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. ncbi Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy
    Nathalie Cartier
    INSERM UMR745, University Paris Descartes, 75279 Paris, France
    Science 326:818-23. 2009
  2. ncbi X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects
    Stephan Kemp
    Department of Clinical Chemistry, University of Amsterdam, The Netherlands
    Biochim Biophys Acta 1822:1465-74. 2012
  3. ncbi Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy
    A Netik
    Institute of Neurology, University of Vienna, Schwarzspanierstrasse 17, A 1090 Vienna, Austria
    Hum Mol Genet 8:907-13. 1999
  4. pmc Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy
    Jone López-Erauskin
    Neurometabolic Diseases Laboratory, The Bellvitge Institute of Biomedical Research, Hospitalet de Liobregat, Barcelona, Spain
    Ann Neurol 70:84-92. 2011
  5. ncbi General aspects and neuropathology of X-linked adrenoleukodystrophy
    Isidro Ferrer
    Institut Neuropatologia, Servei Anatomia Patològica, Institut d Investigació Biomèdica de Bellvitge IDIBELL Hospital Universitari de Bellvitge, Hospitalet de Llobregat, CIBERNED, Spain
    Brain Pathol 20:817-30. 2010
  6. ncbi cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter
    A Holzinger
    Dr V Hauner Children s Hospital, Ludwig Maximilian University, Munich, Germany
    Biochem Biophys Res Commun 239:261-4. 1997
  7. ncbi Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
    J Mosser
    Laboratoire de Genetique Moleculaire des Eucaryotes du CNRS, INSERM Unite 184, Institut de Chimie Biologique, Faculte de Medecine, Strasbourg, France
    Nature 361:726-30. 1993
  8. pmc Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy
    Jorge Galino
    Neurometabolic Diseases Laboratory, Institut d Investigacio Biomedica de Bellvitge, Hospitalet de Llobregat, Gran Via 199, Barcelona, Spain
    Antioxid Redox Signal 15:2095-107. 2011
  9. ncbi Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy
    Aurora Pujol
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP and Collè de France Illkirch, CU de Strasbourg, France
    Hum Mol Genet 13:2997-3006. 2004
  10. pmc X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
    Marc Engelen
    Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Orphanet J Rare Dis 7:51. 2012

Detail Information

Publications286 found, 100 shown here

  1. ncbi Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy
    Nathalie Cartier
    INSERM UMR745, University Paris Descartes, 75279 Paris, France
    Science 326:818-23. 2009
    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...
  2. ncbi X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects
    Stephan Kemp
    Department of Clinical Chemistry, University of Amsterdam, The Netherlands
    Biochim Biophys Acta 1822:1465-74. 2012
    X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease...
  3. ncbi Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy
    A Netik
    Institute of Neurology, University of Vienna, Schwarzspanierstrasse 17, A 1090 Vienna, Austria
    Hum Mol Genet 8:907-13. 1999
    Inherited defects in the peroxisomal ATP-binding cassette (ABC) transporter adrenoleukodystrophy protein (ALDP) lead to the lethal peroxisomal disorder X-linked adrenoleukodystrophy (X-ALD), for which no efficient treatment has been ..
  4. pmc Antioxidants halt axonal degeneration in a mouse model of X-adrenoleukodystrophy
    Jone López-Erauskin
    Neurometabolic Diseases Laboratory, The Bellvitge Institute of Biomedical Research, Hospitalet de Liobregat, Barcelona, Spain
    Ann Neurol 70:84-92. 2011
    ..We aim to demonstrate that antioxidants are able to improve axonal degeneration and locomotor deficits in a mouse model of X-adrenoleukodystrophy (X-ALD).
  5. ncbi General aspects and neuropathology of X-linked adrenoleukodystrophy
    Isidro Ferrer
    Institut Neuropatologia, Servei Anatomia Patològica, Institut d Investigació Biomèdica de Bellvitge IDIBELL Hospital Universitari de Bellvitge, Hospitalet de Llobregat, CIBERNED, Spain
    Brain Pathol 20:817-30. 2010
    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 ..
  6. ncbi cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter
    A Holzinger
    Dr V Hauner Children s Hospital, Ludwig Maximilian University, Munich, Germany
    Biochem Biophys Res Commun 239:261-4. 1997
    We have cloned the cDNA containing the complete coding region of the human adrenoleukodystrophy related (ALDR) gene. The 2220-bp open reading frame encodes a 740-amino-acid polypeptide with a predicted molecular weight of 83.3 kDa...
  7. ncbi Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
    J Mosser
    Laboratoire de Genetique Moleculaire des Eucaryotes du CNRS, INSERM Unite 184, Institut de Chimie Biologique, Faculte de Medecine, Strasbourg, France
    Nature 361:726-30. 1993
    b>Adrenoleukodystrophy (ALD) is an X-linked disease affecting 1/20,000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adults...
  8. pmc Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy
    Jorge Galino
    Neurometabolic Diseases Laboratory, Institut d Investigacio Biomedica de Bellvitge, Hospitalet de Llobregat, Gran Via 199, Barcelona, Spain
    Antioxid Redox Signal 15:2095-107. 2011
    ..To investigate the intertwining of both noxious factors, we have chosen the mouse model of adrenoleukodystrophy (X-ALD), which exhibits axonal degeneration in spinal cords and motor disability...
  9. ncbi Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy
    Aurora Pujol
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP and Collè de France Illkirch, CU de Strasbourg, France
    Hum Mol Genet 13:2997-3006. 2004
    X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disease caused by loss of function of the peroxisomal transporter ABCD1 (ALD), which results in accumulation of very long chain fatty acids (VLCFAs) in organs and serum, ..
  10. pmc X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
    Marc Engelen
    Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Orphanet J Rare Dis 7:51. 2012
    X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder...
  11. pmc Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction
    Christoph Wiesinger
    Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria
    J Biol Chem 288:19269-79. 2013
    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)...
