MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy

Neurology

Volumn 60, Issue 8, 2003, Pages 1301-1307

  Fatemi, A ^a   Barker, P B ^a,c   Ulug A M ^b   Nagae Poetscher, L M ^a   Beauchamp, N J ^a   Moser, A B ^a   Raymond, G V ^a   Moser, H W ^a   Naidu, S ^a  

^a DEPARTMENT OF PATHOLOGY   (United States)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINE; N ACETYLASPARTIC ACID;

ADOLESCENT; ADRENOLEUKODYSTROPHY; ADULT; AGED; ARTICLE; CAPSULA INTERNA; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; FEMALE; HUMAN; MAJOR CLINICAL STUDY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; PYRAMIDAL TRACT; SCHOOL CHILD; SPINAL CORD; WHITE MATTER; X CHROMOSOME LINKAGE;

EID: 0037461280     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000059546.15529.CB     Document Type: Article

References (46)

1. Moser HW SK, Watkins PA, Powers J, Moser AB. X-linked adrenoleukodystrophy. In: Scriver CR, Beaudet AL, Valle D, Sly WS, eds. The metabolic basis of inherited disease. 8 ed. New York, NY: McGraw-Hill, 2001;3257-3302.
2. Mosser J, Douar AM, Sarde CO, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993;361:726-730.
3. Mosser J, Lutz Y, Stoeckel ME, et al. The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. Hum Mol Genet 1994;3:265-271.
4. Bezman L, Moser AB, Raymond GV, et al. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 2001;49:512-517.
5. Sereni C, Paturneau-Jouas M, Aubourg P, Baumann N, Feingold J. Adrenoleukodystrophy in France. An epidemiological study. Neuroepidemiology 1993;12:229-233.
6. Aubourg P, Sellier N, Chaussain JL, Kalifa G. MRI detects cerebral involvement in neurologically asymptomatic patients with adrenoleukodystrophy. Neurology 1989;39:1619-1621.
7. Loes DJ, Hite S, Moser H, et al. Adrenoleukodystrophy: a scoring method for brain MR observations. AJNR Am J Neuroradiol 1994;15:1761-1766.
8. 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.
9. Eichler FS, Barker PB, Cox C, et al. Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy. Neurology 2002;58:901-907.
10. Pouwels PJ, Kruse B, Korenke GC, Mao X, Hanefeld FA, Frahm J. Quantitative proton magnetic resonance spectroscopy of childhood adrenoleukodystrophy. Neuropediatrics 1998;29:254-264.
11. Rajanayagam V, Grad J, Krivit W, et al. Proton MR spectroscopy of childhood adrenoleukodystrophy. AJNR Am J Neuroradiol 1996;17:1013-1024.
12. Moser HW, Moser AB, Naidu S, Bergin A. Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci 1991;13:254-261.
13. Kumar AJ, Kohler W, Kruse B, et al. MR findings in adult-onset adrenoleukodystrophy. AJNR Am J Neuroradiol 1995;16:1227-1237.
14. Liao D, Cooper L, Cai J, et al. The prevalence and severity of white matter lesions, their relationship with age, ethnicity, gender, and cardiovascular disease risk factors: the ARIC Study. Neuroepidemiology 1997;16:149-162.
15. Bryan RN, Cai J, Burke G, et al. Prevalence and anatomic characteristics of infarct-like lesions on MR images of middle-aged adults: the atherosclerosis risk in communities study. AJNR Am J Neuroradiol 1999;20:1273-1280.
16. Liao D, Cooper L, Cai J, et al. Presence and severity of cerebral white matter lesions and hypertension, its treatment, and its control. The ARIC Study Atherosclerosis Risk in Communities Study. Stroke 1996;27:2262-2270.
17. Wong TY, Klein R, Sharrett AR, et al. Cerebral white matter lesions, retinopathy, and incident clinical stroke. JAMA 2002;288:67-74.
18. Moser HW, Moser AE, Trojak JE, Supplee SW. Identification of female carriers of adrenoleukodystrophy. J Pediatr 1983;103:54-59.
19. Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. Mol Genet Metab 1999;66:128-136.
