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References and Further Reading

  • Afifi AK, Menezes AH, Reed LA, Bell WE. Atypical presentation of X-linked childhood adrenoleukodystrophy with an unusual magnetic resonance imaging pattern. J Child Neurol 1996; 11: 497–499

    CAS  PubMed  Google Scholar 

  • Asano J-I, Suzuki Y, Yajima S, Iioue K, Shimozawa N, Kondo N, Murase M, Orii T. Effects of erucic acid therapy on Japanese patients with X-linked adrenoleukodystrophy. Brain Dev 1994; 16: 454–458

    Article  CAS  PubMed  Google Scholar 

  • Aubourg P, Dubois-Dalcq M. X-linked adrenoleukodystrophy enigma: how does the ALD peroxisomal transporter mutation affect CNS glia? Glia 2000; 29: 186–190

    Article  CAS  PubMed  Google Scholar 

  • Aubourg P, Blanche S, Jambaqué I, Rocchiccioli F, Kalifa G, Naud-Saudreau C, Rolland MO, Debré M, Chaussain JL, Griscelli C, Fischer A, Bougnères P-F. Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med 1990; 322: 1860–1866

    CAS  PubMed  Google Scholar 

  • Aubourg P, Adamsbaum C, Lavallard-Rousseau M-C, Rocchiccioli F, Cartier N, Jambaqué I, Jakobezak C, Lemaitre A, Boureau F, Wolf C, Bougnères P-F. A two-year trail of oleic and erucic acids (“Lorenzo’s oil”) as treatment for adrenomyeloneuropathy. N Engl J Med 1993; 329: 745–752

    Article  CAS  PubMed  Google Scholar 

  • Aubourg P, Mandel JL. X-linked adrenoleukodystrophy. Ann NY Acad Sci 1996; 804: 461–476

    CAS  PubMed  Google Scholar 

  • Barkovich AJ, Ferriero DM, Bass N, Boyer R. Involvement of the pontomedullary corticospinal tracts: a useful finding in the diagnosis of X-linked adrenoleukodystrophy. AJNR Am J Neuroradiol 1997; 18: 95–100

    CAS  PubMed  Google Scholar 

  • Baumann M, Korenke GC, Widdige-Diedrichs A, Wilichowski E, Hunneman DH, Wilken B, Brockmann K, Klingebiel T, Niethammer D, Kühl J, Ebell W, Hanefeld F. Haematopoietic stem cell transplantation in 12 patients with cerebral Xlinked adrenoleukodystrophy. Eur J Pediatr 2003; 162: 6–14

    Article  PubMed  Google Scholar 

  • Bekiesiñska-Figatowska M, Tylki-Szymañska A, Walekci J, Stradomska TJ. MRI findings in a asymptomatic boy with X-linked adrenoleukodystrophy and his symptomatic mother. Neuroradiology 2001; 43: 951–952

    PubMed  Google Scholar 

  • Bezman L, Moser AB, Raymond GV, Rinaldo P, Watkins PA, Smith KD, Kass NE, Moser HW. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 2001; 49: 512–517

    Article  CAS  PubMed  Google Scholar 

  • Borker A, Yu LC. Unrelated allogeneic bone marrow transplant in adrenoleukodystrophy using CD34+ stem cell selection. Metab Brain Dis 2002; 17: 139–142

    Article  CAS  PubMed  Google Scholar 

  • Boutin B, Matsuguchi L, Lebon P, Ponsol G, Arthuis C. Immunohistochemical analysis of brain macrophages in adrenoleukodystrophy. Neuropediatrics 1989; 20: 202–206

    CAS  PubMed  Google Scholar 

  • Brown FR, Chen WW, Kirschner DA, Frayer KL, Powers JM, Moser AB, Moser HW. Myelin membrane from adrenoleukodystrophy brain white matter — biochemical properties. J Neurochem 1983; 41: 341–348

    CAS  PubMed  Google Scholar 

  • Cartier N, Guidoux S, Rocchiccioli F, Aubourg P. Simvastatin does not normalize very long chain fatty acids in adrenoleukodystrophy mice. FEBS Lett 2000; 478: 205–208

    Article  CAS  PubMed  Google Scholar 

  • Confort-Gouny S, Vion-Dury J, Chabrol B, Nicoli F, Cozzone PJ. Localised proton magnetic resonance spectroscopy in X-linked adrenoleukodystrophy. Neuroradiology 1995; 37: 568–575

    Article  CAS  PubMed  Google Scholar 

  • Di Rocco M, Doria-Lamba L, Caruso U. Monozogotic twins with X-linked adrenoleukodystrophy and different phenotypes. Ann Neurol 2001; 50: 424