  12. ncbi The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
    J Mosser
    Laboratoire de Genetique Moleculaire des Eucaryotes, Unité 184 de l INSERM, Faculté de Médecine et CHRU, Strasbourg, France
    Hum Mol Genet 3:265-71. 1994
    b>Adrenoleukodystrophy is a severe genetic demyelinating disease associated with an impairment of beta-oxidation of very long chain fatty acids (VLCFA) in peroxisomes...
  13. ncbi Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy
    J López-Erauskin
    Neurometabolic Diseases Laboratory, Institut d Investigació Biomèdica de Bellvitge IDIBELL, L Hospitalet de Llobregat, Barcelona, Catalonia, Spain
    Hum Mol Genet 22:3296-305. 2013
    X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disorder of the nervous system characterized by axonopathy in spinal cords and/or cerebral demyelination, adrenal insufficiency and accumulation of very long-chain fatty ..
  14. ncbi ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations
    S Kemp
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Hum Mutat 18:499-515. 2001
    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...
  15. pmc Oxidative imbalance in nonstimulated X-adrenoleukodystrophy-derived lymphoblasts
    Takuhiro Uto
    Department of Pediatrics, Charles P Darby Children s Research Institute, Medical University of South Carolina, Charleston, SC 29425, USA
    Dev Neurosci 30:410-8. 2008
    X-Adrenoleukodystrophy (X-ALD) is a peroxisomal disorder characterized by accumulation of very-long-chain (VLC) fatty acids, which induces inflammatory disease and alterations in cellular redox, both of which are reported to play a role ..
  16. ncbi Correlation of very long chain fatty acid accumulation and inflammatory disease progression in childhood X-ALD: implications for potential therapies
    Ajaib Singh Paintlia
    Department of Pediatrics, Medical University of South Carolina, Charleston, SC 29425, USA
    Neurobiol Dis 14:425-39. 2003
    ..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 ..
  17. ncbi Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: a paradigm for multifactorial neurodegenerative diseases?
    Elena Galea
    Universitat Autonoma de Barcelona, Barcelona, Spain
    Biochim Biophys Acta 1822:1475-88. 2012
    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...
  18. ncbi Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy
    Aurora Pujol
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP, B P 163, 67404 Illkirch Cedex, C U de Strasbourg, France
    Hum Mol Genet 11:499-505. 2002
    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)...
  19. pmc The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy
    Rob Ofman
    Academic Medical Center, Departments of Pediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands
    EMBO Mol Med 2:90-7. 2010
    X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding the peroxisomal ABC transporter adrenoleukodystrophy protein (ALDP)...
  20. ncbi X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects
    Johannes Berger
    Center for Brain Research, Medical University of Vienna, Spitalgasse 4, A 1090 Vienna, Austria
    Biochim Biophys Acta 1763:1721-32. 2006
    X-linked adrenoleukodystrophy (X-ALD) is a clinically heterogeneous disorder ranging from the severe childhood cerebral form to asymptomatic persons. The overall incidence is 1:16,800 including hemizygotes as well as heterozygotes...
  21. ncbi Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?
    Florian S Eichler
    Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Ann Neurol 63:729-42. 2008
    Mutations in the X-linked adrenoleukodystrophy (X-ALD) protein cause accumulation of unbranched saturated very-long-chain fatty acids, particularly in brain and adrenal cortex...
  22. ncbi Biochemical aspects of X-linked adrenoleukodystrophy
    Stephan Kemp
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Departments of Pediatrics Emma Children s Hospital and Clinical Chemistry, Amsterdam, The Netherlands
    Brain Pathol 20:831-7. 2010
    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...
  23. ncbi Cholesterol regulates ABCD2 expression: implications for the therapy of X-linked adrenoleukodystrophy
    Isabelle Weinhofer
    Brain Research Institute, University of Vienna, Austria
    Hum Mol Genet 11:2701-8. 2002
    X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disorder with impaired very long-chain fatty acid (VLCFA) metabolism...
  24. ncbi Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism
    T Kobayashi
    Department of Neurology, Faculty of Medicine, Kyushu University, Fukuoka, Japan
    Biochem Biophys Res Commun 232:631-6. 1997
    We have generated a line of mice deficient in adrenoleukodystrophy protein (ALDP) by gene targeting in order to clarify the pathophysiology of adrenoleukodystrophy (ALD)...
  25. pmc Elevated cerebral spinal fluid cytokine levels in boys with cerebral adrenoleukodystrophy correlates with MRI severity
    Troy C Lund
    Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, Minnesota, United States of America
    PLoS ONE 7:e32218. 2012
    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...
  26. pmc Glutathione imbalance in patients with X-linked adrenoleukodystrophy
    Sara Petrillo
    Unit for Neuromuscular and Neurodegenerative Diseases, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Mol Genet Metab 109:366-70. 2013
    X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder of X-linked inheritance caused by a mutation in the ABCD1 gene which determines an accumulation of long-chain fatty acids in plasma and tissues...
  27. pmc 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
    Jaspreet Singh
    Department of Pediatrics, Darby Children s Research Institute, Medical University of South Carolina, Charleston, SC 29425, USA
    J Lipid Res 52:2056-69. 2011
    X-adrenoleukodystrophy (X-ALD) is a peroxisomal metabolic disorder caused by mutations in the ABCD1 gene encoding the peroxisomal ABC transporter adrenoleukodystrophy protein (ALDP)...
  28. ncbi Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation
    Esther M Maier
    Laboratory of Molecular Biology, Dr von Hauner Children s Hospital, University of Munich, Lindwurmstrasse 4, 80337 Munich, Germany
    Ann Neurol 52:683-8. 2002
    Skewing of X inactivation may contribute to the manifestation of symptoms in adrenoleukodystrophy carriers...
  29. pmc Silencing of Abcd1 and Abcd2 genes sensitizes astrocytes for inflammation: implication for X-adrenoleukodystrophy
    Jaspreet Singh
    Department of Pediatrics, Darby Children s Research Institute, Medical University of South Carolina, Charleston, SC, USA
    J Lipid Res 50:135-47. 2009
    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 ..
