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, PhD
From the Kennedy Krieger Institute (Drs. Fatemi, Barker, H.W. Moser, Raymond, Naidu, A.B. Moser and Nagae-Poetscher) and Department of Radiology and Radiological Science (Drs. Barker, Nagae-Poetscher, and Beauchamp), Johns Hopkins Medical Institutions, Baltimore, MD; and Department of Radiology (Dr. Ulu), Weill Medical College of Cornell University–NY Presbyterian Hospital.
Address correspondence and reprint requests to Dr. Peter B. Barker, Professor of Radiology, Department of Radiology and Radiological Science, Johns Hopkins School of Medicine, 600 N Wolfe St., MRI 143C, Baltimore, MD 21287; e-mail: barker{at}mri.jhu.edu
Objective: To utilize neuroimaging procedures to assess the extent of cerebral involvement in female subjects heterozygous for X-linked adrenoleukodystrophy (X-ALD).
Methods: Brain MRI studies were performed in 76 female subjects heterozygous for X-ALD (mean age 43 years, range 8 to 75 years). Sixty-five had clinical evidence of spinal cord involvement resembling that in males with adrenomyeloneuropathy (AMN), two had clinical evidence of cerebral involvement, and nine showed no neurologic abnormality. Readers blinded to clinical findings further analyzed abnormal MRI studies. In eight women whose MRI results were normal, four-slice long echo time MRS imaging (MRSI) studies were performed and compared to those of eight age-matched controls.
Results: MRI results were normal in 65 subjects and abnormal in 11. In eight of the latter group, the MRI changes were judged to be due to causes other than X-ALD. Lesions were attributed to X-ALD in the remaining three. Two of these patients had lesions that resembled those in male patients with cerebral X-ALD. In one patient with a mild AMN-like syndrome, brain MRI abnormalities were confined to the corticospinal tract. When compared to those of controls, MRSI studies in eight female patients with normal results on brain MRI showed a significant reduction of N-acetylaspartate/creatine and N-acetylaspartate/choline ratios in the internal capsule and corticospinal projection fibers. The N-acetylaspartate/choline ratio was significantly reduced in the parieto-occipital white matter and the choline/creatine ratio was significantly increased in the frontal white matter.
Conclusion: Brain involvement demonstrable by MRI is rare in female subjects heterozygous for X-ALD, including those who have clinical evidence of spinal cord involvement. Nevertheless, N-acetylaspartate levels are reduced in the corticospinal projection fibers in female subjects with normal results on MRI, suggesting axonal dysfunction.
This article has been cited by other articles:
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  C. S. Cox, P. Dubey, G. V. Raymond, A. Mahmood, A. B. Moser, and H. W. Moser Cognitive Evaluation of Neurologically Asymptomatic Boys With X-linked Adrenoleukodystrophy Arch Neurol, January 1, 2006; 63(1): 69 - 73. [Abstract] [Full Text] [PDF]
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 H. W. Moser, G. V. Raymond, and P. Dubey Adrenoleukodystrophy: New Approaches to a Neurodegenerative Disease JAMA, December 28, 2005; 294(24): 3131 - 3134. [Abstract] [Full Text] [PDF]
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 A. Fatemi, S. A. Smith, P. Dubey, K. M. Zackowski, A. J. Bastian, P. C. van Zijl, H. W. Moser, G. V. Raymond, and X. Golay Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy Neurology, May 24, 2005; 64(10): 1739 - 1745. [Abstract] [Full Text] [PDF]
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P. Dubey, A. Fatemi, P. B. Barker, M. Degaonkar, M. Troeger, K. Zackowski, A. Bastian, S. A. Smith, M. G. Pomper, H. W. Moser, et al. Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathy Neurology, January 25, 2005; 64(2): 304 - 310. [Abstract] [Full Text] [PDF]
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