PRESIDENTIAL ADDRESS: The Pathology of Peroxisomal Disorders with Pathogenetic Considerations
Abstract
Peroxisomal disorders are rare systemic maladies in which specific major organ systems are typically involved: most importantly the central nervous system (CNS), but also the peripheral nervous system, eyes, liver, adrenal, kidney and skeleton. Zellweger syndrome (ZS) is the most severe of the generalized types and exhibits major neocortical migration defects, less severe and non-inflammatory white matter lesions, and dysmorphic features. In adrenoleukodystrophy (ALD) the major lesion again is in the CNS, but consists of extensive dysmyelination/inflammatory demyelination without neuronal migration defects or dysmorphism. In adrenomyeloneuropathy long tract degeneration of spinal cord, peripheral neuropathy, and variable CNS dysmyelinative to inflammatory demyelinative lesions are the dominant nervous system lesions. Saturated very long chain fatty acids, either free in the cytoplasm of affected endocrine cells or as components of membrane lipids (e.g. gangliosides, glycerophospholipids, and proteolipid protein) in axons or myelin, may be central to the pathogenesis of these neuronal migration defects, dysmyelination/inflammatory demyelination and spinal tract degeneration. Cytokines, particularly tumor necrosis factor-alpha, and delayed cellular hypersensitivity appear to be major secondary pathogenic factors in ALD.
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Within their first year of life, all patients with Zellweger syndrome display white matter abnormalities in the CNS, observed by histological analyses and brain magnetic resonance tomography.
“In addition to these migration defects, within their first year of life, all patients with Zellweger syndrome display white matter abnormalities in the CNS, which have been observed by histological analyses and brain magnetic resonance tomography (MRT) studies [52–55].”
From Peroxisomes in brain development and function (2016) · cites this paper as [52]
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Peroxisomal Disorders: Genotype, Phenotype, Major Neuropathologic Lesions, and Pathogenesis
Powers, J. M., & Moser, H. W. (1998) · Brain Pathology · doi:10.1111/j.1750-3639.1998.tb00139.x · Cited by 208 · see citing works
Self-citationAdrenomyeloneuropathy: 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
Self-citationPeroxisomes in brain development and function
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“levels of phytanic acid contribute to the pathogenesis in the cerebellum [52,202].”
BackgroundIto, M., Blumberg, B. M., Mock, D. J., Goodman, A. D., Moser, A. B., Moser, H. W., Smith, K. D., & Powers, J. M. (2001) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/60.10.1004 · Cited by 125 · see citing works
Self-citationPlasmalogens participate in very-long-chain fatty acid-induced pathology
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Gilg, A. G., Singh, A. K., & Singh, I. (2000) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/59.12.1063 · Cited by 66 · see citing works
Peroxisomes, myelination, and axonal integrity in the CNS
Baes, M., & Aubourg, P. (2009) · The Neuroscientist · doi:10.1177/1073858409336297 · Cited by 65 · see citing works
Verheijden, S., Bottelbergs, A., Krysko, O., Krysko, D. V., Beckers, L., De Munter, S., Van Veldhoven, P. P., Wyns, S., Kulik, W., Nave, K.-A., et al. (2013) · Neurobiology of Disease · doi:10.1016/j.nbd.2013.06.006 · Cited by 54 · see citing works
- Authors
- Powers, J. M.
- Affiliations
- University of Rochester Medicine (US)
- Corresponding author
- Powers, James M.
- ORCID
- Powers, James M.
- Venue
- Journal of Neuropathology and Experimental Neurology
- Publisher
- Oxford University Press (OUP)
- Published
- 1995-09
- Volume
- 54
- Issue
- 5
- Pages
- 710-719
- ISSN
- 0022-3069 (ISSN-L)
- OpenAlex
- W4318471337
- Cited by
- 67
- References
- 0
- Citations by year
- 2025: 1 · 2023: 1 · 2022: 1 · 2021: 2 · 2017: 4 · 2016: 1 · 2015: 2 · 2014: 1 · 2013: 3 · 2012: 3
- FWCI
- 2.41
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Neuropathology & Experimental Neurology (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
- peroxisomal disorders, Zellweger syndrome, adrenoleukodystrophy, adrenomyeloneuropathy, dysmyelination, demyelination, neuronal migration defects, very long chain fatty acids, saturated fatty acids, gangliosides, proteolipid protein, TNF-α, cytokines, pathogenesis, white matter lesions
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