adrenoleukodystrophy

Summary

Summary: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).

Top Publications

  1. Dumser M, Bauer J, Lassmann H, Berger J, Forss Petter S. Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency. Acta Neuropathol. 2007;114:573-86 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is an inherited neurometabolic disease associated with the accumulation of very long-chain fatty acids...
  2. Hubbard W, Moser A, Tortorelli S, Liu A, Jones D, Moser H. Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. Mol Genet Metab. 2006;89:185-7 pubmed
    ..hexacosanoic acid (26:0) in dried blood spots on a filter paper matrix from 25 male patients with X-linked adrenoleukodystrophy and nine patients with peroxisome biogenesis disorders compared to 19 controls...
  3. Wang Z, Yan A, Lin Y, Xie H, Zhou C, Lan F. Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree. PLoS ONE. 2013;8:e57977 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder caused by mutations in the ABCD1 gene. Approximately 20% of X-ALD female carriers may develop neurological symptoms...
  4. Soardi F, Esquiaveto Aun A, Guerra Junior G, Lemos Marini S, Mello M. Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation. Arq Bras Endocrinol Metabol. 2010;54:738-43 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is an inherited disease with clinical heterogeneity varying from presymptomatic individuals to rapidly progressive cerebral ALD forms...
  5. Jang J, Kang H, Kim H, Kim J, Huh Y, Kim D, et al. Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients. Ann Neurol. 2011;70:402-9 pubmed publisher
    ..of an appropriate animal model system and the inaccessibility of human oligodendrocytes in vivo, X-linked adrenoleukodystrophy (X-ALD)-induced pluripotent stem cells (iPSCs) would provide a unique cellular model for studying ..
  6. Braiterman L, Zheng S, Watkins P, Geraghty M, Johnson G, McGuinness M, et al. Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins. Hum Mol Genet. 1998;7:239-47 pubmed
    X-Linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder characterized by reduced peroxisomal very long chain fatty acid (VLCFA) beta-oxidation...
  7. Gueugnon F, Volodina N, Taouil J, Lopez T, Gondcaille C, Grand A, et al. A novel cell model to study the function of the adrenoleukodystrophy-related protein. Biochem Biophys Res Commun. 2006;341:150-7 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder due to mutations in the ABCD1 (ALD) gene...
  8. Moser H, Moser A, Hollandsworth K, Brereton N, Raymond G. "Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy. J Mol Neurosci. 2007;33:105-13 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder that damages the nervous system and is associated with the accumulation of saturated very long chain fatty acids (SVLCFA)...
  9. Contreras M, Sengupta T, Sheikh F, Aubourg P, Singh I. Topology of ATP-binding domain of adrenoleukodystrophy gene product in peroxisomes. Arch Biochem Biophys. 1996;334:369-79 pubmed
    b>Adrenoleukodystrophy (X-ALD) is a demyelinating disorder characterized by the accumulation of saturated very-long-chain fatty acids (> C22:0) due to the impaired activity of lignoceroyl-CoA ligase...
  10. Schluter A, Espinosa L, Fourcade S, Galino J, Lopez E, Ilieva E, et al. Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy. Hum Mol Genet. 2012;21:1062-77 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder characterized by axonopathy and demyelination in the central nervous system and adrenal insufficiency...

Detail Information

Publications99

  1. Dumser M, Bauer J, Lassmann H, Berger J, Forss Petter S. Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency. Acta Neuropathol. 2007;114:573-86 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is an inherited neurometabolic disease associated with the accumulation of very long-chain fatty acids...
  2. Hubbard W, Moser A, Tortorelli S, Liu A, Jones D, Moser H. Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. Mol Genet Metab. 2006;89:185-7 pubmed
    ..hexacosanoic acid (26:0) in dried blood spots on a filter paper matrix from 25 male patients with X-linked adrenoleukodystrophy and nine patients with peroxisome biogenesis disorders compared to 19 controls...
  3. Wang Z, Yan A, Lin Y, Xie H, Zhou C, Lan F. Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree. PLoS ONE. 2013;8:e57977 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder caused by mutations in the ABCD1 gene. Approximately 20% of X-ALD female carriers may develop neurological symptoms...
  4. Soardi F, Esquiaveto Aun A, Guerra Junior G, Lemos Marini S, Mello M. Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation. Arq Bras Endocrinol Metabol. 2010;54:738-43 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is an inherited disease with clinical heterogeneity varying from presymptomatic individuals to rapidly progressive cerebral ALD forms...
  5. Jang J, Kang H, Kim H, Kim J, Huh Y, Kim D, et al. Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients. Ann Neurol. 2011;70:402-9 pubmed publisher
    ..of an appropriate animal model system and the inaccessibility of human oligodendrocytes in vivo, X-linked adrenoleukodystrophy (X-ALD)-induced pluripotent stem cells (iPSCs) would provide a unique cellular model for studying ..
