. Shapiro E, Krivit W, Lockman L, Jambaque I, Peters C, Cowan M, et al. Lancet 2000 356 713 718 10.1016/S0140-6736(00) 02629-5 11085690 (Pubitemid 30663240)
82. Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report. Miller WP, Rothman SM, Nascene D, Kivisto T, DeFor TE, Ziegler RS, et al. Blood 2011 118 1971 1978 10.1182/blood-2011-01-329235 21586746
83. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Veres G, Schmidt M, Kutschera I, et al. Science 2009 326 818 823 10.1126/science.1171242 19892975
84. A two-year trial of oleic and erucic acids ("Lorenzo's oil") as treatment for adrenomyeloneuropathy. Aubourg P, Adamsbaum C, Lavallard-Rousseau MC, Rocchiccioli F, Cartier N, Jambaque I, et al. N Engl J Med 1993 329 745 752 10.1056/NEJM199309093291101 8350883 (Pubitemid 23262528)
85. Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil". van Geel BM, Assies J, Haverkort EB, Koelman JH, Verbeeten B, Wanders RJ, et al. J Neurol Neurosurg Psychiatry 1999 67 290 299 10.1136/jnnp.67.3.290 10449548 (Pubitemid 29392587)
86. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. Moser HW, Raymond GV, Lu SE, Muenz LR, Moser AB, Xu J, et al. Arch Neurol 2005 62 1073 1080 10.1001/archneur.62.7.1073 16009761 (Pubitemid 41043727)
87. Lovastatin for X-linked adrenoleukodystrophy. Singh I, Khan M, Key L, Pai S, N Engl J Med 1998 339 702 703 10.1056/NEJM199809033391012 9729143 (Pubitemid 28402099)
88. Lovastatin in X-linked adrenoleukodystrophy. Engelen M, Ofman R, Dijkgraaf MGW, Hijzen M, van der Wardt LA, van Geel BM, et al. N Engl J Med 2010 362 276 277 10.1056/NEJMc0907735 20089986
89. Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy. Lopez-Erauskin J, Fourcade S, Galino J, Ruiz M, Schluter A, Naudi A, et al. Ann Neurol 2011 70 84 92 10.1002/ana.22363 21786300