  30. ncbi Head trauma can initiate the onset of adreno-leukodystrophy
    Gerald V Raymond
    Kennedy Krieger Institute, Baltimore, MD, USA
    J Neurol Sci 290:70-4. 2010
    ..Avoidance of potential head trauma and a rapid response to episodes of moderate to severe head trauma in this patient population seem prudent...
  31. ncbi 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
    M Baarine
    Equipe Biochimie du Peroxysome, Inflammation et Métabolisme Lipidique, Universite de Bourgogne, EA7270, Dijon, France
    Neuroscience 213:1-18. 2012
    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 ..
  32. ncbi Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice
    S Forss-Petter
    Institute of Neurology, University of Vienna, Austria
    J Neurosci Res 50:829-43. 1997
    In its severe form, X-linked adrenoleukodystrophy (ALD) is a lethal neurologic disease of children, characterized by progressive cerebral demyelination and adrenal insufficiency...
  33. ncbi Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients
    Jiho Jang
    Department of Physiology, Brain Korea 21 Project for Medical Science and Severance Biomedical Science Institute, Seoul, Korea
    Ann Neurol 70:402-9. 2011
    ..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 ..
  34. ncbi Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis
    J M Powers
    Department of Pathology Neuropathology and Postmortem Medicine, University of Rochester Medical Center, NY 14642, USA
    Brain Pathol 8:101-20. 1998
    ..These studies confirm that Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD) are a disease continuum...
  35. ncbi X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism
    Isabelle Weinhofer
    Center for Brain Research, Medical University Vienna, Austria
    FEBS Lett 579:5512-6. 2005
    The neurodegenerative disorder X-linked adrenoleukodystrophy (X-ALD) is caused by ABCD1 mutations and characterized by very long-chain fatty acid (VLCFA) accumulation...
  36. ncbi Adreno-leukodystrophy: oxidative stress of mice and men
    James M Powers
    Department of Pathology, University of Rochester Medical Center, Rochester, New York, USA
    J Neuropathol Exp Neurol 64:1067-79. 2005
    ..These differences between the adreno-leukodystrophy mouse and human patients are intriguing and may provide a clue to the phenotypic divergence in this disease...
  37. ncbi Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture
    Sabine Hein
    Institut fur Neurobiochemie, Otto von Guericke Universitat Magdeburg, Leipziger Strasse 44, D 39120 Magdeburg, Germany
    Hum Mol Genet 17:1750-61. 2008
    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...
  38. pmc ABCD2 is a direct target of β-catenin and TCF-4: implications for X-linked adrenoleukodystrophy therapy
    Chul Yong Park
    Department of Physiology, Yonsei University College of Medicine, Seodaemun gu, Seoul, Korea
    PLoS ONE 8:e56242. 2013
    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 ..
  39. ncbi Potential environmental and host participants in the early white matter lesion of adreno-leukodystrophy: morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and CD1-mediated lipid antigen presentation
    M Ito
    Department of Pathology, a University of Rochester School of Medicine and Dentistry, New York, USA
    J Neuropathol Exp Neurol 60:1004-19. 2001
    ..The presentation of lipid antigens may be a key pathogenetic element in ALD and AMN-ALD...
  40. pmc Substrate specificity overlap and interaction between adrenoleukodystrophy protein (ALDP/ABCD1) and adrenoleukodystrophy-related protein (ALDRP/ABCD2)
    Emmanuelle C Genin
    INSERM, UMR866, Centre de Recherche Lipides, Nutrition, Cancer, Dijon F 21000, France
    J Biol Chem 286:8075-84. 2011
    X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene, which encodes a peroxisomal member of the ATP-binding cassette (ABC) transporter subfamily D called ALDP...
  41. ncbi Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy
    Nathalie Cartier
    INSERM UMR745, University Paris Descartes and Department of Pediatric Endocrinology and Neurology, Hopital Saint Vincent de Paul, Paris, France
    Brain Pathol 20:857-62. 2010
    ..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 ..
  42. ncbi Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion
    Eli Hershkovitz
    Pediatric Department, Soroka University Medical Centre, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel
    Ann Neurol 52:234-7. 2002
    ..A bone marrow transplant had an apparently favorable effect. Cytogenetic studies should be performed in all severely symptomatic X-linked adrenoleukodystrophy heterozygotes.
  43. ncbi Diagnosis of X-linked adrenoleukodystrophy in blood leukocytes
    Ursula Unterberger
    Institute of Neurology, Medical University of Vienna, Wahringer Gurtel 18 20, A 1097 Vienna, Austria
    Clin Biochem 40:1037-44. 2007
    Our aim was to replace cultured skin fibroblasts in the diagnosis of X-linked adrenoleukodystrophy (X-ALD) by peripheral blood cells.
  44. ncbi X-linked adrenoleukodystrophy: spinocerebellar variant
    E K Tan
    Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
    Clin Neurol Neurosurg 101:137-40. 1999
    The phenotypic variability in X-linked adrenoleukodystrophy (X-ALD) can be wide and varied. Rarely, it can present with clinical signs of spinocerebellar degeneration...
  45. ncbi Thyroid hormone induction of the adrenoleukodystrophy-related gene (ABCD2)
    Stephane Fourcade
    Laboratoire de Biologie Moleculaire et Cellulaire, Faculte des Sciences Gabriel, Universite de Bourgogne, 6 Boulevard Gabriel, 21000 Dijon, France
    Mol Pharmacol 63:1296-303. 2003
    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...
  46. ncbi Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolin
    A Pujol
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch Cedex, C U de Strasbourg, 67404, France
    Genomics 70:131-9. 2000
    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...
  47. ncbi Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy
    S Schmidt
    Department of Neurology, University of Bonn, Germany
    J Neurol 248:36-44. 2001
    ..No evidence of adrenal insufficiency was detected in any of the patients...