    PubMed  Google Scholar 

  • Dodd A, Rowland SA, Hawkes SLJ, Kennedy MA, Love DR. Mutations in the adrenoleukodystrophy gene. Hum Mutat 1997; 9: 500–511

    Article  CAS  PubMed  Google Scholar 

  • Domagk J, Linke I, Argyrakis A, Spaar FW, Rahlf G, Schulte FJ. Adrenoleukodystrophy. Neuropediatrics 1975; 6: 41–64

    Google Scholar 

  • Dubois-Dalcq M, Feigenbaum V, Aubourg P. The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder. Trends Neurosci 1999; 22: 4–12

    Article  CAS  PubMed  Google Scholar 

  • Dumic M, Gubarev n, Sikic N, Roscher A, Plavsic V, Filipovic-Grcic B. Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy. Am J Med Genet 1992; 43: 829–832

    Article  CAS  PubMed  Google Scholar 

  • Dunne E, Hyman NM, Huson SM, Németh AH. A novel point mutation in X-linked adrenoleukodystrophy presenting as spinocerebellar degeneration. Ann Neurol 1999; 45: 652–655

    Article  CAS  PubMed  Google Scholar 

  • Dziewas R, Stögbauer F, Oelerich M, Ritter M, Husstedt IW. A case of adrenomyeloneuropathy with unusual lesion pattern in magnetic resonance imaging. J Neurol 2001; 248: 341–342

    Article  CAS  PubMed  Google Scholar 

  • Edwin D, Speedie LJ, Kohler W, Naidu S, Kruse B, Moser HW. Cognitive and brain magnetic resonance imaging findings in adrenomyeloneuropathy. Ann Neurol 1996; 40: 675–678

    Article  CAS  PubMed  Google Scholar 

  • Eichler FS, Barker PB, Cox C, Edwin D, Ulug AM, Moser HW, Raymond GV. Proton MR spectroscopic imaging predicts lesion progression or MRI in X-linked adrenoleukodystrophy. Neurology 2002; 58: 901–907

    CAS  PubMed  Google Scholar 

  • Eichler FS, Itoh R, Barker PB, Mori S, Garrett ES, van Zijl PCM, Moser HW, Raymond GV, Melhem ER. Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience. Radiology 2002; 225: 245–252

    PubMed  Google Scholar 

  • Elrington GM, Bateman DE, Jeffrey MJ, Flawton N. Adrenoleukodystrophy: heterogeneity in two brothers. J Neurol Neurosurg Psychiatry 1989; 52: 310–313

    CAS  PubMed  Google Scholar 

  • Engelbrecht V, Rassek M, Gärtner J, Kahn T, Mödder U. The value of new MRI techniques in adrenoleukodystrophy. Pediatr Radiol 1997; 27: 207–215

    Article  CAS  PubMed  Google Scholar 

  • Farrell DF, Hamilton SR, Knauss TA, Sanocki E, Deeb SS. X-Linked adrenoleukodystrophy: adult cerebral variant. Neurology 1993; 43: 1518–1522

    CAS  PubMed  Google Scholar 

  • Fatemi A, Barker PB, Uluğ AM, Nagae-Poetcher LM, Beauchamp NJ, Moser AB, Raymond GV, Moser HW, Naidu S. MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy. Neurology 2003; 60: 1301–1307

    CAS  PubMed  Google Scholar 

  • Feigenbaum V, Gélot A, Casanova P, Daumas-Duport C, Aubourg P, Dubouis-Dalcq M. Apoptosis in the central nervous system of cerebral adrenoleukodystrophy patients. Neurobiol Dis 2000; 7: 600–612

    Article  CAS  PubMed  Google Scholar 

  • Gärtner J, Braun A, Holzinger A, Roerig P, Lenard H-G, Roscher AA. Clinical and genetic aspects of X-linked adrenoleukodystrophy. Neuropediatrics 1998; 29: 3–13

    PubMed  Google Scholar 

  • Garg BP, Markand ON, DeMeyer WE, Warren C Jr. Evoked response studies in patients with adrenoleukodystrophy and heterozygous relatives. Arch Neurol 1983; 40: 356–359

    CAS  PubMed  Google Scholar 

  • Garside S, Rosebush PI, Levinson AJ, Mazurek MF. Late-onset adrenoleukodystrophy associated with long-standing psychiatric symptoms. J Clin Psychiatry 1999; 60: 460–468

    CAS  PubMed  Google Scholar 

  • Hershkovitz E, Narkis G, Shorer Z, Moser AB, Watkins PA, Moser HW, Manor E. Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion. Ann Neurol 2002; 52: 234–237