20. Kurtzke JF. Rating neurologic impairment in multiple sclerosis: an expanded disability status scale (EDSS). Neurology 1983;33:1444-1452.
21. el-Deiry SS, Naidu S, Blevins LS, Ladenson PW. Assessment of adrenal function in women heterozygous for adrenoleukodystrophy. J Clin Endocrinol Metab 1997;82:856-860.
22. Bryan RN, Manolio TA, Schertz LD, et al. A method for using MR to evaluate the effects of cardiovascular disease on the brain: the cardiovascular health study. AJNR Am J Neuroradiol 1994;15:1625-1633.
23. Duyn JH, Gillen J, Sobering G, van Zijl PC, Moonen CT. Multisection proton MR spectroscopic imaging of the brain. Radiology 1993;188:277-282.
24. Soher BJ, van Zijl PC, Duyn JH, Barker PB. Quantitative proton MR spectroscopic imaging of the human brain. Magn Reson Med 1996;35:356-363.
25. 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.
26. Schaumburg HH, Powers JM, Raine CS, et al. Adrenoleukodystrophy: a clinical, pathological and biochemical study. Adv Exp Med Biol 1976;68:379-387.
27. van Geel BM, Assies J, Wanders RJ, Barth PG. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. J Neurol Neurosurg Psychiatry 1997;63:4-14.
28. Menage P, Carreau V, Tourbah A, et al. [Symptomatic heterozygotic adrenoleukodystrophy in adults. 10 cases.] Rev Neurol 1993;149:445-454.
29. Restuccia D, Di Lazzaro V, Valeriani M, et al. Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvement. Brain 1997;120:1139-1148.
30. Schmidt S, Traber F, Block W, et al. Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy. J Neurol 2001;248:36-44.
31. Uchiyama M, Hata Y, Tada S. MR imaging of adrenoleukodystrophy. Neuroradiology 1991;33:25-29.
32. Powers JM, Moser HW, Moser AB, Ma CK, Elias SB, Norum RA. Pathologic findings in adrenoleukodystrophy heterozygotes. Arch Pathol Lab Med 1987;111:151-153.
33. Hershkovitz E, Narkis G, Shorer Z, et al. Cerebral X-linked adrenoleukodystrophy in a girl with a deletion of Xq27-Ter deletion. Ann Neurol 2002;52:234-237.
34. Naidu S, Washington C, Thirumala S, Watkins PA, Moser HW, Smith K. X-chromosome inactivation in symptomatic heterozygotes in X-linked adrenoleukodystrophy. Ann Neurol 1997;42:498.
35. Watkiss E, Webb T, Bundey S. Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy? J Med Genet 1993;30:651-654.
36. Kruse B, Barker PB, van Zijl PC, Duyn JH, Moonen CT, Moser HW. Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy. Ann Neurol 1994;36:595-608.
37. Arnold DL, De Stefano N, Narayanan S, Matthews PM. Proton MR spectroscopy in multiple sclerosis. Neuroimaging Clin N Am 2000;10:789-798.
38. De Stefano N, Narayanan S, Mortilla M, et al. Imaging axonal damage in multiple sclerosis by means of MR spectroscopy. Neurol Sci 2000;21:883-887.
39. 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.
40. Birken DL, Oldendorf WH. N-acetyl-L-aspartic acid: a literature review of a compound prominent in 1H-NMR spectroscopic studies of brain. Neurosci Biobehav Rev 1989;13:23-31.
41. Barker PB. N-acetyl aspartate-a neuronal marker? Ann Neurol 2001;49:423-424.
42. Eichler FS, Itoh R, Barker P, et al. Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy. Radiology 2002;225:245-252.
43. 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.
44. 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.
45. Bhakoo KK, Pearce D. In vitro expression of N-acetyl aspartate by oligodendrocytes: implications for proton magnetic resonance spectroscopy signal in vivo. J Neurochem 2000;74:254-262.
46. Rogers LSN, Weiner MW. Gender effects on NAA in brain gray and white matter received by mixed effects statistical analysis. Proc Intl Soc Magn Reson Med 2002;10:229.