  6. Braiterman L, Zheng S, Watkins P, Geraghty M, Johnson G, McGuinness M, et al. Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins. Hum Mol Genet. 1998;7:239-47 pubmed
    X-Linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder characterized by reduced peroxisomal very long chain fatty acid (VLCFA) beta-oxidation...
  7. Gueugnon F, Volodina N, Taouil J, Lopez T, Gondcaille C, Grand A, et al. A novel cell model to study the function of the adrenoleukodystrophy-related protein. Biochem Biophys Res Commun. 2006;341:150-7 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder due to mutations in the ABCD1 (ALD) gene...
  8. Moser H, Moser A, Hollandsworth K, Brereton N, Raymond G. "Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy. J Mol Neurosci. 2007;33:105-13 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder that damages the nervous system and is associated with the accumulation of saturated very long chain fatty acids (SVLCFA)...
  9. Contreras M, Sengupta T, Sheikh F, Aubourg P, Singh I. Topology of ATP-binding domain of adrenoleukodystrophy gene product in peroxisomes. Arch Biochem Biophys. 1996;334:369-79 pubmed
    b>Adrenoleukodystrophy (X-ALD) is a demyelinating disorder characterized by the accumulation of saturated very-long-chain fatty acids (> C22:0) due to the impaired activity of lignoceroyl-CoA ligase...
  10. Schluter A, Espinosa L, Fourcade S, Galino J, Lopez E, Ilieva E, et al. Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy. Hum Mol Genet. 2012;21:1062-77 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder characterized by axonopathy and demyelination in the central nervous system and adrenal insufficiency...
  11. Ligtenberg M, Kemp S, Sarde C, van Geel B, Kleijer W, Barth P, et al. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am J Hum Genet. 1995;56:44-50 pubmed
    X-linked adrenoleukodystrophy (ALD) has been associated with mutations in a gene encoding an ATP-binding transporter, which is located in the peroxisomal membrane. Deficiency of the gene leads to impaired peroxisomal beta-oxidation...
  12. Kumar N, Shukla P, Taneja K, Kalra V, Bansal S. De novo ABCD1 gene mutation in an Indian patient with adrenoleukodystrophy. Pediatr Neurol. 2008;39:289-92 pubmed publisher
    ..We report on the first known patient with childhood cerebral adrenoleukodystrophy and a de novo 3' splice-site mutation in this gene...
  13. Berger J, Pujol A, Aubourg P, Forss Petter S. Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy. Brain Pathol. 2010;20:845-56 pubmed publisher
    Mutations in the ABCD1 gene cause the clinical spectrum of the neurometabolic disorder X-linked adrenoleukodystrophy/adrenomyeloneuropathy (X-ALD/AMN)...
  14. Singh J, Khan M, Singh I. HDAC inhibitor SAHA normalizes the levels of VLCFAs in human skin fibroblasts from X-ALD patients and downregulates the expression of proinflammatory cytokines in Abcd1/2-silenced mouse astrocytes. J Lipid Res. 2011;52:2056-69 pubmed publisher
    X-adrenoleukodystrophy (X-ALD) is a peroxisomal metabolic disorder caused by mutations in the ABCD1 gene encoding the peroxisomal ABC transporter adrenoleukodystrophy protein (ALDP)...
  15. Deon M, Wajner M, Sirtori L, Fitarelli D, Coelho D, Sitta A, et al. The effect of Lorenzo's oil on oxidative stress in X-linked adrenoleukodystrophy. J Neurol Sci. 2006;247:157-64 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder biochemically characterized by the accumulation of very long chain fatty acids (VLCFA), particularly hexacosanoic acid (C(26:0)) and tetracosanoic acid (C(24:0)), in tissues ..
  16. Watkins P, Gould S, Smith M, Braiterman L, Wei H, Kok F, et al. Altered expression of ALDP in X-linked adrenoleukodystrophy. Am J Hum Genet. 1995;57:292-301 pubmed
    X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disorder with variable phenotypic expression that is characterized by elevated plasma and tissue levels of very long-chain fatty acids...
  17. Maier E, Kammerer S, Muntau A, Wichers M, Braun A, Roscher A. Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation. Ann Neurol. 2002;52:683-8 pubmed
    Skewing of X inactivation may contribute to the manifestation of symptoms in adrenoleukodystrophy carriers...
  18. Albet S, Bentejac M, Savary S, Gondcaille C, Netik A, Berger J, et al. Rat adrenoleukodystrophy-related (ALDR) gene: full-length cDNA sequence and new insight in expression. Biochim Biophys Acta. 2001;1517:257-69 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is an inherited demyelinating disorder due to mutations in the ALD gene, which encodes a peroxisomal ABC half-transporter (ALDP)...