    Article  PubMed  Google Scholar 

  • Hitomi T, Mezaki T, Tsujii T, Kinoshita M, Tomimoto H, Ikeda A, Shimohama S, Okazaki T, Uchiyama T, Shibasaki H. Improvement of central motor conduction after bone marrow transplantation in adrenoleukodystrophy. J Neurol Neurosurg Psychiatry 2003; 74: 373–375

    Article  CAS  PubMed  Google Scholar 

  • Hong-Magno ET, Muraki AS, Huttenlocher PR. Atypical CT scans in adrenoleukodystrophy. J Comput Assist Tomogr 1987; 11: 333–336

    CAS  PubMed  Google Scholar 

  • Igarashi M, Schaumburg HH, Powers J, Kishimoto Y, Kolodny E, Suzuki K. Fatty acid abnormality in adrenoleukodystrophy. J Neurochem 1976; 26: 851–860

    CAS  PubMed  Google Scholar 

  • Ito M, Blumberg BM, Mock DJ, Goodman AD, Moser AB, Moser HW, Smith KD, Powers JM. Potential environmental and host participants in the early white matter lesions of adrenoleukodystrophy: morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and CD-1 mediated lipid antigen presentation. J Neuropathol Exp Neurol 2001; 60: 1004–1019

    CAS  PubMed  Google Scholar 

  • Ito R, Melhem ER, Mori S, Eichler FS, Raymond GV, Moser HW. Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy. Neurology 2001; 56: 544–547

    CAS  PubMed  Google Scholar 

  • Jensen ME, Sawyer RW, Braun IF, Rizzo WB. MR imaging appearance of childhood adrenoleukodystrophy with auditory, visual, and motor pathway involvement. Radiographics 1990; 10: 53–66

    CAS  PubMed  Google Scholar 

  • Izquierdo M, Adamsbaum C, Benosman A, Aubourg P, Bittoun J. MR spectroscopic imaging of normal-appearing white matter in adrenoleukodystrophy. Pediatr Radiol 2000; 30: 621–629

    Article  CAS  PubMed  Google Scholar 

  • Jorge P, Quelhas D, Oliveira P, Pinto R, Nogueira A. X-Linked adrenoleukodystrophy in patients with idiopathic Addison disease. Eur J Pediatr 1994; 153: 594–597

    CAS  PubMed  Google Scholar 

  • Kano S, Watanabe M, Kanai M, Koike R, Onodera O, Tsuji S, Okamoto K, Shoji M. A Japanese family with adrenoleukodystrophy with a codon 291 deletion: a clinical, biochemical, pathological, and genetic report. J Neurol Sci 1998; 158: 187–192

    Article  CAS  PubMed  Google Scholar 

  • Kaplan PW, Tusa RJ, Shankroff J, Heller J, Moser HW. Visual evoked potentials in adrenoleukodystrophy: a trial with glycerol trioleate and Lorenzo oil. Ann Neurol 1993; 34: 169–174

    Article  CAS  PubMed  Google Scholar 

  • Kemp S, Mooyer PAW, Bolhuis PA, van Geel BM, Mandel JL, Barth PG, Aubourg P, Wanders RJA. ALDP Expression in fibroblasts of patients with X-linked adrenoleukodystrophy. J Inherit Metab Dis 1996; 19: 667–674

    Article  CAS  PubMed  Google Scholar 

  • Kemp S, Wei H-M, Lu J-F, Braiterman LT, McGuinness MC, Moser AB, Watkins PA, Smith KD. Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy. Nat Med 1998; 4: 1261–1268

    Article  CAS  PubMed  Google Scholar 

  • Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJA, Moser HW. ABCD1 Mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat 2001; 18: 499–515

    Article  CAS  PubMed  Google Scholar 

  • Koike R, Tsuji S, Ohno T, Suzuki Y, Orii T, Miyatake T. Physiological significance of fatty acid elongation system in adrenoleukodystrophy. J Neurol Sci 1991; 103: 188–194

    Article  CAS  PubMed  Google Scholar 

  • Kok F, Neumann S, Sarde C-O, Zheng S, Wu K-H, Wei H-M, Bergin J, Watkins PA, Gould S, Sack G, Moser H, Mandel J-L, Smith KD. Mutational analysis of patients with X-linked adrenoleukodystrophy. Hum Mutat 1995; 6: 104–115

    Article  CAS  PubMed  Google Scholar 

  • Korenke GC, Christen H-J, Kruse B, Hunneman DH, Hanefeld F. Progression of X-linked adrenoleukodystrophy under interferon-β therapy. J Inherit Metab Dis 1997; 20: 59–66

