Adrenoleukodystrophy: A Clinical and Pathological Study of 17 Cases
Abstract
Adrenoleukodystrophy was diagnosed pathologically in 17 male patients. The diagnosis was suggested by clinical and laboratory signs of primary adrenal failure and by neurological signs referable to the degeneration of white matter. Neurological findings usually predominated over clinical stigmata of adrenal failure. Adrenal biopsy has proved to be the most reliable diagnostic test, while brain biopsy has often been misleading. The histological picture of the brain lesion differs substantially from that of the adrenal, but the presence of similar ultrastructural cytoplasmic inclusions suggests a common metabolic disorder. Morphological analysis of the cerebral lesion indicates that the destruction may spread in a caudal-rostral direction. The intense inflammatory cell response occurs within the demyelinated areas, behing the area of active myelin breakdown, and appears to be a secondary feature of white matter degeneration.
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Electron microscopy reveals characteristic cytoplasmic inclusions (spicules) in oligodendrocytes, perivascular macrophages, and/or microglia but not in astrocytes.
“Electron microscopy reveals characteristic cytoplasmic inclusions (“spicules”) in OLs, perivascular macrophages, and/or microglia but not in astrocytes.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [17]
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- Authors
- Schaumburg, H. H.
- Corresponding author
- Schaumburg, Herbert H.
- Venue
- Archives of Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 1975-09-01
- Volume
- 32
- Issue
- 9
- Pages
- 577
- ISSN
- 0003-9942 (ISSN-L)
- OpenAlex
- W2005960977
- Cited by
- 475
- References
- 0
- Citations by year
- 2026: 5 · 2025: 2 · 2024: 8 · 2023: 2 · 2022: 3 · 2021: 6 · 2020: 3 · 2019: 7 · 2018: 5 · 2017: 6 · 2016: 10 · 2015: 2 · 2014: 6 · 2013: 6 · 2012: 7
- FWCI
- 6.12
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Archives of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- adrenoleukodystrophy, Addison's disease, white matter degeneration, demyelination, adrenal biopsy, brain biopsy, myelin breakdown, inflammatory cell response, disease progression, male patients
- MeSH terms
- Adrenal Cortex, Adrenal Gland Diseases, Brain, Brain Diseases, Brain Stem, Inclusion Bodies, Cerebral Cortex, Diffuse Cerebral Sclerosis of Schilder, Child, Child Behavior Disorders, Child, Preschool, Demyelinating Diseases, Gait, Gliosis, Hearing Disorders, Humans, Male, Spinal Cord, Sural Nerve, Testis, Vision Disorders, Lipid Metabolism
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