Very‐late‐onset adrenoleukodystrophy: Possible precipitation of demyelination by cerebral contusion
Abstract
We report the clinical history, neuroradiology, and autopsy findings in a patient with very late onset, at age 57, of adrenoleukodystrophy (ALD) presenting with dementia, hemianopia, and gait apraxia. Open brain biopsy, elevated plasma very-long-chain fatty acids, and autopsy confirmed the diagnosis of ALD. Demyelinative lesions were most extensive at the site of a recent cerebral contusion. CNS trauma may have precipitated or accelerated demyelination in this patient carrying the ALD gene.
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Anecdotal cases of head trauma precipitating cALD with inflammatory demyelination beginning at the contusion site have been reported.
“Anecdotical cases of head trauma precipitating cALD have been reported with inflammatory demyelination beginning at the site of the contusion [43,44,45,46].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [44]
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Adrenoleukodystrophy—Neuroendocrine pathogenesis and redefinition of natural history
Kemp, S., Huffnagel, I. C., Linthorst, G. E., Wanders, R. J., & Engelen, M. (2016) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2016.90 · Cited by 275 · see citing works
Pathophysiology of X-linked adrenoleukodystrophy
Berger, J., Forss-Petter, S., & Eichler, F. S. (2014) · Biochimie · doi:10.1016/j.biochi.2013.11.023 · Cited by 238 · see citing works
Brain endothelial dysfunction in cerebral adrenoleukodystrophy
Musolino, P. L., Gong, Y., Snyder, J. M. T., Jimenez, S., Lok, J., Lo, E. H., Moser, A. B., Grabowski, E. F., Frosch, M. P., & Eichler, F. S. (2015) · Brain · doi:10.1093/brain/awv250 · Cited by 92 · see citing works
Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins
Sobue, G., Ueno‐Natsukari, I., Okamoto, H., Connell, T. A., Aizawa, I., Mizoguchi, K., Honma, M., Ishikawa, G., Mitsuma, T., & Natsukari, N. (1994) · Annals of Neurology · doi:10.1002/ana.410360617 · Cited by 56 · see citing works
Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11 · see citing works
- Authors
- Weller, M., Liedtke, W., Petersen, D., Opitz, H., & Poremba, M.
- Affiliations
- University of Tübingen (DE)
- Venue
- Neurology
- Published
- 1992-02
- Volume
- 42
- Issue
- 2
- Pages
- 367-367
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2145708692
- Cited by
- 33
- References
- 0
- Citations by year
- 2025: 1 · 2021: 2 · 2020: 1 · 2019: 1 · 2018: 1 · 2016: 2 · 2015: 1 · 2013: 1 · 2012: 2
- FWCI
- 1.36
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- adrenoleukodystrophy, demyelination, cerebral contusion, CNS trauma, very long chain fatty acids, dementia, hemianopia, gait apraxia, autopsy findings, neuroradiology, brain biopsy
- MeSH terms
- Adrenoleukodystrophy, Age Factors, Brain Concussion, Demyelinating Diseases, Fatty Acids, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Tomography, X-Ray Computed
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