    Article  CAS  PubMed  Google Scholar 

  • Kukowski B. Magnetic transcranial brain stimulation and multimodality evoked potentials in an adrenoleukodystrophy patient and members of his family. Electroencephalogr Clin Neurophysiol 1991; 78: 260–262

    CAS  PubMed  Google Scholar 

  • Kumar AJ, Rosenbaum AE, Naidu S, Wener L, Citrin CM, Lindenberg R, Kim WS, Zinreich SJ, Molliver ME, Mayberg HS, Moser HW. Adrenoleukodystrophy: correlating MR imaging with CT. Radiology 1987; 165: 497–504

    CAS  PubMed  Google Scholar 

  • Kumar AJ, Köhler W, Kruse B, Naidu S, Bergin A, Edwin D, Moser HW. MR findings in adult-onset adrenoleukodystrophy. AJNR Am J Neuroradiol 1995; 16: 1227–1237

    CAS  PubMed  Google Scholar 

  • Kurihara M, Kumagai K, Yagishita S, Imai M, Watanabe M, Suzuki Y, Orii T. Adrenoleukomyeloneuropathy presenting as cerebellar ataxia in a young child: a probable variant of adrenoleukodystrophy. Brain Dev 1993; 15: 377–380

    Article  CAS  PubMed  Google Scholar 

  • Kurihara M, Kumagai K, Noda Y, Yagishita S. An autopsy case of atypical adrenoleukomyeloneuropathy in childhood. Brain Dev 2000; 22: 394–397

    Article  CAS  PubMed  Google Scholar 

  • Kusaka H, Imai T. Ataxic variant of adrenoleukodystrophy: MRI and CT findings. J Neurol 1992; 239: 307–310

    Article  CAS  PubMed  Google Scholar 

  • Loes DJ, Hite S, Moser H, Stillman AE, Shapiro E, Lockman L, Latchaw RE, Krivit W. Adrenoleukodystrophy: a scoring method for brain MR observations. AJNR Am J Neuroradiol 1994; 15: 1761–1766

    CAS  PubMed  Google Scholar 

  • Loes DJ, Stillman AE, Hite S, Shapiro E, Lockman L, Latchaw RE, Moser H, Krivit W. Childhood cerebral form of adrenoleukodystrophy: short-term effect of bone marrow transplantation on brain MR observations. AJNR Am J Neuroradiol 1994; 15: 1767–1771

    CAS  PubMed  Google Scholar 

  • Loes DJ, Fatemi A, Melhem ER, Gupte N, Bezman L, Moser HW, Raymond GV. Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology 2003; 61: 369–374

    CAS  PubMed  Google Scholar 

  • Maier EM, Kammerer S, Muntau AC, Wichers M, Braun A, Roscher AA. Symptoms in carriers of adrenoleukodystrophy relate to skewed X Inactivation. Ann Neurol 2002; 52: 683–688

    Article  CAS  PubMed  Google Scholar 

  • Maris T, Androulidakis EJ, Tzagournissakis M, Papavassiliou S, Moser H, Plaitakis A. X-linked adrenoleukodystrophy presenting as neurologically pure familial spastic paraparesis. Neurology 1994; 45: 1101–1104

    Google Scholar 

  • Marsh WW, Hurst DL. Variable phenotypes in a family kindred with adrenoleukodystrophy. Pediatr Neurol 1991; 7: 50–52

    Article  CAS  PubMed  Google Scholar 

  • Martin JJ, Ceuterick C, Libert J. Skin and conjunctival nerve biopsies in adrenoleukodystrophy and its variants. Ann Neurol 1980; 8: 291–295

    Article  CAS  PubMed  Google Scholar 

  • McGuinness MC, Lu J-F, Zhang H-P, Dong G-X, Heinzer AK, Watkins PA, Powers J, Smith KD. Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy. Mol Cell Biol 2003; 23: 744–753

    Article  CAS  PubMed  Google Scholar 

  • Melhem ER, Breitner SN, Ulug AM, Raymond GV, Moser HW. Improved tissue characterization in adrenoleukodystrophy using magnetization transfer imaging. AJR Am J Roentgenol 1996; 166: 689–695

    CAS  PubMed  Google Scholar 

  • Melhem ER, Loes DJ, Georgiades CG, Raymond GV, Moser HW. X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression. AJNR Am J Neuroradiol 2000; 21: 839–844

    CAS  PubMed  Google Scholar 

  • Melhem ER, Gotwald TF, Itho R, Zinreich SJ, Moser HW. T2 relaxation measurements in X-linked adrenoleukodystrophy performed using dual-echo fast fluid-attenuated inversion recovery MR imaging. AJNR Am J Neuroradiol 2001; 22: 733–776

