Diffusion tensor–based imaging reveals occult abnormalities in adrenomyeloneuropathy
Abstract
"Pure" adrenomyeloneuropathy (AMN) is the noninflammatory myeloneuropathic variant of X-linked adrenoleukodystrophy, where the disease process appears to be restricted to spinal cord tracts and peripheral nerves. The absence of obvious brain involvement makes it distinct from the inflammatory cerebral phenotypes of X-linked adrenoleukodystrophy. However, some pure AMN patients later experience development of cerebral demyelination, but little is known about the extent of brain involvement in pure AMN patients who have normal brain magnetic resonance imaging. We used diffusion tensor imaging to investigate possible occult cerebral abnormalities in such pure AMN patients. Fractional anisotropy and trace were studied in three-dimensional reconstructions of white matter tracts commonly involved in cerebral phenotypes of X-linked adrenoleukodystrophy. Results demonstrated reduced fractional anisotropy and increased trace in bilateral corticospinal tracts and genu of corpus callosum (p < 0.05). Diffusion tensor imaging-based three-dimensional fiber tracking showed occult tract-specific cerebral microstructural abnormalities in pure AMN patients who had a normal conventional brain magnetic resonance image. Corticospinal tract abnormalities could reflect a centripetal extension of spinal cord long-tract distal axonopathy. Accompanying abnormalities in genu of corpus callosum indicate that the disease pathology in pure AMN may not be limited to spinal cord long tracts alone, although the involvement of the latter is most prominent and severe.
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At diagnosis, 80% of boys or adolescents with cALD and 70% of AMN patients have hormonal evidence of clinically silent adrenal insufficiency.
“At diagnosis, 80% of boys or adolescents with cALD and 70% of AMN patients have hormonal evidence of clinically silent adrenal insufficiency [65,66,67,68,69].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [65]
Magnetization transfer or diffusion tensor-based imaging sequences can detect abnormalities in spinal cord tracts in X-ALD.
“Magnetization transfer or diffusion tensor-based imaging sequences can detect abnormalities in spinal cord tracts [65,97,98].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [65]
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- Authors
- Dubey, P., Fatemi, A., Huang, H., Nagae‐Poetscher, L., Wakana, S., Barker, P. B., van Zijl, P., Moser, H. W., Mori, S., & Raymond, G. V.
- Affiliations
- Kennedy Krieger Institute (US)
- Johns Hopkins University (US)
- Corresponding author
- Raymond, Gerald V.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2005-10-20
- Volume
- 58
- Issue
- 5
- Pages
- 758-766
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2151128436
- Cited by
- 40
- References
- 36
- Citations by year
- 2026: 1 · 2025: 2 · 2023: 3 · 2022: 1 · 2021: 2 · 2019: 3 · 2017: 2 · 2016: 2 · 2015: 1 · 2014: 2 · 2013: 2 · 2012: 5
- FWCI
- 2.81
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R21NS045716)
- National Institute of Biomedical Imaging and Bioengineering (R21EB000991, P41EB015909, EB00991)
- National Center for Research Resources (M01 RR-00052, RR-15241, P41RR015241, M01RR000052)
- Topics
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Advanced Neuroimaging Techniques and Applications
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- adrenomyeloneuropathy, X-linked adrenoleukodystrophy, brain demyelination, corticospinal tract, corpus callosum genu, fractional anisotropy, diffusion tensor imaging, tractography
- MeSH terms
- Adrenoleukodystrophy, Adult, Brain Mapping, Corpus Callosum, Cross-Sectional Studies, Disability Evaluation, Humans, Functional Laterality, Male, Neurologic Examination, Pyramidal Tracts, Case-Control Studies, Anisotropy, Imaging, Three-Dimensional, Diffusion Magnetic Resonance Imaging
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