  48. ncbi Incidence of Abcd1 level on the induction of cell death and organelle dysfunctions triggered by very long chain fatty acids and TNF-α on oligodendrocytes and astrocytes
    Mauhamad Baarine
    Centre de Recherche INSERM 866 Lipides, Nutrition, Cancer, Universite de Bourgogne, Equipe Biochimie du Peroxysome, Inflammation et Métabolisme Lipidique, Dijon, France
    Neurotoxicology 33:212-28. 2012
    X-linked adrenoleukodystrophy (X-ALD) is characterized by ABCD1 deficiency. This disease is associated with elevated concentrations of very long chain fatty acids (C24:0 and C26:0) in the plasma and tissues of patients...
  49. ncbi Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy
    C R Vargas
    Department of Clinical Analysis, Pharmacy Faculty, UFRGS, Rua Ramiro Barcelos, 2350 CEP 90 035 003, Porto Alegre, RS, Brazil
    Biochim Biophys Acta 1688:26-32. 2004
    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 ..
  50. ncbi Polyneuropathies in teenagers: a clinicopathological study of 45 cases
    E Kararizou
    Section of Neuropathology, Neurological Clinic of University of Athens, Aeginition Hospital, 72 74, Vass Sofias Avenue, 11528 Athens, Greece
    Neuromuscul Disord 16:304-7. 2006
    ..In our study, CIDP appears to be a frequent cause of neuropathy in teenagers, while the other causes are broadly similar to those found in studies concerning children rather than adults...
  51. pmc Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms
    Ettore Salsano
    Department of Medicine, Surgery and Dentistry, Universita degli Studi di Milano, Milan, Italy
    Orphanet J Rare Dis 7:10. 2012
    Approximately 20% of adrenoleukodystrophy (X-ALD) female carriers may develop clinical manifestations, typically consisting of progressive spastic gait, sensory deficits and bladder dysfunctions...
  52. ncbi Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry
    Fredoen Valianpour
    Departments of Pediatrics Emma Children s Hospital and Clinical Chemistry, Laboratory of Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands
    Mol Genet Metab 79:189-96. 2003
    ..fatty acids (VLCFA) in plasma and tissues are the biochemical hallmark for patients with X-linked adrenoleukodystrophy (X-ALD). Current methods for the determination of VLCFA levels are laborious and time-consuming...
  53. pmc Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy
    Johannes Berger
    Center for Brain Research, Medical University of Vienna, Vienna, Austria
    Brain Pathol 20:845-56. 2010
    Mutations in the ABCD1 gene cause the clinical spectrum of the neurometabolic disorder X-linked adrenoleukodystrophy/adrenomyeloneuropathy (X-ALD/AMN)...
  54. ncbi X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism
    Ying Wang
    DNA Diagnostic Laboratory, Johns Hopkins University School of Medicine, CMSC1004, 600 N Wolfe Street, Baltimore, MD 21287, USA
    Mol Genet Metab 104:160-6. 2011
    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...
  55. ncbi Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method
    Walter C Hubbard
    Division of Clinical Pharmacology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Osler 527, Baltimore, MD 21287, USA
    Mol Genet Metab 97:212-20. 2009
    Newborn screening for X-linked adrenoleukodystrophy (X-ALD) has until now been limited in implementation because of the lack of an accepted standard methodology...
  56. ncbi Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency
    Martina Dumser
    Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090, Vienna, Austria
    Acta Neuropathol 114:573-86. 2007
    X-linked adrenoleukodystrophy (X-ALD) is an inherited neurometabolic disease associated with the accumulation of very long-chain fatty acids...
  57. ncbi Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid
    Stephan Kemp
    University of Amsterdam, Academic Medical Center, Department of Pediatrics Emma Children s Hospital, Laboratory for Genetic Metabolic Diseases, The Netherlands
    Clin Chem 50:1824-6. 2004
  58. ncbi Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy
    P Dubey
    Departments of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD, USA
    Neurology 64:304-10. 2005
    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...
  59. ncbi Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described
    M B Lachtermacher
    Kennedy Krieger Institute, Baltimore, MD 21205, USA
    Hum Mutat 15:348-53. 2000
    X-linked Adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. It mainly involves the nervous system white matter, adrenal cortex and testes. Several distinct clinical phenotypes are known...
  60. ncbi Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy
    D J Loes
    Suburban Radiology Consultant Ltd, Minneapolis, MN, USA
    Neurology 61:369-74. 2003
    X-linked adrenoleukodystrophy (X-ALD) has variants with widely different outcomes, hampering clinical counseling and evaluation of therapies.
  61. ncbi X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes
    J Berger
    Clinical Institute of Neurology, University of Vienna, Austria
    Biochem Biophys Res Commun 205:1638-43. 1994
    Fragments of the adrenoleukodystrophy (ALD) cDNA from a patient with adolescent ALD were amplified by polymerase chain reaction and subcloned...
  62. pmc Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein
    M J Ligtenberg
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Am J Hum Genet 56:44-50. 1995
    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...
  63. ncbi Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy
    Stephane Fourcade
    Centre de Genètica Mèdica i Molecular, Institut d Investigació Biomèdica de Bellvitge IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
    Hum Mol Genet 17:1762-73. 2008
    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),..
  64. ncbi Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999
    Charles Peters
    Department of Pediatrics, University of Minnesota, Minneapolis, USA
    Blood 104:881-8. 2004
    Cerebral X-linked adrenoleukodystrophy (X-ALD) is a disorder of very-long-chain fatty acid metabolism, adrenal insufficiency, and cerebral demyelination...
  65. ncbi Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy
    Stephan Kemp
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics Emma Children s Hospital and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands
    Mol Genet Metab 84:144-51. 2005
    X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder characterized by the accumulation of saturated and mono-unsaturated very long-chain fatty acids (VLCFA) and reduced peroxisomal VLCFA beta-oxidation ..
  66. ncbi X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype
    Esther M Maier
    Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children s Hospital, Research Center, Ludwig Maximilians University, Munich, Germany
    Biochem Biophys Res Commun 377:176-80. 2008
    Strikingly variable clinical phenotypes can be found in X-linked adrenoleukodystrophy (X-ALD) even with the same ABCD1 mutation. ABCD2 is the closest homolog to ABCD1...