    Google Scholar 

  • Mo YH, Chen YF, Liu HM. Adrenomyeloneuropathy, a dynamic disorder: brain magnetic resonance imaging of two cases. Neuroradiology 2004; 46: 296–300

    PubMed  Google Scholar 

  • Molzer B, Bernheimer H, Budka H, Pilz P, Toifl K. Accumulation of very long chain fatty acids is common to 3 variants of adrenoleukodystrophy (ALD). J Neurol Sci 1981; 51: 301–310

    Article  CAS  PubMed  Google Scholar 

  • Moser H, Dubey P, Fatemi A. Progress in X-linked adrenoleukodystrophy. Curr Opin Neurol 2004; 17: 263–269

    Article  PubMed  Google Scholar 

  • Moser HW. Adrenoleukodystrophy: natural history treatment and outcome. J Inherit Metab Dis 1995; 18: 435–447

    Article  CAS  PubMed  Google Scholar 

  • Moser HW. Adrenoleukodystrophy. Curr Opin Neurol 1995; 8: 221–226

    CAS  PubMed  Google Scholar 

  • Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997; 120: 1485–1508

    Article  PubMed  Google Scholar 

  • Moser HW, Moser AB, Frayer KK, Chen W, Schulman JD, O’Neill BP, Kishimoto Y. Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. Neurology 1981; 31: 1241–1249

    CAS  PubMed  Google Scholar 

  • Moser HW, Moser AB, Naidu S, Bergin A. Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci 1991; 13: 254–261

    CAS  PubMed  Google Scholar 

  • Moser HW, Moser AB, Smith KD, Bergin A, Borel J, Shankroff J, Stine OC, Merette C, Ott J, Krivit W, Shapiro E. Adrenoleukodystrophy: Phenotypic variability and implications for therapy. J Inherit Metab Dis 1992; 15: 645–664

    CAS  PubMed  Google Scholar 

  • Moser HW, Loes DJ, Melhem ER, Raymond GV, Bezman L, Cox CS, Lu S-e. X-linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients. Neuropediatrics 2000; 31: 227–239

    Article  CAS  PubMed  Google Scholar 

  • Moser HW, Brezman L, Lu SE, Raymond GV. Therapy of X-linked adrenoleukodystrophy: prognosis based upon age and MRI abnormality and plans for placebo-controlled trails. J Inherit Metab Dis 2000; 23: 273–277

    Article  CAS  PubMed  Google Scholar 

  • Moser HW, Raymond GV, Koehler W, Sokolowski P, Hanefeld F, Korenke GC, Green A, Loes DJ, Hunneman DH, Jones RO, Lu SE, Uziel G, Giros ML, Roels F. Evaluation of the preventive effect of glyceryl trioleate-trierucate (“Lorenzo’s oil”) therapy in X-linked adrenoleukodystrophy: results of two concurrent trials. Adv Exp Med Biol 2003; 544: 369–387

    CAS  PubMed  Google Scholar 

  • Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, Poustka AM, Mandel JL, Aubourg P. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993; 361: 726–730

    Article  CAS  PubMed  Google Scholar 

  • Nishio H, Kodama S, Tsubota T, Takumi T, Takahashi T, Yokoyama S, Matsuo T. Adrenoleukodystrophy without adrenal insufficiency and its magnetic resonance imaging. J Neurol 1985; 232: 265–270

    Article  CAS  PubMed  Google Scholar 

  • Nowaczyk MJM, Saunders EF, Tein I, Blaser SI, Clarke JTR. Immunoablation does not delay the neurologic progression of X-linked adrenoleukodystrophy. J Pediatr 1997; 131: 453–455

    CAS  PubMed  Google Scholar 

  • O’Neill BP, Marmion LC, Feringa ER. The adrenoleukomyeloneuropathy complex: expression in four generations. Neurology 1981; 31: 151–156

    CAS  PubMed  Google Scholar 

  • O’Neill BP, Moser HW, Saxena KM. Familial X-linked Addison disease as an expression of adrenoleukodystrophy (ALD): elevated C26 fatty acid in cultured skin fibroblasts. Neurology 1982; 32: 543–547

    CAS  PubMed  Google Scholar 

  • O’Neill GN, Aoki M, Brown RH Jr. ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN. Neurology 2001; 57: 1956–1962

    CAS  PubMed  Google Scholar 

  • Pai GS, Khan M, Barbosa E, Key L, Craver JR, Curé JK, Betros R, Singh I. Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients. Mol Genet Metab 2000; 69: 312–322