  19. Moser H, Raymond G, Lu S, Muenz L, Moser A, Xu J, et al. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. Arch Neurol. 2005;62:1073-80 pubmed
    To identify asymptomatic boys with X-linked adrenoleukodystrophy who have a normal magnetic resonance image (MRI), and to assess the effect of 4:1 glyceryl trioleate-glyceryl trierucate (Lorenzo's oil) on disease progression...
  20. Kemp S, Wanders R. Biochemical aspects of X-linked adrenoleukodystrophy. Brain Pathol. 2010;20:831-7 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is characterized by the accumulation of very long-chain fatty acids (VLCFA; >C22) in plasma and tissues...
  21. Cartier N, Hacein Bey Abina S, Bartholomae C, Veres G, Schmidt M, Kutschera I, et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science. 2009;326:818-23 pubmed publisher
    X-linked adrenoleukodystrophy (ALD) is a severe brain demyelinating disease in boys that is caused by a deficiency in ALD protein, an adenosine triphosphate-binding cassette transporter encoded by the ABCD1 gene...
  22. Cheng F, Lee V, To K, Chan K, Shing M, Li C. Post-transplant EBV-related lymphoproliferative disorder complicating umbilical cord blood transplantation in patients of adrenoleukodystrophy. Pediatr Blood Cancer. 2009;53:1329-31 pubmed publisher
  23. Pujol A, Troffer Charlier N, Metzger E, Chimini G, Mandel J. Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolin. Genomics. 2000;70:131-9 pubmed
    The adrenoleukodystrophy-related gene (ALDR, ABCD2) is a candidate modifier gene and a potential therapeutic target for X-linked adrenoleukodystrophy (ALD), a severe neurodegenerative disease...
  24. Takahashi N, Morita M, Maeda T, Harayama Y, Shimozawa N, Suzuki Y, et al. Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations. J Neurochem. 2007;101:1632-43 pubmed
    Mutation in the X-chromosomal adrenoleukodystrophy gene (ALD; ABCD1) leads to X-linked adrenoleukodystrophy (X-ALD), a severe neurodegenerative disorder...
  25. Fatemi A, Smith S, Dubey P, Zackowski K, Bastian A, van Zijl P, et al. Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy. Neurology. 2005;64:1739-45 pubmed
    ..signal quantified in the dorsal column showed significant differences between patients with AMN, X-linked adrenoleukodystrophy heterozygotes, and controls...
  26. Cartier N, Aubourg P. Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy. Brain Pathol. 2010;20:857-62 pubmed publisher
    ..transplantation (HSCT) is the only therapeutic approach that can arrest cerebral demyelination of X-linked adrenoleukodystrophy (ALD) in boys and results in long-term in a good quality of life, provided the procedure is performed at an ..
  27. Engelen M, Ofman R, Mooijer P, Poll The B, Wanders R, Kemp S. Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy. Biochim Biophys Acta. 2008;1781:105-11 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder and is characterized by a striking and unpredictable variation in phenotypic expression...
  28. Rockenbach F, Deon M, Marchese D, Manfredini V, Mescka C, Ribas G, et al. The effect of bone marrow transplantation on oxidative stress in X-linked adrenoleukodystrophy. Mol Genet Metab. 2012;106:231-6 pubmed publisher
    ..stress plays an important role in the pathophysiology of neurodegenerative diseases, including X-linked adrenoleukodystrophy (X-ALD)...
  29. Jung H, Wimplinger I, Jung S, Landau K, Gal A, Heppner F. Phenotypes of female adrenoleukodystrophy. Neurology. 2007;68:960-1 pubmed
  30. Dubey P, Fatemi A, Barker P, Degaonkar M, Troeger M, Zackowski K, et al. Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy. Neurology. 2005;64:304-10 pubmed
    Adrenomyeloneuropathy (AMN) is the adult variant of X-linked adrenoleukodystrophy. The disease pathology is usually limited to spinal cord and peripheral nerves, and when this is the case, it is referred to as "pure" AMN...
  31. Fourcade S, Savary S, Albet S, Gauthé D, Gondcaille C, Pineau T, et al. Fibrate induction of the adrenoleukodystrophy-related gene (ABCD2): promoter analysis and role of the peroxisome proliferator-activated receptor PPARalpha. Eur J Biochem. 2001;268:3490-500 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease due to a defect in the ABCD1 (ALD) gene...
  32. Coll M, Palau N, Camps C, Ruiz M, Pampols T, Giros M. X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. Clin Genet. 2005;67:418-24 pubmed
    In this study, we analyzed the ABCD1 gene in 80 X-linked adrenoleukodystrophy (X-ALD) patients from 62 unrelated families...
  33. Gautron A, Giquel B, Beaudoin L, Autrusseau E, Speak A, Platt F, et al. Invariant NKT cells in adrenoleukodystrophy patients and mice. J Neuroimmunol. 2010;229:204-11 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is a severe neurological disease characterized by progressive demyelination within the CNS, adrenal insufficiency, and is associated with an accumulation of saturated very long chain fatty acids in ..
