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REFERENCES Moser HW, Raymond GV, Dubey P. Adrenoleukodystrophy: new approaches to a neurodegenerative disease. JAMA 2005; 294:3131. Berger J, Gärtner J. X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects. Biochim Biophys Acta 2006; 1763:1721. Linnebank M, Kemp S, Wanders RJ, et al. Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy. Neurology 2006; 66:442. Semmler A, Bao X, Cao G, et al. Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample. J Neurol 2009; 256:1277. Moser HW, Moser AB. Peroxisomal disorders: overview. Ann N Y Acad Sci 1996; 804:427. Bezman L, Moser AB, Raymond GV, et al. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 2001; 49:512. Mosser J, Douar AM, Sarde CO, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993; 361:726. Mosser J, Lutz Y, Stoeckel ME, et al. The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. Hum Mol Genet 1994; 3:265. Migeon BR, Moser HW, Moser AB, et al. Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci U S A 1981; 78:5066. Holzinger A, Kammerer S, Berger J, Roscher AA. cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter. Biochem Biophys Res Commun 1997; 239:261. McGuinness MC, Lu JF, Zhang HP, et al. Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy. Mol Cell Biol 2003; 23:744. van Roermund CW, Visser WF, Ijlst L, et al. The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J 2008; 22:4201. Kemp S, Wanders R. Biochemical aspects of X-linked adrenoleukodystrophy. Brain Pathol 2010; 20:831. Höftberger R, Kunze M, Weinhofer I, et al. Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy. Neurobiol Dis 2007; 28:165. Hudspeth MP, Raymond GV. Immunopathogenesis of adrenoleukodystrophy: current understanding. J Neuroimmunol 2007; 182:5. Raymond GV, Seidman R, Monteith TS, et al. Head trauma can initiate the onset of adreno-leukodystrophy. J Neurol Sci 2010; 290:70.

Höftberger R, Kunze M, Weinhofer I, et al. Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy. Neurobiol Dis 2007; 28:165. Hudspeth MP, Raymond GV. Immunopathogenesis of adrenoleukodystrophy: current understanding. J Neuroimmunol 2007; 182:5. Raymond GV, Seidman R, Monteith TS, et al. Head trauma can initiate the onset of adreno-leukodystrophy. J Neurol Sci 2010; 290:70. Eichler FS, Ren JQ, Cossoy M, et al. Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy? Ann Neurol 2008; 63:729. Powers JM, Pei Z, Heinzer AK, et al. Adreno-leukodystrophy: oxidative stress of mice and men. J Neuropathol Exp Neurol 2005; 64:1067. López-Erauskin J, Galino J, Bianchi P, et al. Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy. Brain 2012; 135:3584. Oezen I, Rossmanith W, Forss-Petter S, et al. Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency. Hum Mol Genet 2005; 14:1127. Hein S, Schönfeld 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. Powers JM. Adreno-leukodystrophy (adreno-testiculo-leukomyelo-neuropathic-complex). Clin Neuropathol 1985; 4:181. Ferrer I, Aubourg P, Pujol A. General aspects and neuropathology of X-linked adrenoleukodystrophy. Brain Pathol 2010; 20:817. Powers JM, Liu Y, Moser AB, Moser HW. The inflammatory myelinopathy of adreno-leukodystrophy: cells, effector molecules, and pathogenetic implications. J Neuropathol Exp Neurol 1992; 51:630. Ito M, Blumberg BM, Mock DJ, et al. 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. J Neuropathol Exp Neurol 2001; 60:1004. 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. Powers JM, DeCiero DP, Ito M, et al. Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy. J Neuropathol Exp Neurol 2000; 59:89.