    CAS  PubMed  Google Scholar 

  • Paintlia AS, Gilg AG, Khan M, Singh AK, 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: 425–439

    Article  CAS  PubMed  Google Scholar 

  • Pasco A, Kalifa G, Sarrazin JL, Adamsbaum C, Aubourg P. Contribution of MRI to the diagnosis of cerebral lesions of adrenoleukodystrophy. Pediatr Radiol 1991; 21: 161–163

    Article  CAS  PubMed  Google Scholar 

  • Philips JP, Lockman LA, Shapiro EG, Blazar BR, Loes DJ, Moser HW, Krivit W. CSF findings in adrenoleukodystrophy: correlation between measures of cytokines, IgG production, and disease severity. Pediatr Neurol 1994; 10: 289–294

    Google Scholar 

  • Poulos A, Gibson R, Sharp P, Beckman K, Grattan-Smith P. Very long chain fatty acids in X-linked adrenoleukodystrophy brain after treatment with Lorenzo’s oil. Ann Neurol 1994; 36: 741–746

    Article  CAS  PubMed  Google Scholar 

  • Powell H, Tindall R, Schultz P, Paa D, O’Brien J, Lampert P. Adrenoleukodystrophy. Electron microscopic findings. Arch Neurol 1975; 32: 250–260

    CAS  PubMed  Google Scholar 

  • Powers JM, Moser HG. Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis. Brain Pathol 1998; 8: 101–120

    CAS  PubMed  Google Scholar 

  • Powers JM, Schaumburg HH. Adreno-leukodystrophy (sexlinked Schilder’s disease). A pathogenetic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis. Am J Pathol 1974; 76: 481–491

    CAS  PubMed  Google Scholar 

  • 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: 630–643

    CAS  PubMed  Google Scholar 

  • Powers JM, DeCiero DP, Ito M, Moser AB, Moser HW. Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy. J Neuropathol Exp Neurol 2000; 59: 89–102

    CAS  PubMed  Google Scholar 

  • Powers JM, DeCiero DP, Cox C, Richfield EK, Ito M, Moser AB, Moser HW. The dorsal root ganglia in adrenomyeloneuropathy: neuronal atrophy and abnormal mitochondria. J Neuropathol Exp Neurol 2001; 60: 493–501

    CAS  PubMed  Google Scholar 

  • Rajanayagam V, Balthazor M, Shapiro EG, Krivit W, Lockman L, Stillman AE. Proton MR spectroscopy and neuropsychological testing in adrenoleukodystrophy. AJNR Am J Neuroradiol 1997; 18: 1909–1914

    CAS  PubMed  Google Scholar 

  • Ramsey RB, Banik NL, Scott T, Davison AN. Neurochemical findings in adreno-leukodystrophy. J Neurol Sci 1976; 29: 277–294

    Article  CAS  PubMed  Google Scholar 

  • Ravid S, Diamond AS, Eviatar L. Coma as an acute presentation of adrenoleukodystrophy. Pediatr Neurol 2000; 22: 237–239

    Article  CAS  PubMed  Google Scholar 

  • Restuccia D, Di Lazzaro V, Valeriani M, Oliviero A, Le Pera D, Colosimo C, Brudi N, Cappa M, Bertini E, Di Biase A, Tonali P. Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvement. Brain 1997; 120: 1139–1148

    Article  PubMed  Google Scholar 

  • Rizzo WB, Leshner RT, Odone A, Dammann AL, Craft BS, Jensen ME, Jennings SS, Davis S, Jaitly R, Sgro JA. Dietary erucic acid therapy for X-linked adrenoleukodystrophy. Neurology 1989; 39: 1415–1422

    CAS  PubMed  Google Scholar 

  • Ronghe MD, Barton J, Jardine PE, Crowne EC, Webster MH, Armitage M, Allen JT, Steward CG. The importance of testing for adrenoleukodystrophy in males with idiopathic Addison’s disease. Arch Dis Child 2002; 86: 185–189

    Article  CAS  PubMed  Google Scholar 

  • Samadja D, Cabre Ph, Kujas M, Vernant J-C, Rivierez M. Intracranial hypertension as an unusual presentation of adrenoleukodystrophy. Eur J Neurol 1997; 4: 413–415

    Google Scholar 

  • Schaumburg HH, Powers JM, Raine CS, Suzuki K, Richardson EP. Adrenoleukodystrophy: a clinical and pathological study of 17 cases. Arch Neurol 1975; 32: 577–591