  34. Haynes C, De Jesus V. Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening. Clin Chim Acta. 2012;413:1217-21 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is the most common human peroxisomal disorder, and is caused by mutations in the peroxisomal transmembrane ALD protein (ALDP, ABCD1)...
  35. Wiesinger C, Kunze M, Regelsberger G, Forss Petter S, Berger J. Impaired very long-chain acyl-CoA ?-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction. J Biol Chem. 2013;288:19269-79 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD), an inherited peroxisomal disorder, is caused by mutations in the ABCD1 gene encoding the peroxisomal ATP-binding cassette (ABC) transporter ABCD1 (adrenoleukodystrophy protein, ALDP)...
  36. Singh I, Pujol A. Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis. Brain Pathol. 2010;20:838-44 pubmed publisher
    X-adrenoleukodystrophy (X-ALD) is a complex disease where inactivation of ABCD1 gene results in clinically diverse phenotypes, the fatal disorder of cerebral ALD (cALD) or a milder disorder of adrenomyeloneuropathy (AMN)...
  37. Jia Z, Pei Z, Li Y, Wei L, Smith K, Watkins P. X-linked adrenoleukodystrophy: role of very long-chain acyl-CoA synthetases. Mol Genet Metab. 2004;83:117-27 pubmed
    The principal biochemical abnormality in the neurodegenerative disorder X-linked adrenoleukodystrophy (X-ALD) is elevated plasma and tissue levels of very long-chain fatty acids (VLCFA)...
  38. Paik M, Kim K, Yoon H, Kim H. Diagnostic patterns of very-long-chain fatty acids in plasma of patients with X-linked adrenoleukodystrophy. J Chromatogr B Biomed Sci Appl. 2001;760:149-57 pubmed
    ..the very-long-chain fatty acids (VLCFAs) in plasma is described for the visual discrimination of X-linked adrenoleukodystrophy (X-ALD) patients from normal healthy group...
  39. Singh J, Khan M, Singh I. Silencing of Abcd1 and Abcd2 genes sensitizes astrocytes for inflammation: implication for X-adrenoleukodystrophy. J Lipid Res. 2009;50:135-47 pubmed publisher
    X-linked adrenoleukodystrophy is a metabolic disorder arising from a mutation/deletion in the ABCD1 gene, leading to a defect in the peroxisomal adrenoleukodystrophy protein (ALDP), which inhibits the oxidation of very long chain fatty ..
  40. Sanders R, Ofman R, Duran M, Kemp S, Wanders R. Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy. J Biol Chem. 2006;281:13180-7 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disorder biochemically characterized by elevated levels of very long-chain fatty acids (VLCFA)...
  41. Fourcade S, Ruiz M, Guilera C, Hahnen E, Brichta L, Naudi A, et al. Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. Hum Mol Genet. 2010;19:2005-14 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is a fatal, axonal demyelinating, neurometabolic disease...
  42. Khan M, Singh J, Singh I. Plasmalogen deficiency in cerebral adrenoleukodystrophy and its modulation by lovastatin. J Neurochem. 2008;106:1766-79 pubmed publisher
    In cerebral adrenoleukodystrophy (cALD), an accumulation of very long chain fatty acids stems from a defect of the peroxisomal ALD protein (ALDP) and results in the loss of myelin/oligodendrocytes, induction of inflammatory disease and ..
  43. Moser H, Raymond G, Koehler W, Sokolowski P, Hanefeld F, Korenke G, 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;544:369-87 pubmed
  44. Wang S, Wu J, Cheng Y. Asymmetric cerebral lesion pattern in X-linked adrenoleukodystrophy. J Chin Med Assoc. 2006;69:383-6 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is an inherited disease caused by peroxisomal dysfunction. X-ALD usually involves the cerebral white matter in an approximately symmetric way...
  45. Kemp S, Pujol A, Waterham H, van Geel B, Boehm C, Raymond G, et al. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat. 2001;18:499-515 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, which encodes a peroxisomal ABC half-transporter (ALDP) involved in the import of very long-chain fatty acids (VLCFA) into the peroxisome...
  46. Baarine M, Andreoletti P, Athias A, Nury T, Zarrouk A, Ragot K, et al. Evidence of oxidative stress in very long chain fatty acid--treated oligodendrocytes and potentialization of ROS production using RNA interference-directed knockdown of ABCD1 and ACOX1 peroxisomal proteins. Neuroscience. 2012;213:1-18 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) and pseudo neonatal adrenoleukodystrophy (P-NALD) are neurodegenerative demyelinating diseases resulting from the functional loss of the peroxisomal ATP-binding cassette transporter D (ABCD1) and from ..
  47. Engelen M, Kemp S, de Visser M, Van Geel B, Wanders R, Aubourg P, et al. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis. 2012;7:51 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder...