  67. ncbi Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy
    Stephane Fourcade
    Neurometabolic Disease Lab, Institut of Neuropathology, Institut d Investigacio Biomedica de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain
    Hum Mol Genet 19:2005-14. 2010
    X-linked adrenoleukodystrophy (X-ALD) is a fatal, axonal demyelinating, neurometabolic disease...
  68. pmc A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern
    G Lombard-Platet
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, Médicale Université Louis Pasteur, C U de Strasbourg, France
    Proc Natl Acad Sci U S A 93:1265-9. 1996
    b>Adrenoleukodystrophy (ALD), a severe demyelinating disease, is caused by mutations in a gene coding for a peroxisomal membrane protein (ALDP), which belongs to the superfamily of ATP binding cassette (ABC) transporters and has the ..
  69. pmc Pathomechanisms underlying X-adrenoleukodystrophy: a three-hit hypothesis
    Inderjit Singh
    Department of Pediatrics, Darby Children Research Institute, Medical University of South Carolina, Charleston, SC, USA
    Brain Pathol 20:838-44. 2010
    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)...
  70. pmc A mouse model for X-linked adrenoleukodystrophy
    J F Lu
    Department of Biology, Johns Hopkins University School of Medicine, 725 North Wolfe Street, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 94:9366-71. 1997
    X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder with impaired beta-oxidation of very long chain fatty acids (VLCFAs) and reduced function of peroxisomal very long chain fatty acyl-CoA synthetase (VLCS) that leads to severe ..
  71. pmc Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator
    Catherine Gondcaille
    Laboratoire de Biologie Moleculaire et Cellulaire, Faculte des Sciences Gabriel, 21000 Dijon, France
    J Cell Biol 169:93-104. 2005
    X-linked adrenoleukodystrophy (X-ALD) is a demyelinating disease due to mutations in the ABCD1 (ALD) gene, encoding a peroxisomal ATP-binding cassette transporter (ALDP)...
  72. pmc Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy
    Paul J Orchard
    Department of Pediatrics, Program in Blood and Marrow Transplantation, University of Minnesota, Minneapolis, USA
    J Neuroinflammation 8:144. 2011
    b>Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder characterized by the abnormal beta-oxidation of very long chain fatty acids (VLCFA)...
  73. ncbi Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy
    Marion Deon
    Servico de Genetica Medica, HCPA, Porto Alegre, RS, Brazil
    Int J Dev Neurosci 25:441-4. 2007
    Patients affected by X-linked adrenoleukodystrophy (X-ALD) present a progressive brain and peripheral demyelination and adrenal cortex insufficiency, associated with accumulation of the very long chain fatty acids (VLCFA) hexacosanoic ..
  74. pmc Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy
    Agatha Schluter
    Neurometabolic Diseases Laboratory and Institut de Neuropatologia de Bellvitge, L Hospitalet de Llobregat, 08908 Barcelona, Spain
    Hum Mol Genet 21:1062-77. 2012
    X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder characterized by axonopathy and demyelination in the central nervous system and adrenal insufficiency...
  75. ncbi X-linked adrenoleukodystrophy: genes, mutations, and phenotypes
    K D Smith
    The Kennedy Krieger Institute and Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Neurochem Res 24:521-35. 1999
    X-linked adrenoleukodystrophy (X-ALD) is a complex and perplexing neurodegenerative disorder...
  76. ncbi Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy
    Muriel Asheuer
    Institut National de la Santé et de la Recherche Médicale U561, Hopital Saint Vincent de Paul, Paris, France
    Hum Mol Genet 14:1293-303. 2005
    Childhood cerebral adrenoleukodystrophy (CCER), adrenomyeloneuropathy (AMN) and AMN with cerebral demyelination (AMN-C) are the main phenotypic variants of X-linked adrenoleukodystrophy (ALD)...
  77. ncbi X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment
    Stephan Kemp
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Mol Genet Metab 90:268-76. 2007
    X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene that encodes a peroxisomal membrane located ABC half-transporter named ALDP...
  78. pmc Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil"
    B M van Geel
    Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 67:290-9. 1999
    X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal fatty acid oxidation, biochemically characterised by the accumulation of saturated very long chain fatty acids (VLCFAs), particularly hexacosanoic acid (C26:0)...
  79. ncbi Lovastatin and sodium phenylacetate normalize the levels of very long chain fatty acids in skin fibroblasts of X- adrenoleukodystrophy
    I Singh
    Department of Pediatrics, Medical University of South Carolina, Charleston 29425, USA
    FEBS Lett 426:342-6. 1998
    ..accumulation of saturated very long chain fatty acids (VLCFA) in cultured skin fibroblasts of X-adrenoleukodystrophy (X-ALD) in which the ALD gene is either mutated or deleted...
  80. ncbi Serum autoantibody responses to myelin oligodendrocyte glycoprotein and myelin basic protein in X-linked adrenoleukodystrophy and multiple sclerosis
    S Schmidt
    Department of Neurology, University of Bonn, Sigmund Freud Strasse 25, 53105, Bonn, Germany
    J Neuroimmunol 119:88-94. 2001
    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 ..
  81. ncbi Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening
    Christopher A Haynes
    Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
    Clin Chim Acta 413:1217-21. 2012
    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)...
  82. ncbi Epidemiology of X-linked adrenoleukodystrophy in Japan
    Yasuhiko Takemoto
    Department of Pediatrics Gifu, University School of Medicine, 40 Tsukasa Machi, Gifu 500 8705, Japan
    J Hum Genet 47:590-3. 2002
    To clarify the epidemiology of X-linked adrenoleukodystrophy (ALD) in Japan, we performed a questionnaire survey...
  83. ncbi X-linked adrenoleukodystrophy with olivopontocerebellar atrophy
    M Vianello
    O U Neurology, Treviso, Italy
    Eur J Neurol 12:912-4. 2005
    X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder characterized by adrenal, gonadal and nervous system dysfunction. Patients usually develop spinal cord degeneration with involvement of the cerebral white matter...
