Adrenomyeloneuropathy and adrenoleukodystrophy in two brothers
Abstract
A 19-year-old patient presented with spastic paraparesis and peripheral neuropathy without clinical or biochemical signs of adrenal insufficiency. The diagnosis of adrenomyeloneuropathy was supported by typical ultrastructural findings in peripheral nerve and endomysial nerve bundles and by a positive family history. Indeed his younger brother died at age 12 from a demyelinating disease of the central nervous system. Cutaneous nerve bundles and postmortem examination limited to the brain demonstrated features specific for adrenoleukodystrophy. The various features of both disorders are discussed. Their occurrence in the same sibship pleads strongly for a very close relationship.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Peripheral nerves in AMN show variable and mild lesions of chronic axonal atrophy with secondary demyelination.
“The few studies on peripheral nerves in AMN [16,18,20,82,84,85,86] highlight variable and mild lesions of chronic axonal atrophy with secondary demyelination [49].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [84]
Cited by
Sorted by citations
Adrenomyeloneuropathy: A Neuropathologic Review Featuring Its Noninflammatory Myelopathy
Powers, J. M., DeCiero, D. P., Ito, M., Moser, A. B., & Moser, H. W. (2000) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/59.2.89 · Cited by 204 · see citing works
Lee, C. A. A., Seo, H. S., Armien, A. G., Bates, F. S., Tolar, J., & Azarin, S. M. (2018) · Fluids and Barriers of the CNS · doi:10.1186/s12987-018-0094-5 · Cited by 52 · see citing works
Adrenomyeloneuropathy: A report on two families
Martin, J. J., Lowenthal, A., Ceuterick, C., & Gacoms, H. (1982) · Journal of Neurology · doi:10.1007/bf00313395 · Cited by 27 · see citing works
Self-citationRevisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11 · see citing works
- Authors
- Martin, J. J., Dompas, B., Ceuterick, C., & Jacobs, K.
- Venue
- European Neurology
- Publisher
- S. Karger AG
- Published
- 2008-01-29
- Volume
- 19
- Issue
- 5
- Pages
- 281-287
- ISSN
- 0014-3022 (ISSN-L)
- 1421-9913
- OpenAlex
- W2046708072
- Cited by
- 25
- References
- 0
- Citations by year
- 2025: 2 · 2024: 1 · 2022: 1 · 2021: 1 · 2018: 1
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- European Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Neurology › Peripheral Neuropathies and Disorders
- Keywords
- adrenomyeloneuropathy, adrenoleukodystrophy, spastic paraparesis, peripheral neuropathy, demyelinating disease, adrenal insufficiency, ultrastructural findings, family history (medicine), sibships
- MeSH terms
- Adrenal Insufficiency, Adult, Brain, Brain Diseases, Child, Humans, Male, Muscles, Paraplegia, Peripheral Nervous System Diseases, Peripheral Nerves, Schwann Cells, Skin
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