  48. Loes D, Fatemi A, Melhem E, Gupte N, Bezman L, Moser H, et al. Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology. 2003;61:369-74 pubmed
    X-linked adrenoleukodystrophy (X-ALD) has variants with widely different outcomes, hampering clinical counseling and evaluation of therapies.
  49. Shukla P, Gupta N, Kabra M, Ghosh M, Sharma R, Gupta A, et al. Three novel variants in X-linked adrenoleukodystrophy. J Child Neurol. 2009;24:857-60 pubmed publisher
    X-linked adrenoleukodystrophy is an inherited neurological disorder caused by mutations in the ABCD1 gene (located on chromosome Xq28) encoding adrenoleukodystrophy protein which is involved in the transport of substrates from the ..
  50. Picard F, Guidoux S, Martin T, Aubourg P, Pasquali J. T-cell receptor Vbeta gene usage in CSF lymphocytes in X-linked adrenoleukodystrophy. J Mol Recognit. 2005;18:254-61 pubmed
    X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder with impaired very-long-chain fatty acid (VLCFA) metabolism that produces a neurological disease with significant variability of clinical phenotypes even within kindred...
  51. Fourcade S, Savary S, Gondcaille C, Berger J, Netik A, Cadepond F, et al. Thyroid hormone induction of the adrenoleukodystrophy-related gene (ABCD2). Mol Pharmacol. 2003;63:1296-303 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is a demyelinating disorder associated with impaired very-long-chain fatty-acid (VLCFA) beta-oxidation caused by mutations in the ABCD1 (ALD) gene that encodes a peroxisomal membrane ABC transporter...
  52. Hudspeth M, Raymond G. Immunopathogenesis of adrenoleukodystrophy: current understanding. J Neuroimmunol. 2007;182:5-12 pubmed
    b>Adrenoleukodystrophy is a neurometabolic disease with a decreased ability to degrade very long chain fatty acids (VLCFA) and significant phenotypic variation...
  53. Kemp K, Mallam E, Scolding N, Wilkins A. Stem cells in genetic myelin disorders. Regen Med. 2010;5:425-39 pubmed publisher
    ..genetic myelin disorders and currently available therapies, including bone marrow transplantation for adrenoleukodystrophy. Specific stem cell subtypes and their relevance to potential therapeutic use will be discussed and stem ..
  54. Pujol A, Hindelang C, Callizot N, Bartsch U, Schachner M, Mandel J. Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. Hum Mol Genet. 2002;11:499-505 pubmed
    Adrenomyeloneuropathy (AMN) and cerebral childhood adrenoleukodystrophy (CCALD) are the main phenotypic variants of an X-linked inherited metabolic disorder causing demyelination, X-linked adrenoleukodystrophy (X-ALD)...
  55. Sener R. Atypical X-linked adrenoleukodystrophy: new MRI observations with FLAIR, magnetization transfer contrast, diffusion MRI, and proton spectroscopy. Magn Reson Imaging. 2002;20:215-9 pubmed
    An 11-year-old boy with an atypical form of X-linked adrenoleukodystrophy is reported predominantly involving the frontal lobes, and later spreading to temporal lobes...
  56. Cappa M, Bizzarri C, Giannone G, Aiello C, Di Biase A. Is subclinical adrenal failure in adrenoleukodystrophy/adrenomyeloneuropathy reversible?. J Endocrinol Invest. 2011;34:753-6 pubmed publisher
    X-linked adrenoleukodystrophy/adrenomieloneuropathy (ALD/AMN) is a progressive neurodegenerative disorder due to mutations in the ABCD1 gene encoding the ABC transporter ALDP...
  57. Ferrer I, Aubourg P, Pujol A. General aspects and neuropathology of X-linked adrenoleukodystrophy. Brain Pathol. 2010;20:817-30 pubmed publisher
    X-adrenoleukodystrophy (X-ALD) is a metabolic, peroxisomal disease affecting the nervous system, adrenal cortex and testis resulting from inactivating mutations in ABCD1 gene which encodes a peroxisomal membrane half-adenosine ..
  58. Singh J, Khan M, Singh I. Caffeic acid phenethyl ester induces adrenoleukodystrophy (Abcd2) gene in human X-ALD fibroblasts and inhibits the proinflammatory response in Abcd1/2 silenced mouse primary astrocytes. Biochim Biophys Acta. 2013;1831:747-58 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene...
  59. Kim J, Kim H. Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up. Radiographics. 2005;25:619-31 pubmed
    X-linked adrenoleukodystrophy (ALD) is a rare metabolic disorder caused by peroxisomal enzyme failure. Several phenotypes can be distinguished on the basis of clinical onset and manifestations...
  60. Heinzer A, Watkins P, Lu J, Kemp S, Moser A, Li Y, et al. A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy. Hum Mol Genet. 2003;12:1145-54 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative and endocrine disorder resulting from mutations in ABCD1 which encodes a peroxisomal membrane protein in the ATP binding cassette superfamily...
