Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy

Neurology

Volumn 64, Issue 2, 2005, Pages 304-310

  Dubey, P ^a   Fatemi, A ^a   Barker, P B ^a   Degaonkar, M ^a   Troeger, M ^a   Zackowski, K ^a   Bastian, A ^a   Smith, S A ^a   Pomper, M G ^a   Moser, H W ^a,b   Raymond, G V ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b DEPARTMENT OF PATHOLOGY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINE; CREATINE; N ACETYLASPARTIC ACID;

ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; AXONAL INJURY; BRAIN CORTEX; BRAIN METABOLISM; CAPSULA INTERNA; CLINICAL ARTICLE; CONTROLLED STUDY; DISABILITY; EXPANDED DISABILITY STATUS SCALE; HUMAN; MALE; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OCCIPITAL LOBE; PARIETAL LOBE; PRIORITY JOURNAL; TISSUE LEVEL; WHITE MATTER;

EID: 19944432371     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000149514.13580.84     Document Type: Article

References (45)

1. Moser HW SK, Watkins PA, Powers J, Moser AB. X-linked adrenoleukodystrophy. In: Scriver CR, Valle D, Sly WS, eds. The metabolic basis of inherited disease. 8th ed. New York: McGraw-Hill, 2001:3257-3302.
2. Mosser J, Douar AM, Sarde CO, et al. Putative X-linked ALD gene shares unexpected homology with ABC transporters. Nature 1993;361:726-730.
3. Smith KD, Kemp S, Braiterman LT, et al. X-linked adrenoleukodystrophy: genes, mutations, and phenotypes. Neurochem Res 1999;4:521-535.
4. Moser HW, Moser AB, Frayer KK, et al. Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. Neurology 1998;110:1241-1249.
5. 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;45:100-110.
6. Moser HW, Naidu S, Kumar AJ, Rosenbaum AE. The adrenoleukodystrophies. Crit Rev Neurobiol 1987;3:29-88.
7. Powers JM, DeCiero DP, Cox C, et al. The dorsal root ganglia in adrenomyeloneuropathy: neuronal atrophy and abnormal mitochondria. J Neuropathol Exp Neurol 2001;60:493-501.
8. Powers JM, DeCiero DP, Ito M, et al. Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy. J Neuropathol Exp Neurol 2000;59:89-102.
9. Powers JM, Moser HW. Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis. Brain Pathol 1998;8:101-120.
10. Powers JM. Adreno-leukodystrophy (adreno-testiculo-leukomyeloneuropathic complex). Clin Neuropathol 1985;4:181-199.
11. 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;31:227-239.
12. 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 GDI-mediated lipid antigen presentation. J Neuropathol Exp Neurol 2001;60:1004-1019.
13. Griffin DE, Moser HW, Mendoza Q, et al. Identification of the inflammatory cells in the central nervous system of patients with adrenoleukodystrophy. Ann Neurol 1985;18;660-664.
14. Berger J, Molzer B, Fae I, Bernheimer H. X-Linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Biochem Biophys Res Commun 1994;205:1638-1643.
15. Di Rocco M, Doria-Lamba L, Caruso U. Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes. Ann Neurol 2001;50:424-429.
16. Kemp S, Pujol A, Waterham HR, et al. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat 2001;18:499-515.
17. van Geel BM, Bezman L, Loes DJ, et al. Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy. Ann Neurol 2001;49:186-194.
18. Arnold DL, Wolinsky JS, Matthews PM, Falini A. The use of magnetic resonance spectroscopy in the evaluation of the natural history of multiple sclerosis. J Neurol Neurosurg Psychiatry 1998;64(suppl 1):S94-S101.
19. Kruse B, Barker PB, van Zijl PC, et al. Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy. Ann Neurol 1994;36:595-608.
20. Pouwels PJ, Kruse B, Korenke GC, et al. Quantitative proton magnetic resonance spectroscopy of childhood adrenoleukodystrophy. Neuropediatrics 1998;29:254-264.
