ReviewBrain pathology (Zurich, Switzerland)1998
Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis.
Review in Brain pathology (Zurich, Switzerland), 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
58 citing papers in PubMed, 206 citations in OpenAlex.
- Peroxisome-dependent and -independent functions of PEX19 in mouse embryonic stem cells.iScience · 2026Article
- Review
- Peroxisomes as emerging clinical targets in neuroinflammatory diseases.Frontiers in molecular neuroscience · 2025Review
- Vesicular trafficking and cell-cell communication in neurodevelopment and neurodegeneration.Frontiers in cell and developmental biology · 2025Review
- Potential biomarkers in hypoglycemic brain injury.Forensic science, medicine, and pathology · 2024Article
- Transcriptomic and proteomic profiling of the anterior cingulate cortex in neuropathic pain model rats.Frontiers in molecular neuroscience · 2023Article
- AFrontiers in cell and developmental biology · 2022Article
- Lipid alterations in human frontal cortex in ALS-FTLD-TDP43 proteinopathy spectrum are partly related to peroxisome impairment.Neuropathology and applied neurobiology · 2021Article
- Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1.JIMD reports · 2020Article
- Disturbed neurotransmitter homeostasis in ether lipid deficiency.Human molecular genetics · 2019Article
- Article
- Peroxisome biogenesis deficiency attenuates the BDNF-TrkB pathway-mediated development of the cerebellum.Life science alliance · 2018Article
- Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla.The neuroradiology journal · 2017Article
- MicroRNA Profiling Identifies miR-196a as Differentially Expressed in Childhood Adrenoleukodystrophy and Adult Adrenomyeloneuropathy.Molecular neurobiology · 2017Article
- Familial risk for bipolar disorder is not associated with impaired peroxisomal function: Dissociation from docosahexaenoic acid deficits.Psychiatry research · 2016Article
- Peroxisome biogenesis disorders.Translational science of rare diseases · 2016Article
- Spectrum of PEX1 and PEX6 variants in Heimler syndrome.European journal of human genetics : EJHG · 2016Article
- Tissue Specificity of Human Disease Module.Scientific reports · 2016Article
- Inherited and acquired disorders of myelin: The underlying myelin pathology.Experimental neurology · 2016Review
- Peroxisomes in brain development and function.Biochimica et biophysica acta · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurological dysfunction is a prominent feature of most peroxisomal disorders. Enormous progress in defining their gene defects has been achieved. The genes and gene products, peroxins (PEX), in five of the complementation groups have been defined. These studies confirm that Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD) are a disease continuum. The gene defect in adreno-leukodystrophy (ALD) / adrenomyeloneuropathy (AMN) involves an integral peroxisomal membrane protein. Neuropathologic lesions are of three major classes: (i) abnormalities in neuronal migration or differentiation, (ii) defects in the formation or maintenance of central white matter, and (iii) postdevelopmental neuronal degenerations. The central white matter lesions are those of: (i) inflammatory demyelination, (ii) non-inflammatory dysmyelination, and (iii) non-specific reductions in myelin volume or staining with or without reactive astrocytosis. The neuronal degenerations are of two major types: (i) the axonopathy of AMN involving ascending and descending tracts of the spinal cord, and (ii) cerebellar atrophy in rhizomelic chondrodysplasia punctata and probably IRD. We postulate that the abnormal fatty acids in peroxisomal disorders, particularly very long chain fatty acids and phytanic acid, are incorporated into cell membranes and perturb their microenvironments resulting in dysfunction, atrophy and death of vulnerable cells. The advent of mouse models for ZS and ALD is anticipated to provide even greater pathogenetic insights into the peroxisomal disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.