  84. pmc Altered expression of ALDP in X-linked adrenoleukodystrophy
    P A Watkins
    Kennedy Krieger Research Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Hum Genet 57:292-301. 1995
    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...
  85. ncbi A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene
    J Mosser
    Laboratoire de Genetique Moleculaire des Eucaryotes du CNRS, Unité 184 de Génétique Moléculaire de l INSERM, Strasbourg, France
    Genomics 22:469-71. 1994
    ..This gene is transcribed from the same CpG island as the adrenoleukodystrophy gene (ALD) and oriented in the opposite direction. It encodes a 1...
  86. pmc 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
    Jaspreet Singh
    Department of Pediatrics, Darby Children Research Institute, Medical University of South Carolina, Charleston, SC 29425, USA
    Biochim Biophys Acta 1831:747-58. 2013
    X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene...
  87. ncbi Fibrate induction of the adrenoleukodystrophy-related gene (ABCD2): promoter analysis and role of the peroxisome proliferator-activated receptor PPARalpha
    S Fourcade
    Laboratoire de Biologie Moleculaire et Cellulaire, Universite de Bourgogne, Dijon, France
    Eur J Biochem 268:3490-500. 2001
    X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease due to a defect in the ABCD1 (ALD) gene...
  88. ncbi Diagnostic patterns of very-long-chain fatty acids in plasma of patients with X-linked adrenoleukodystrophy
    M J Paik
    Seoul Clinical Laboratories (SCL, Seoul Medical Science Institute, South Korea
    J Chromatogr B Biomed Sci Appl 760:149-57. 2001
    ..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...
  89. ncbi Graves' orbitopathy in a patient with adrenoleukodystrophy after bone marrow transplantation
    Y Vardizer
    Department of Ophthalmology, Orbital Center, University of Amsterdam, Room D2 436, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Eur J Endocrinol 161:369-73. 2009
    For many years, the treatment of X-linked childhood cerebral adrenoleukodystrophy (XALD) consisted of hydrocortisone replacement and a mixture of short chain-fatty acids, known as 'Lorenzo's oil'...
  90. ncbi Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene
    Carla P Guimaraes
    Department of Genetic Neurobiology, IBMC, Porto University, Portugal
    Mol Genet Metab 76:62-7. 2002
    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...
  91. ncbi Transduced CD34+ cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice
    Sonia Benhamida
    INSERM U561, Hopital Saint Vincent de Paul, 75014 Paris, France
    Mol Ther 7:317-24. 2003
    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 ..
  92. ncbi Asymmetric cerebral lesion pattern in X-linked adrenoleukodystrophy
    Shuang Wang
    Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, China
    J Chin Med Assoc 69:383-6. 2006
    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...
  93. ncbi Absence of circulating adrenal autoantibodies in adult-onset X-linked adrenoleukodystrophy
    S Laureti
    Dipartimento di Medicina Interna e Scienze Endocrine e Metaboliche, , Italy
    Horm Metab Res 28:319-22. 1996
    X-linked adrenoleukodystrophy (ALD) is a frequent cause of adrenal insufficiency in young-adult patients with Addison's disease...
  94. ncbi Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy
    A Fatemi
    Neurogenetics Research Center, Kennedy Krieger Institute, Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
    Neurology 64:1739-45. 2005
    ..In adrenomyeloneuropathy (AMN) conventional MRI detects only spinal cord atrophy in the late stages...
  95. ncbi ABC subfamily D proteins and very long chain fatty acid metabolism as novel targets in adrenoleukodystrophy
    M Morita
    Department of Biological Chemistry, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama 930 0194, Japan
    Curr Drug Targets 12:694-706. 2011
    ..ABCD1 is known to be responsible for X-linked adrenoleukodystrophy (X-ALD); an inborn error of peroxisomal β-oxidation of very long chain fatty acids...
  96. ncbi Visual function of a patient with advanced adrenoleukodystrophy: comparison of luminance and color contrast sensitivities
    Shinya Sakai
    Department of Occupational Therapy, Hokkaido University School of Health Sciences, N 15 W 5 Kita ku, Sapporo 060 0812, Japan
    Brain Dev 30:68-72. 2008
    ..He showed severe motor and intellectual disabilities after advanced adrenoleukodystrophy, which started at the age of 7...
  97. ncbi Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up
    Ji Hyung Kim
    Department of Diagnostic Radiology, Konyang University Hospital, 685 Gasuwon dong, Seo Gu, Daejeon City 302 718, South Korea
    Radiographics 25:619-31. 2005
    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...
  98. ncbi Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome
    W Krivit
    University of Minnesota and Institute of Human Genetics, Minneapolis 55455, USA
    Curr Opin Hematol 6:377-82. 1999
    ..Treatment is directed to prevent or ameliorate the inexorable neurological deterioration that is the major pathophysiological event in all of these inherited metabolic storage diseases...
  99. ncbi Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28
    Nadine Gigarel
    Département de génétique, U393, Hopital Necker Enfants Malades, 75015 Paris, France
    Hum Genet 114:298-305. 2004
    ..long arm is a highly gene-rich region encompassing disease genes such as haemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti...
  100. ncbi Disruption of a yeast very-long-chain acyl-CoA synthetase gene simulates the cellular phenotype of X-linked adrenoleukodystrophy
    P A Watkins
    Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Cell Biochem Biophys 32:333-7. 2000
    X-linked adrenoleukodystrophy (X-ALD) is characterized biochemically by elevated levels of saturated very long-chain fatty acids (VLCFAs) in plasma and tissues...
  101. ncbi Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3)
    Merle Hillebrand
    Department of Pediatrics and Pediatric Neurology, Georg August University, Faculty of Medicine, Robert Koch Strasse 40, 37075 Gottingen, Germany
    J Biol Chem 282:26997-7005. 2007
    The adrenoleukodystrophy protein (ALDP) and the 70-kDa peroxisomal membrane protein (PMP70) are half-ATP-binding cassette (ABC) transporters in the mammalian peroxisome membrane...