  61. Benhamida S, Pflumio F, Dubart Kupperschmitt A, Zhao Emonet J, Cavazzana Calvo M, Rocchiccioli F, et al. Transduced CD34+ cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice. Mol Ther. 2003;7:317-24 pubmed
    X-linked adrenoleukodystrophy (ALD), an inherited demyelinating disorder of the central nervous system, can be corrected by allogeneic bone marrow transplantation, likely due to the turnover of brain macrophages that are bone marrow ..
  62. Lund T, Stadem P, Panoskaltsis Mortari A, Raymond G, Miller W, Tolar J, et al. Elevated cerebral spinal fluid cytokine levels in boys with cerebral adrenoleukodystrophy correlates with MRI severity. PLoS ONE. 2012;7:e32218 pubmed publisher
    X-linked adrenoleukodystrophy (ALD) is a metabolic, peroxisomal disease that results from a mutation in the ABCD1 gene. The most severe course of ALD progression is the cerebral inflammatory and demyelinating form of the disease, cALD...
  63. Schmidt S, Haase C, Bezman L, Moser H, Schmidt M, Kohler W, et al. Serum autoantibody responses to myelin oligodendrocyte glycoprotein and myelin basic protein in X-linked adrenoleukodystrophy and multiple sclerosis. J Neuroimmunol. 2001;119:88-94 pubmed
    We analyzed the sera of 51 patients with various phenotypes of X-linked adrenoleukodystrophy (X-ALD), 20 patients with multiple sclerosis (MS) and 22 healthy volunteers for the presence of autoantibodies specific for the recombinant ..
  64. Launay N, Ruiz M, Fourcade S, Schluter A, Guilera C, Ferrer I, et al. Oxidative stress regulates the ubiquitin-proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy. Brain. 2013;136:891-904 pubmed publisher
    Oxidative damage is a pivotal aetiopathogenic factor in X-linked adrenoleukodystrophy. This is a neurometabolic disease characterized by the accumulation of very-long-chain fatty acids owing to the loss of function of the peroxisomal ..
  65. Galea E, Launay N, Portero Otin M, Ruiz M, Pamplona R, Aubourg P, et al. Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: a paradigm for multifactorial neurodegenerative diseases?. Biochim Biophys Acta. 2012;1822:1475-88 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder expressed as four disease variants characterized by adrenal insufficiency and graded damage in the nervous system...
  66. Dvorakova L, Storkanova G, Unterrainer G, Hujová J, Kmoch S, Zeman J, et al. Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange. Hum Mutat. 2001;18:52-60 pubmed
    ..59 C/T in the 5'untranslated region and c.2019 C/T (F673F) in exon 10. The frequencies of these two polymorphisms, were 11/150 and 2/150 control alleles, respectively...
  67. Powers J, Pei Z, Heinzer A, Deering R, Moser A, Moser H, et al. Adreno-leukodystrophy: oxidative stress of mice and men. J Neuropathol Exp Neurol. 2005;64:1067-79 pubmed
    ..These differences between the adreno-leukodystrophy mouse and human patients are intriguing and may provide a clue to the phenotypic divergence in this disease...
  68. Heinzer A, McGuinness M, Lu J, Stine O, Wei H, Van der Vlies M, et al. Mouse models and genetic modifiers in X-linked adrenoleukodystrophy. Adv Exp Med Biol. 2003;544:75-93 pubmed
  69. Hein S, Schonfeld P, Kahlert S, Reiser G. Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture. Hum Mol Genet. 2008;17:1750-61 pubmed publisher
    Saturated very long chain fatty acids (VLCFAs; > or =C22:0) accumulate in X-linked adrenoleukodystrophy (X-ALD, OMIM 300100), a severe hereditary neurodegenerative disease, due to peroxisomal impairment...
  70. Moser H. Therapy of X-linked adrenoleukodystrophy. NeuroRx. 2006;3:246-53 pubmed
    Current therapies for X-linked adrenoleukodystrophy (X-ALD) include replacement therapy with adrenal steroids, which is mandatory for all patients with impaired adrenal function but does not alter neurological progression significantly; ..
  71. Dubey P, Fatemi A, Huang H, Nagae Poetscher L, Wakana S, Barker P, et al. Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathy. Ann Neurol. 2005;58:758-66 pubmed
    quot;Pure" adrenomyeloneuropathy (AMN) is the noninflammatory myeloneuropathic variant of X-linked adrenoleukodystrophy, where the disease process appears to be restricted to spinal cord tracts and peripheral nerves...
  72. Park C, Kim H, Jang J, Lee H, Lee J, Yoo J, et al. ABCD2 is a direct target of ?-catenin and TCF-4: implications for X-linked adrenoleukodystrophy therapy. PLoS ONE. 2013;8:e56242 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene that encodes the peroxisomal ATP-binding cassette (ABC) transporter subfamily D member 1 protein (ABCD1), which is referred to as the ..