    CAS  PubMed  Google Scholar 

  • Schaumburg HH, Powers JM, Raine CS, Spencer PS, Griffin JW, Prineas JW, Boehme DM. Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. General pathologic, neuropathologic, and biochemical aspects. Neurology 1977; 27: 1114–1119

    CAS  PubMed  Google Scholar 

  • Scholte W, Molzer B, Peiffer J, Poremba M, Schumm F, Harzer K, Schnabel R, Bernheimer H. Adrenoleukodystrophy in an adult female. A clinical, morphological and neurochemical study. J Neurol 1987; 235: 1–9

    Google Scholar 

  • Schmidt S, Träber F, Block W, Keller E, Pohl C, von Oertzen J, Schild H, Schlegel U, Klockgether T. Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy. J Neurol 2001; 248: 36–44

    Article  CAS  PubMed  Google Scholar 

  • Schneider JFL, Il’yasov KA, 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: 819–824

    PubMed  Google Scholar 

  • Schöder JM, Mayer M, Weis J. Mitochondrial abnormalities and intrafamilial variability of sural nerve biopsy findings in adrenomyeloneuropathy. Acta Neuropathol (Berl) 1996; 92: 64–69

    Google Scholar 

  • Shapiro E, Krivit W, Lockman L, Jambaqué, Peters C, Cowan M, Harris R, Blanche S, Bordigoni P, Loes D, Ziegler R, Crittenden M, Ris D, Berg B, Cox C, Moser H, Fisher A, Aubourg P. Longterm effect of bone-marrow transplantation for childhoodonset cerebral X-linked adrenoleukodystrophy. Lancet 2000; 356: 713–718

    Article  CAS  PubMed  Google Scholar 

  • Singh I, Khan M, Key L, Pai S. Lovastatin for x-linked adrenoleukodystrophy. N Engl J Med 1998; 339: 702–703

    CAS  PubMed  Google Scholar 

  • Smith KD, Kemp S, Braiterman LT, Lu J-F, Wei H-M, Geraghty M, Stetten G, Bergin JS, Pevsner J, Watkins PA. X-linked adrenoleukodystrophy: genes, mutations, and phenotypes. Neurochem Res 1999; 24: 521–535

    CAS  PubMed  Google Scholar 

  • Snyder RD, King JN, Keck GM, Orrison WW. MR imaging of the spinal cord in 23 subjects with ALD-AMN complex. AJNR Am J Neuroradiol 1991; 12: 1095–1098

    CAS  PubMed  Google Scholar 

  • Sobue G, Ueno-Natsukari IU, Okamoto H, Connell TA, Aizawa I, Mizoguchi K, Honma M, Ishakawa G, Mitusma T, Natsukari N. Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins. Ann Neurol 1994; 36: 912–915

    Article  CAS  PubMed  Google Scholar 

  • Steinberg SJ, Kemp S, Braiterman LT, Watkins PA. Role of verylong-chain-acyl-coenzyme A synthetase in X-linked adrenoleukodystrophy. Ann Neurol 1999; 46: 409–412

    Article  CAS  PubMed  Google Scholar 

  • Stephenson DJ, Bezman L, Raymond GV. Acute presentation of childhood adrenoleukodystrophy. Neuropediatrics 2000; 31: 293–297

    Article  CAS  PubMed  Google Scholar 

  • Tan E-K, Lim S-H, Chan L-L, Wong M-C, Tan K-P. X-linked adrenoleukodystrophy: spinocerebellar variant. Clin Neurol Neurosurg 1999; 101: 137–140

    CAS  PubMed  Google Scholar 

  • Tanaka K, Koyama A, Koike R, Ohno T, Atsumi T, Miyatake T. Adrenomyeloneuropathy: report of a family and electron microscopical findings in peripheral nerve. J Neurol 1985; 232: 73–78

    Article  CAS  PubMed  Google Scholar 

  • Terakawa H, Yanagihara T, Abe K. Unusual lateralization of adrenoleukodystrophy lesions on neuroimaging. J Neuroimaging 1997; 7: 121–123

    CAS  PubMed  Google Scholar 

  • Theda C, Moser AB, Powers JM, Moser HW. Phospholipids in X-linked adrenoleukodystrophy white matter: fatty acid abnormalities before the onset of demyelination. J Neurol Sci 1992; 110: 195–204

    Article  CAS  PubMed  Google Scholar 

  • Uchiyama M, Hata Y, Tada S. MR imaging of adrenoleukodystrophy. Neuroradiology 1991; 33: 25–29

    Article  CAS  PubMed  Google Scholar 

  • Uyama E, Iwagoe H, Maeda J, Nakamura M, Terasaki T, Ando M. Presenile-onset cerebral adrenoleukodystrophy presenting as Balint’s syndrome and dementia. Neurology 1993; 43: 1249–1251