Research Grants47

  1. X-Linked Adrenoleukodystrophy Screening in Newborn Males
    Edwin Naylor; Fiscal Year: 2002
    X-linked adrenoleukodystrophy is a neurodegenerative disorder that is characterized by both an aggressive cerebral form that suddenly strikes in childhood and by a milder adult form that presents primarily as a distal axonopathy...
  2. Modeling Neurodegeneration and Adrenoleukodystrophy in Drosophila
    Anthea Letsou; Fiscal Year: 2010
    b>Adrenoleukodystrophy (ALD) is a rare and oftentimes fatal progressive neurodegenerative disease. The most common form of the disease is X-linked (X-ALD);it occurs equally in all ethnic groups with an estimated incidence of 1:17,000...
  3. Biological Variation in Hemophilia
    JOHN S LOLLAR; Fiscal Year: 2013
    ..Advances in hematopoietic stem cell (HSC)-based gene therapy for other congenital disorders, including adrenoleukodystrophy and severe combined immunodeficiency disease, and preclinical studies in a murine hemophilia A model at ..
  4. FATTY ACID OXIDATION IN X-LINKED ADRENOLEUKODYSTROPHY
    Inderjit Singh; Fiscal Year: 2013
    ..and to evaluate the efficacy of interventions of these signaling pathways as possible therapeutics for X-Adrenoleukodystrophy (X-ALD)...
  5. Engraftment and in vivo selection of HIV-protected stem cells
    Ann E Woolfrey; Fiscal Year: 2013
    ..to result in substantial improvement and even cure for a number of diseases such as hemoglobinopathies and adrenoleukodystrophy. In addition, HSC transplantation has recently been shown to result in the cure of HIV when HIV-resistant ..
  6. Mechanisms and Therapeutic Treatments for Inherited Retinal Degenerative Diseases
    Robert S Molday; Fiscal Year: 2013
    ..disease will enhance our understanding and treatment of other diseases (cystic fibrosis, Tangiers disease, adrenoleukodystrophy, etc...
  7. Structural mechanics of MsbA family ABC transporters
    John Hunt; Fiscal Year: 2009
    ..function of human ABC Transporters plays a central role in a variety of diseases including cystic fibrosis, adrenoleukodystrophy, and multidrug resistance in advanced tumors and leukemias...
  8. Imaging the Pathophysiology of AMN in Mice and Humans
    Florian S Eichler; Fiscal Year: 2010
    ..his knowledge of MR physics and expertise in imaging studies of adrenomyeloneuropathy (AMN), a form of adrenoleukodystrophy (ALD), while providing rigorous exposure to the clinical and biological side of this research...
  9. NOVEL TECHNOLOGIES IN NEWBORN SCREENING
    M D MATERN; Fiscal Year: 2012
    ..for an increasing number of lysosomal storage disorders (LSDs), Friedreich Ataxia, Wilson disease and X-adrenoleukodystrophy, inclusion of these conditions into newborn screening programs seems reasonable...
  10. Mechanisms in Multidrug ABC Transporters
    RONALD DAVID HILLS; Fiscal Year: 2010
    ..our understanding of hereditary diseases such as cystic fibrosis, Tangier disease, Stargardt disease, age-related macular degeneration, adrenoleukodystrophy, Dubin-Johnson syndrome and progressive familial intrahepatic cholestasis.
  11. Predicting common protein mechanisms by the light of evolution
    ANDREW NEUWALD; Fiscal Year: 2009
    ..hereditary spastic paraplegia and the neurologic disorders torsin dystonia, Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease...
  12. Mutational Analysis of Peroxisome Biogenesis Disorders
    Joseph Hacia; Fiscal Year: 2006
    ..we will identify causative mutations in genomic DNA from patients within the Zellweger syndrome-neonatal adrenoleukodystrophy-infantile Refsum disease (ZS-NALDIRD) spectrum of PBDs and analyze their activity in cultured fibroblasts ..
  13. PATHOGENIC MECHANISMS OF LEUKODYSTROPHIES
    Steven Levine; Fiscal Year: 2000
    ..response that is simple by comparison to other demyelinating diseases such as multiple sclerosis and adrenoleukodystrophy, and 3) it can be treated with bone marrow transplantation (BMT)...
  14. LEUKODYSTROPHIC STATES IN PSYCHIATRIC PATIENTS
    FRANK SCHOENFELD; Fiscal Year: 1992
    ..is indicated by a deficiency in galactosyl ceramide B-galacto-sidase activity and the presence of adrenoleukodystrophy is indicated by the accumulation of a very long chain fatty acids (VLCFA) in body tissues...
  15. MYELIN P2 PROTEIN--STUDY OF EXPRESSION AND REGULATION
    Vinodh Narayanan; Fiscal Year: 1992
    ..specific protein with known metabolic activity), (b) enhance our knowledge of the process of myelination, and (c) provide molecular probes for the study of dysmyelinating disorders, such as Guillain-Barre syndrome or adrenoleukodystrophy.
  16. TARGETING OF PROTEINS INTO PEROXISOMES
    Suresh Subramani; Fiscal Year: 2003
    ..disorders (Zellweger's syndrome, Hyperpipecolic acidaemia, infantile Refsum's disease and neonatal adrenoleukodystrophy) which can be very debilitating and lethal...
  17. GENETIC CAUSES OF MENTAL RETARDATION
    KIRBY SMITH; Fiscal Year: 2006
    ..The first Project (Smith) will determine the function of the X-linked of the X-linked adrenoleukodystrophy (XALD) protein, explore causes of the marked clinical heterogeneity that typifies this disease and test ..
  18. FATTY ACID OXIDATION IN X-LINKED ADRENOLEUKODYSTROPHY
    Inderjit Singh; Fiscal Year: 2009
    X-Adrenoleukodystrophy (X-ALD) is an inherited neurological disorder...