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. Powers JM, DeCiero DP, Ito M, et al. Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy. J Neuropathol Exp Neurol 2000; 59:89. Powers JM, DeCiero DP, Cox C, et al. The dorsal root ganglia in adrenomyeloneuropathy: neuronal atrophy and abnormal mitochondria. J Neuropathol Exp Neurol 2001; 60:493. Moser HW, Loes DJ, Melhem ER, et al. X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients. Neuropediatrics 2000; 31:227. Moser, HW, Moser, AB, Steinberg, SJ. X-linked adrenoleukodystrophy. GeneReviews. genetests.org. Percy AK, Rutledge SL. Adrenoleukodystrophy and related disorders. Ment Retard Dev Disabil Res Rev 2001; 7:179. Sakai S, Hirayama K, Ogura K, et al. Visual function of a patient with advanced adrenoleukodystrophy: comparison of luminance and color contrast sensitivities. Brain Dev 2008; 30:68. Zackowski KM, Dubey P, Raymond GV, et al. Sensorimotor function and axonal integrity in adrenomyeloneuropathy. Arch Neurol 2006; 63:74. Pillion JP, Moser HW, Raymond GV. Auditory function in adrenomyeloneuropathy. J Neurol Sci 2008; 269:24. Pillion JP, Kharkar S, Mahmood A, et al. Auditory brainstem response findings and peripheral auditory sensitivity in adrenoleukodystrophy. J Neurol Sci 2006; 247:130. Moser HW, Moser AB, Smith KD, et al. Adrenoleukodystrophy: phenotypic variability and implications for therapy. J Inherit Metab Dis 1992; 15:645. Laureti S, Casucci G, Santeusanio F, et al. X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients. J Clin Endocrinol Metab 1996; 81:470. Dubey P, Raymond GV, Moser AB, et al. Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening. J Pediatr 2005; 146:528. Polgreen LE, Chahla S, Miller W, et al. Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes. Eur J Pediatr 2011; 170:1049. Maier EM, Kammerer S, Muntau AC, et al. Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation. Ann Neurol 2002; 52:683.

Polgreen LE, Chahla S, Miller W, et al. Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes. Eur J Pediatr 2011; 170:1049. Maier EM, Kammerer S, Muntau AC, et al. Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation. Ann Neurol 2002; 52:683. Moser AB, Kreiter N, Bezman L, et al. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol 1999; 45:100. Unterberger U, Regelsberger G, Sundt R, et al. Diagnosis of X-linked adrenoleukodystrophy in blood leukocytes. Clin Biochem 2007; 40:1037. Boehm CD, Cutting GR, Lachtermacher MB, et al. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. Mol Genet Metab 1999; 66:128. Young RS, Ramer JC, Towfighi J, et al. Adrenoleukodystrophy: unusual computed tomographic appearance. Arch Neurol 1982; 39:782. Esiri MM, Hyman NM, Horton WL, Lindenbaum RH. Adrenoleukodystrophy: clinical, pathological and biochemical findings in two brothers with the onset of cerebral disease in adult life. Neuropathol Appl Neurobiol 1984; 10:429. MacDonald JT, Stauffer AE, Heitoff K. Adrenoleukodystrophy: early frontal lobe involvement on computed tomography. J Comput Assist Tomogr 1984; 8:128. Melhem ER, Loes DJ, Georgiades CS, et al. X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression. AJNR Am J Neuroradiol 2000; 21:839. Eichler FS, Itoh R, Barker PB, et al. Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience. Radiology 2002; 225:245. Eichler FS, Barker PB, Cox C, et al. Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy. Neurology 2002; 58:901. Dubey P, Fatemi A, Barker PB, et al. Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy. Neurology 2005; 64:304. Dubey P, Fatemi A, Huang H, et al. Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathy. Ann Neurol 2005; 58:758. Fatemi A, Smith SA, Dubey P, et al. Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy. Neurology 2005; 64:1739. Marino S, De Luca M, Dotti MT, et al. Prominent brain axonal damage and functional reorganization in "pure" adrenomyeloneuropathy. Neurology 2007; 69:1261.

Dubey P, Fatemi A, Huang H, et al. Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathy. Ann Neurol 2005; 58:758. Fatemi A, Smith SA, Dubey P, et al. Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy. Neurology 2005; 64:1739. Marino S, De Luca M, Dotti MT, et al. Prominent brain axonal damage and functional reorganization in "pure" adrenomyeloneuropathy. Neurology 2007; 69:1261. Ratai E, Kok T, Wiggins C, et al. Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Arch Neurol 2008; 65:1488. Furushima W, Inagaki M, Gunji A, et al. Early signs of visual perception and evoked potentials in radiologically asymptomatic boys with X-linked adrenoleukodystrophy. J Child Neurol 2009; 24:927. Berger J, Pujol A, Aubourg P, Forss-Petter S. Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy. Brain Pathol 2010; 20:845. Mahmood A, Dubey P, Moser HW, Moser A. X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes. Pediatr Transplant 2005; 9 Suppl 7:55. Aubourg P, Blanche S, Jambaqué I, et al. Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med 1990; 322:1860. Cartier N, Aubourg P. Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy. Brain Pathol 2010; 20:857. Petryk A, Polgreen LE, Chahla S, et al. No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy. Bone Marrow Transplant 2012; 47:1377. Shapiro E, Krivit W, Lockman L, et al. Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. Lancet 2000; 356:713. Peters C, Charnas LR, Tan Y, et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 2004; 104:881. Mahmood A, Raymond GV, Dubey P, et al. Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study. Lancet Neurol 2007; 6:687.