  73. Di Biase A, Di Benedetto R, Fiorentini C, Travaglione S, Salvati S, Attorri L, et al. Free radical release in C6 glial cells enriched in hexacosanoic acid: implication for X-linked adrenoleukodystrophy pathogenesis. Neurochem Int. 2004;44:215-21 pubmed
    ..To evaluate their involvement in the cerebral form of X-linked adrenoleukodystrophy (cerALD) disorder, characterised by very long chain fatty acid (VLCFA) accumulation, we utilised an in ..
  74. Jardim L, da Silva A, Blank D, Villanueva M, Renck L, Costa M, et al. X-linked adrenoleukodystrophy: clinical course and minimal incidence in South Brazil. Brain Dev. 2010;32:180-90 pubmed publisher
    ..X-linked adenoleukodystrophy is a genetic disease that affects the degradation of very long-chain fatty acids. In male patients, common pictures are the cerebral form (CALD), myeloneuropathy (AMN), and Addison-only...
  75. Pan H, Xiong H, Wu Y, Zhang Y, Bao X, Jiang Y, et al. ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy. Pediatr Neurol. 2005;33:114-20 pubmed
    X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the adrenoleukodystrophy (ALD) protein gene ABCD1...
  76. Paintlia A, Gilg A, Khan M, Singh A, Barbosa E, Singh I. Correlation of very long chain fatty acid accumulation and inflammatory disease progression in childhood X-ALD: implications for potential therapies. Neurobiol Dis. 2003;14:425-39 pubmed
    ..was designed to understand the role of inflammatory mediators involved in the neurobiology of childhood adrenoleukodystrophy (cALD) by comparing the differential expression of the inflammatory mediators with metabolite very long ..
  77. Guimaraes C, Lemos M, Sa Miranda C, Azevedo J. Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene. Mol Genet Metab. 2002;76:62-7 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder. The gene associated with X-ALD, ABCD1, encodes a peroxisomal ATP-binding cassette half-transporter...
  78. Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer C, et al. X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. Mol Genet Metab. 2011;104:160-6 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is a progressive peroxisomal disorder affecting adrenal glands, testes and myelin stability that is caused by mutations in the ABCD1 (NM_000033) gene...
  79. Fourcade S, López Erauskin J, Galino J, Duval C, Naudi A, Jove M, et al. Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy. Hum Mol Genet. 2008;17:1762-73 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder, characterized by progressive cerebral demyelination cerebral childhood adrenoleukodystrophy (CCALD) or spinal cord neurodegeneration (adrenomyeloneuropathy, AMN),..
  80. Schneider J, Il yasov K, Boltshauser E, Hennig J, Martin E. Diffusion tensor imaging in cases of adrenoleukodystrophy: preliminary experience as a marker for early demyelination?. AJNR Am J Neuroradiol. 2003;24:819-24 pubmed
    ..X-linked adrenoleukodystrophy is a demyelinating disease for which therapy depends on the onset and extension of demyelination...
  81. Semmler A, Kohler W, Jung H, Weller M, Linnebank M. Therapy of X-linked adrenoleukodystrophy. Expert Rev Neurother. 2008;8:1367-79 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD; OMIM #300100) is caused by defects of the ABCD1 gene on chromosome Xq28, resulting in an impairment of peroxisomal beta-oxidation and the accumulation of saturated very long chain fatty acids (VLCFAs)...
  82. Ratai E, Kok T, Wiggins C, Wiggins G, Grant E, Gagoski B, et al. Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Arch Neurol. 2008;65:1488-94 pubmed publisher
    Adults with X-linked adrenoleukodystrophy (X-ALD) remain at risk for progressive neurological deterioration. Phenotypes vary in their pathology, ranging from axonal degeneration to inflammatory demyelination...
  83. Acharya S, Gopal R, Bandgar T, Joshi S, Menon P, Shah N. Clinical profile of adrenoleukodysrophy. Indian J Pediatr. 2009;76:1045-7 pubmed publisher
    X-linked Adrenoleukodystrophy (ALD) is the most common of the peroxisomal disorder and is associated with functional defect of the very long chain fatty acid (VLCFA) oxidation leading to the accumulation of VLCFA in the white matter and ..
  84. Weinhofer I, Forss Petter S, Zigman M, Berger J. Cholesterol regulates ABCD2 expression: implications for the therapy of X-linked adrenoleukodystrophy. Hum Mol Genet. 2002;11:2701-8 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disorder with impaired very long-chain fatty acid (VLCFA) metabolism...
  85. McGuinness M, Lu J, Zhang H, Dong G, Heinzer A, Watkins P, et al. Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy. Mol Cell Biol. 2003;23:744-53 pubmed
    ..X-linked adrenoleukodystrophy (X-ALD) is associated with elevated levels of very-long-chain fatty acids (VLCFA; C(>22:0)) that have ..