  19. MOLECULAR MECHANISMS OF MALTOSE TRANSPORT
    Amy Davidson; Fiscal Year: 2006
    ..in human homologs are responsible for over a dozen serious human diseases including cystic fibrosis, adrenoleukodystrophy and cholestasis. The maltose transport system of E...
  20. Novel Genetic Approaches to Structure and Function of M*
    Howard Shuman; Fiscal Year: 2002
    ..These include cystic fibrosis (CFTR); hyperinsulinemia hypoglycemia (SUR1), macular degeneration (ABCR); adrenoleukodystrophy (ALDP); and multiple drug resistance in tumors (P-glycoprotein, MDR1).
  21. FATTY ACID METABOLISM IN ADRENOLEUKODYSTROPHY
    WILLIAM RIZZO; Fiscal Year: 1990
    ..the abnormal metabolism of very long chain fatty acids (VLFA) in patients with the inherited disorders, adrenoleukodystrophy (ALD), who are deficient in VLFA oxidation...
  22. Mechanism of Actions of Multitasking of Statins in AD
    Inderjit Singh; Fiscal Year: 2006
    ..abstract_text> ..
  23. Structure/Function of Peroxisomes in Neuroinflammation
    Inderjit Singh; Fiscal Year: 2008
    ..unreadable] [unreadable]..
  24. Functional Studies in Adrenomyeloneuropathy
    Gerald Raymond; Fiscal Year: 2005
    b>Adrenoleukodystrophy is a genetic disorder that results from a defect in peroxisomal beta oxidation with the accumulation of saturated very long chain fatty acids (VLCFA) due to mutations in ABCD 1, a gene located at Xq28...
  25. A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy
    Gerald Raymond; Fiscal Year: 2009
    ..trierucate (Lorenzo's Oil or LO) therapy in adrenomyeloneuropathy (AMN), the adult form of X-linked adrenoleukodystrophy (X-ALD)...
  26. THERAPEUTIC TRIALS OF X-LINKED ALD: PHASE III; LORENZO*
    Gerald Raymond; Fiscal Year: 2008
    ..to conduct a double-masked, placebo-controlled study of LO therapy in AMN, the adult form of X-Iinked adrenoleukodystrophy (X-ALD). AMN is slowly progressive...
  27. REACTIVE NITROGEN & CEREBRAL ISCHEMIC INJURY
    MUSH KHAN; Fiscal Year: 2003
    ....
  28. Brain Uptake and Utilization of Fatty Acids and Lipids
    Paul Watkins; Fiscal Year: 2004
    ..Mol. Neurosci., which has committed to publish the proceedings of the proposed meeting. ..
  29. Peroxisome Membrane Biogenesis
    Stephen Gould; Fiscal Year: 2004
    ..abstract_text> ..
  30. First International Symposium on Osteopetrosis:
    Paul Orchard; Fiscal Year: 2003
    ..abstract_text> ..
  31. XALD: Role of Very Long Chain Fatty Acyl-CoA Synthetases
    Paul Watkins; Fiscal Year: 2006
    ..VLCFA accumulate in plasma and tissues of patients with X-linked adrenoleukodystrophy (XALD), a severe, often fatal neurodegenerative disorder...
  32. Micromass Quattro API TSQ For LC-MS/MS Quantitation
    Walter Hubbard; Fiscal Year: 2002
    ..abstract_text> ..
  33. IN VIVO TREATMENT OF EAE WITH ANTI I-A ANTIBODIES
    Lawrence Steinman; Fiscal Year: 2001
    ..Aim 5 is to assess the possibility of using DNA vaccination against TCR Vb for treatment of EAE. It is hoped that these studies will provide the basis for future clinical trials in MS patients. ..
  34. MR Microimaging of Alzheimer's Mouse Models
    Susumu Mori; Fiscal Year: 2005
    ..Hypothesis: The amyloid plaque detection and volume measurements can be achieved in vivo. To confirm these hypotheses, 2 mouse strains of the AD model will be studied at 4 different ages. ..
  35. DtiStudio: Resource Software for Diffusion Tensor Imaging
    Susumu Mori; Fiscal Year: 2010
    ..This also provides an environment for open source. Aim 4: Upgrade to integrate new technologies. ..
  36. PEX7 AND IT'S ROLE IN THE PATHOGENESIS OF RCDP
    Nancy Braverman; Fiscal Year: 2005
    ..This information will contribute to understanding the pathophysiology of RCDP as well as the normal biology of peroxisome assembly and function in bone, lens and CNS development. ..
  37. Mouse Brain Development Study by MRI
    Susumu Mori; Fiscal Year: 2003
    ..abstract_text> ..
  38. PEPTIDE MEDIATED IMMUNOTHERAPY FOR AUTOIMMUNE DISEASE
    Lawrence Steinman; Fiscal Year: 2003
    ..This work with APL may be applicable not only to MS, but to other autoimmune diseases including juvenile diabetes, rheumatoid arthritis, and inflammatory bowel disease. ..
  39. Large Scale Images of Gene Transcription in MS and EAE
    Lawrence Steinman; Fiscal Year: 2004
    ..The discovery of the role of osteopontin, first identified in large scale profiles, exemplifies how this approach may help us to understand MS and to develop new therapies. ..
  40. Neurochemical Correlates of Pathology in Spinocerebellar Ataxias
    GULIN OZ; Fiscal Year: 2008
    ..Successful application of such treatments is expected to reduce the burden caused by these diseases on individuals, their families and society. [unreadable] [unreadable] [unreadable]..
  41. MATHEMATICAL MODELING IN NUTRITION
    James Hargrove; Fiscal Year: 2003
    ..Lastly, a panel will discuss the use of modeling in undergraduate and graduate education, and will make recommendations for appropriate activities of a new Research Interest Section on Mathematical Modeling. ..
  42. MR-Based Study of Hypomyelination by Lead Poisoning
    Susumu Mori; Fiscal Year: 2007
    ..Using the MRI-based technique and normative database established under Aim 1 and 2, we will perform comprehensive myelination studies to examine the hypothesis [unreadable] [unreadable]..