21. Charles HC, Lazeyras F, Krishnan KR, et al. Proton spectroscopy of human brain: effects of age and sex. Prog Neuropsychopharmacol Biol Psychiatry 1994;18:995-1004.
22. Moser HW, Moser AB. Very long-chain fatty acids in diagnosis, pathogenesis, and therapy of peroxisomal disorders. Lipids 1996;31:141-144.
23. Kurtzke JF. Rating neurologic impairment in multiple sclerosis: an Expanded Disability Status Scale (EDSS). Neurology 1983;33:1444-1452.
24. Bohannon RW. Comfortable and maximum walking speed of adults aged 20-79 years: reference values and determinants. Age Ageing 1997;26:15-19.
25. Duyn JH, Gillen J, Sobering G, et al. Multisection proton MR spectroscopic imaging of the brain. Radiology 1993;188:277-282.
26. Soher BJ, van Zijl PC, Duyn JH, Barker PB. Quantitative proton MR spectroscopic imaging of the human brain. Magn Res Med 1996;35:356-363.
27. Urenjak J, Williams SR, Gadian DG, Noble M. Proton nuclear magnetic resonance spectroscopy unambiguously identifies different neural cell types. J Neurosci 1993;13:981-989.
28. 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;225:245-252.
29. Loes DJ, Fatemi A, Melhem ER, et al. Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology 2003;12:61:369-374.
30. Fatemi A, Barker PB, Ulug AM, et al. MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy. Neurology 2003;60:1301-1307.
31. De Stefano N, Narayanan S, Francis GS, et al. Evidence of axonal damage in the early stages of multiple sclerosis and its relevance to disability. Arch Neurol. 2001;58:65-70.
32. Mader I, Krageloh-Mann I, Seeger U, et al. Proton MR spectroscopy reveals lactate in infantile neuroaxonal dystrophy (INAD). Neuropediatrics 2001;32:97-100.
33. Barker PB. N-Acetyl aspartate - a neuronal marker? Ann Neurol 2001;49:423-424.
34. Bjartmar C, Battistuta J, Terada N, et al. N-Acetylaspartate is an axon-specific marker of mature white matter in vivo: a biochemical and immunohistochemical study on the rat optic nerve. Ann Neurol 2002;51:51-58.
35. Mainero C, De Stefano N, Iannucci G, et al. Correlates of MS disability assessed in vivo using aggregates of MR quantities. Neurology 2001;56:1331-1334.
36. van Waesberghe JH, Barkhof F. Magnetization transfer imaging of the spinal cord and the optic nerve in patients with multiple sclerosis. Neurology 1999;53(suppl 5):46-48.
37. Schmidt S, Traber F, Block W, et al. Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy. J Neurol 2001;248:36-44.
38. Edwin D, Speedie LJ, Kohler W, et al. Cognitive and brain magnetic resonance imaging findings in adrenomyeloneuropathy. Ann Neurol 1996;40:675-678.
39. Eichler FS, Barker PB, Cox C, et al. Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy. Neurology 2002;26:901-907.
40. De Stefano N, Narayanan S, Francis SJ, et al. Diffuse axonal and tissue injury in patients with multiple sclerosis with low cerebral lesion load and no disability. Arch Neurol 2002;59:1565-1571.
41. Trapp BD, Peterson J, Ransohoff RM, et al. Axonal transection in the lesions of multiple sclerosis. N Engl J Med 1998;338:278-285.
42. Shapiro E, Krivit W, Lockman L, et al. Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. Lancet 2000;356:713-718.
43. Barker BB, Soher BJ, Blackband SJ, et al. Quantification of proton NMR spectra of the human brain using tissue water as an internal concentration reference. NMR Biomed 1993;6:89-94.
44. Simon JH. Brain and spinal cord atrophy in multiple sclerosis: role as a surrogate measure of disease progression. CNS Drugs 2001;15:427-436.
45. Filippi M, Rocca MA, Comi G. The use of quantitative magnetic-resonance- based techniques to monitor the evolution of multiple sclerosis. Lancet Neurol 2003;2:337-346.