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Background: Adrenomyeloneuropathy (AMN) is the adult variant of X-linked adre noleukodystrophy. The disease pathology is usually limited to spinal cord and pe ripheral nerves, and when this is the case, it is referred to as “pure“ AMN. Hi stopathology shows cerebral involvement even in pure AMN; however, not much is k nown about the nature, extent, and clinical relevance of these findings. Objecti ve: To investigate brain involvement in AMN patients with normal MRI, employing multislice MR spectroscopic imaging. Methods: Twelve men with pure AMN were comp ared with 19 age-matched healthy volunteers.Metabolite ratios (N-acetylasparta te [NAA]/choline [Cho],NAA/creatine [Cr], and Cho/Cr) were measured from seven b rain regions. Global metabolite ratios were generated as an average of these sev en regional ratios. The Expanded Disability Status Scale (EDSS) was used for neu rologic evaluation. Results: The patients with AMN showed reduced global NAA/Cho (AMN 1.40 ±0.16 vs controls 1.75 ±0.34; p = 0.003) and global NAA/Cr (AMN 2.3 2 ±0.13 vs controls 2.62 ±0.43; p = 0.03). Regionally, NAA/Cho was lowered in the internal capsule(AMN 1.30 ±0.20 vs controls 1.69 ±0.37; p = 0.002) and inp arieto-occipital white matter (AMN 1.45 ±0.19 vs controls 1.78 ±0.55; p = 0.0 4). NAA/Cr was lowered in parieto-occipital white matter (AMN 2.34 ±0.31 vs co ntrols 2.83 ±0.71; p= 0.04). EDSS demonstrated an inverse association with glob al NAA/Cr (r = -0.65, p = 0.02) and NAA/Cr in centrum semiovale(r = -0.73, p = 0.006) and in parieto-occipital white matter (r= -0.64, p = 0.02). Cho/Cr was not significantly elevated.Conclusions: 1H-MR spectroscopic imaging is able to detect biochemical abnormalities sugge stive of axonal damage even in the brains of patients with pure adrenomyeloneuro pathy. The axonopathy is most prominent in internal capsule and parietooccipital white matter and may contribute to clinical disability.
Background: Adrenomyeloneuropathy (AMN) is the adult variant of X-linked adre noleukodystrophy. The disease pathology is usually limited to spinal cord and pe ripheral nerves, and when this is the case, it is referred to as ”pure" AMN. Hi stopathology shows cerebral involvement even in pure AMN; however, not much is k nown about the nature, extent, and clinical relevance of these findings. Objecti ve: To investigate brain involvement in AMN patients with normal MRI, employing multislice MR spectroscopic imaging. Methods : Twelve men with pure AMN were comp wered with 19 age-matched healthy volunteers. Metabolite ratios (N-acetylasparta te [NAA] / choline [Cho], NAA / creatine [Cr], and Cho / Cr) The Expanded Disability Status Scale (EDSS) was used for neu rologic evaluation. Results: The patients with AMN showed reduced global NAA / Cho (AMN 1.40 ± 0.16 vs controls 1.7 5 ± 0.34; p = 0.003) and global NAA / Cr (AMN 2.3 2 ± 0.13 vs controls 2.62 ± 0.43; p = 0.03). Regionally, NAA / Cho was lower in the internal capsule (AMN 1.30 ± 0.20 vs controls 1.69 ± 0.37; p = 0.002) and inp arieto-occipital white matter (AMN 1.45 ± 0.19 vs. controls 1.78 ± 0.55; p = 0.0 4). NAA / Cr was lower in parieto-occipital white matter (AMN 2.34 ± 0.31 vs co ntrols 2.83 ± 0.71; p = 0.04). EDSS demonstrated an inverse association with glob alNAA / Cr (r = -0.65, p = 0.02) and NAA / Cr in centrum semiovale (r = -0.73, p = 0.006) and in parieto- Cho / Cr was not significantly elevated. Conclusions: 1H-MR spectroscopic imaging is able to detect biochemical abnormalities sugge stive of axonal damage even in the brains of patients with pure adrenomyelone pathy The axonopathy is most prominent in internal capsule and parietooccipital white matter and may contribute to clinical disability.