Can proton MRSI detect axonal dysfunction in women heterozygous for X-linked adrenoleukodystrophy who have normal MRI results?
Proton MRSI reveals axonal dysfunction in women heterozygous for X-ALD even when conventional MRI shows no brain involvement.
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.
Fatemi et al. (Tue,) studied this question.