    CAS  PubMed  Google Scholar 

  • Uziel G, Bertini E, Bardelli P, Rimoldi M, Gambetti M. Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci 1991; 13: 274–279

    CAS  PubMed  Google Scholar 

  • van der Knaap MS, Valk J. MR of adrenoleukodystrophy: histopathologic correlations. AJNR Am J Neuroradiol 1989; 10: S12–S14

    PubMed  Google Scholar 

  • van Geel BM, Assies J, Weverling GJ, Barth PG. Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands: a survey of 30 kindreds. Neurology 1994; 44: 2343–2346

    PubMed  Google Scholar 

  • van Geel BM, Assies J, Wanders RJA, Barth PG. X-linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. J Neurol Neurosurg Psychiatry 1997; 63: 4–14

    PubMed  Google Scholar 

  • van Geel BM, Assies J, Haverkort EB, Koelman JHTM, Verbeeten B Jr, Wanders RJA, Barth PG. Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with “Lorenzo’s oil.” J Neurol Neurosurg Psychiatry 1999; 67: 290–299

    PubMed  Google Scholar 

  • van Geel BM, Bezman L, Loes DJ, Moser HW, Raymond GV. Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy. Ann Neurol. 2001; 49: 186–194

    PubMed  Google Scholar 

  • Verrips A, Willemsen MAAP, Rubio-Gozalbo E, de Jong J, Smeitink JAM. Simvastatin and plasma very-long-chain fatty acids in X-linked adrenoleukodystrophy. Ann Neurol 2000; 47: 552–553

    Article  CAS  PubMed  Google Scholar 

  • Wanders RJA, van Roermund CWT, Lageweg W, Jakobs BS, Schutgens RBH, Nijenhuis AA, Tager JM. X-Linked adrenoleukodystrophy: biochemical diagnosis and enzyme defect. J Inherit Metab Dis 1992; 15: 634–644

    CAS  PubMed  Google Scholar 

  • Wanders RJA, Mooyer PW, Dekker C, Vreken P. X-Linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods. J Inherit Metab Dis 1998; 21: 285–287

    CAS  PubMed  Google Scholar 

  • Waragai M, Takaya Y, Hayashi M, Shibata N, Kobayashi M. MRI of adrenoleukodystrophy involving predominantly the cerebellum and brain stem. Neuroradiology 1996; 38: 788–791

    Article  CAS  PubMed  Google Scholar 

  • Watkins PA, Gould JS, Smith MA, Braiterman LT, Wei H-M, Kok F, Moser AB, Moser HW, Smith KD. Altered expression of ALDP in X-linked adrenoleukodystrophy. Am J Hum Genet 1995; 57: 292–301

    CAS  PubMed  Google Scholar 

  • Weinhofer I, Forss-Petter S, ZŽigman M, Berger J. Cholesterol regulates ABCD2 expression: implications for the therapy of X-linked adrenoleukodystrophy. Hum Mol Genet 2002; 11: 2701–2708

    Article  CAS  PubMed  Google Scholar 

  • Weller M, Liedtke W, Petersen D, Opitz H, Poremba M. Very-lateonset adrenoleukodystrophy: possible precipitation of demyelination by cerebral contusion. Neurology 1992; 42: 367–370

    CAS  PubMed  Google Scholar 

  • Wilken B, Dechent P, Brockmann K, Finsterbusch J, Baumann M, Ebell W, Korenke GC, Pouwels PJW, Hanefeld FA, Frahm J. Quantitative proton magnetic resonance spectroscopy of children with adrenoleukodystrophy before and after hematopoietic stem cell transplantation. Neuropediatric 2003; 34: 237–246

    CAS  Google Scholar 

  • Wilson R, Sargent JR. Lipid and fatty acid composition of brain tissue from adrenoleukodystrophy patients. J Neurochem 1993; 61: 290–297

    CAS  PubMed  Google Scholar 

  • Zammarchi EM, Donati MA, Tucci F, Fonda C, Fanelli F, Pazzaglia R. Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis. Brain Dev 1994; 16: 238–240

    Article  CAS  PubMed  Google Scholar 

  • Zhang LX, Baski R, Fine E, Moser HW. Clinical and electrophysiological improvement of adrenomyeloneuropathy with steroid treatment. J Neurol Neurosurg Psychiatry 2002; 74: 822–823

    Google Scholar 

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(2005). X-Linked Adrenoleukodystrophy. In: Magnetic Resonance of Myelination and Myelin Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-27660-2_21

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