  86. Unterberger U, Regelsberger G, Sundt R, Bernheimer H, Voigtlander T. Diagnosis of X-linked adrenoleukodystrophy in blood leukocytes. Clin Biochem. 2007;40:1037-44 pubmed
    Our aim was to replace cultured skin fibroblasts in the diagnosis of X-linked adrenoleukodystrophy (X-ALD) by peripheral blood cells.
  87. Jangouk P, Zackowski K, Naidu S, Raymond G. Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated. Mol Genet Metab. 2012;105:180-5 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease resulting from mutations in the gene ABCD1 and alterations in peroxisomal beta-oxidation of long chain fatty acids...
  88. Ofman R, Dijkstra I, van Roermund C, Burger N, Turkenburg M, van Cruchten A, et al. The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. EMBO Mol Med. 2010;2:90-7 pubmed publisher
    X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding the peroxisomal ABC transporter adrenoleukodystrophy protein (ALDP)...
  89. Oezen I, Rossmanith W, Forss Petter S, Kemp S, Voigtlander T, Moser Thier K, et al. Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency. Hum Mol Genet. 2005;14:1127-37 pubmed
    X-linked adrenoleukodystrophy (X-ALD, OMIM 300100) is a severe inherited neurodegenerative disease, associated with the accumulation of very long-chain fatty acids (VLCFA)...
  90. López Erauskin J, Fourcade S, Galino J, Ruiz M, Schluter A, Naudi A, et al. Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy. Ann Neurol. 2011;70:84-92 pubmed publisher
    ..We aim to demonstrate that antioxidants are able to improve axonal degeneration and locomotor deficits in a mouse model of X-adrenoleukodystrophy (X-ALD).
  91. Weinhofer I, Forss Petter S, Kunze M, Zigman M, Berger J. X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism. FEBS Lett. 2005;579:5512-6 pubmed
    The neurodegenerative disorder X-linked adrenoleukodystrophy (X-ALD) is caused by ABCD1 mutations and characterized by very long-chain fatty acid (VLCFA) accumulation...
  92. Musolino P, Rapalino O, Caruso P, Caviness V, Eichler F. Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy. Brain. 2012;135:2676-83 pubmed publisher
    Magnetic resonance imaging sequences such as diffusion and spectroscopy have been well studied in X-linked adrenoleukodystrophy, but no data exist on magnetic resonance perfusion imaging...
  93. Mahmood A, Dubey P, Moser H, Moser A. X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes. Pediatr Transplant. 2005;9 Suppl 7:55-62 pubmed
    X-linked adrenoleukodystrophy (X-ALD) in males can present with eight distinct phenotypes, which vary greatly in respect to phenotypic expression, age of onset and rate of progression and therapy...
  94. Mukherjee S, Newby E, Harvey J. Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis. J R Soc Med. 2006;99:245-9 pubmed
    To review the clinical presentations and diagnostic issues in adrenomyeloneuropathy and adrenoleukodystrophy, which are different presentations of the same single gene disorder.
  95. Moser H, Dubey P, Fatemi A. Progress in X-linked adrenoleukodystrophy. Curr Opin Neurol. 2004;17:263-9 pubmed
    The purpose of this article is to review and evaluate the new information about X-linked adrenoleukodystrophy that has been reported in 2002 and 2003.
  96. Vargas C, Wajner M, Sirtori L, Goulart L, Chiochetta M, Coelho D, et al. Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy. Biochim Biophys Acta. 2004;1688:26-32 pubmed
    X-linked adrenoleukodystrophy (X-ALD) is a hereditary disorder of peroxisomal metabolism biochemically characterized by the accumulation of very long chain fatty acids (VLCFA), particularly hexacosanoic acid (C26:0) and tetracosanoic acid ..
  97. Orchard P, Lund T, Miller W, Rothman S, Raymond G, Nascene D, et al. Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy. J Neuroinflammation. 2011;8:144 pubmed publisher
    b>Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder characterized by the abnormal beta-oxidation of very long chain fatty acids (VLCFA)...
  98. Rampler H, Weinhofer I, Netik A, Forss Petter S, Brown P, Oplinger J, et al. Evaluation of the therapeutic potential of PPARalpha agonists for X-linked adrenoleukodystrophy. Mol Genet Metab. 2003;80:398-407 pubmed
    b>Adrenoleukodystrophy protein (ABCD1), a peroxisomal membrane protein, is mutated in patients affected by X-linked adrenoleukodystrophy (X-ALD). Adrenoleukodystrophy-related protein (ABCD2) is the closest relative of ABCD1...
  99. Smith S, Golay X, Fatemi A, Mahmood A, Raymond G, Moser H, et al. Quantitative magnetization transfer characteristics of the human cervical spinal cord in vivo: application to adrenomyeloneuropathy. Magn Reson Med. 2009;61:22-7 pubmed publisher
    ..Neither T(2b) nor R showed significant differences between healthy and diseased cords. Comparisons are made between qMT, and conventional MT acquisitions...