Adreno-leukodystrophy (Sex-Linked Schilder Disease): Ultrastructural Demonstration of Specific Cytoplasmic Inclusions in the Central Nervous System
Abstract
An ultrastructural study of the central nervous system of four male patients with adreno-leukodystrophy has been performed. Membrane-like cytoplasmic inclusions similar to those described in adrenal cortex, testis, and peripheral nerve were present in macrophages. These changes in widely scattered organs are probably the structural representation of a generalized metabolic disorder and are consistent with our previous hypothesis of a membrane-stability defect in these organs.
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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 [74]
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- Authors
- Schaumburg, H. H.
- Corresponding author
- Schaumburg, Herbert H.
- Venue
- Archives of Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 1974-09-01
- Volume
- 31
- Issue
- 3
- Pages
- 210
- ISSN
- 0003-9942 (ISSN-L)
- OpenAlex
- W2081925327
- Cited by
- 89
- References
- 0
- Citations by year
- 2025: 3 · 2024: 6 · 2023: 2 · 2021: 2 · 2020: 3 · 2019: 2 · 2018: 2 · 2015: 1 · 2014: 1 · 2013: 1
- FWCI
- 5.54
- 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 › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- macrophages, adrenal cortex, testis, peripheral nerves
- MeSH terms
- Adrenal Gland Diseases, Atrophy, Autopsy, Cell Membrane, Cell Nucleus, Inclusion Bodies, Central Nervous System, Diffuse Cerebral Sclerosis of Schilder, Demyelinating Diseases, Gliosis, Humans, Macrophages, Microscopy, Electron, Occipital Lobe, Parietal Lobe
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