Peters C, Charnas LR, Tan Y, et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 2004; 104:881. Mahmood A, Raymond GV, Dubey P, et al. Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study. Lancet Neurol 2007; 6:687. Miller WP, Rothman SM, Nascene D, et al. Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report. Blood 2011; 118:1971. Moser HW, Moser AB, Hollandsworth K, et al. "Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy. J Mol Neurosci 2007; 33:105. Aubourg P, Adamsbaum C, Lavallard-Rousseau MC, et al. A two-year trial of oleic and erucic acids ("Lorenzo's oil") as treatment for adrenomyeloneuropathy. N Engl J Med 1993; 329:745. van Geel BM, Assies J, Haverkort EB, et al. Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil". J Neurol Neurosurg Psychiatry 1999; 67:290. Moser HW, Raymond GV, Lu SE, et al. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. Arch Neurol 2005; 62:1073. Bezman L, Moser HW. Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes. Am J Med Genet 1998; 76:415. Deon M, Wajner M, Sirtori LR, et al. The effect of Lorenzo's oil on oxidative stress in X-linked adrenoleukodystrophy. J Neurol Sci 2006; 247:157. Singh I, Pahan K, Khan M. Lovastatin and sodium phenylacetate normalize the levels of very long chain fatty acids in skin fibroblasts of X- adrenoleukodystrophy. FEBS Lett 1998; 426:342. Pai GS, Khan M, Barbosa E, et al. Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients. Mol Genet Metab 2000; 69:312. Engelen M, Ofman R, Dijkgraaf MG, et al. Lovastatin in X-linked adrenoleukodystrophy. N Engl J Med 2010; 362:276. Moser HW, Bezman L, Lu SE, Raymond GV. Therapy of X-linked adrenoleukodystrophy: prognosis based upon age and MRI abnormality and plans for placebo-controlled trials. J Inherit Metab Dis 2000; 23:273.

Pai GS, Khan M, Barbosa E, et al. Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients. Mol Genet Metab 2000; 69:312. Engelen M, Ofman R, Dijkgraaf MG, et al. Lovastatin in X-linked adrenoleukodystrophy. N Engl J Med 2010; 362:276. Moser HW, Bezman L, Lu SE, Raymond GV. Therapy of X-linked adrenoleukodystrophy: prognosis based upon age and MRI abnormality and plans for placebo-controlled trials. J Inherit Metab Dis 2000; 23:273. Gondcaille C, Depreter M, Fourcade S, et al. Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator. J Cell Biol 2005; 169:93. Kemp S, Wanders RJ. X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment. Mol Genet Metab 2007; 90:268. Sanders RJ, Ofman R, Duran M, et al. Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy. J Biol Chem 2006; 281:13180. Morita M. [Adrenoleukodystrophy: molecular pathogenesis and development of therapeutic agents]. Yakugaku Zasshi 2007; 127:1059. Mastroeni R, Bensadoun JC, Charvin D, et al. Insulin-like growth factor-1 and neurotrophin-3 gene therapy prevents motor decline in an X-linked adrenoleukodystrophy mouse model. Ann Neurol 2009; 66:117. Cartier N, Hacein-Bey-Abina S, Bartholomae CC, et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 2009; 326:818. Topic 6200 Version 8.0 © 2013 UpToDate, Inc. All rights reserved. | Subscription and License Agreement | Release: 21.4 - C21.36 Licensed to: Southeast Alabama Med Ctr | Support Tag: [0504-58.240.98.179-4C9EBFD82E-S244013.14]