ArticleJournal of inherited metabolic disease2008
Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients.
Article in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 57 citations in OpenAlex.
- Peroxisome and pexophagy in neurological diseases.Fundamental research · 2024Review
- Identification of a novel heterozygous variant in theTranslational pediatrics · 2024Article
- Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort.Brain communications · 2023Article
- Peroxisomes of the Brain: Distribution, Functions, and Associated Diseases.Neurotoxicity research · 2021Review
- De novo ATP1A3 variants cause polymicrogyria.Science advances · 2021Article
- Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.Journal of applied genetics · 2020Article
- Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients.Journal of inherited metabolic disease · 2016Article
- Peroxisomes in brain development and function.Biochimica et biophysica acta · 2016Review
- Neurometabolic Diagnosis in Children who referred as Neurodevelopmental Delay (A Practical Criteria, in Iranian Pediatric Patients).Iranian journal of child neurology · 2016Article
- In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.Neurochemical research · 2015Review
- Peroxisomal Disorders: A Review on Cerebellar Pathologies.Brain pathology (Zurich, Switzerland) · 2015Review
- Neurometabolic diseases of childhood.Pediatric radiology · 2015Review
- Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.Stem cell research & therapy · 2015Article
- Pristanic acid provokes lipid, protein, and DNA oxidative damage and reduces the antioxidant defenses in cerebellum of young rats.Cerebellum (London, England) · 2014Article
- Neonatal neuroimaging findings in inborn errors of metabolism.Journal of magnetic resonance imaging : JMRI · 2013Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with defects in the biogenesis of peroxisomes include those with Zellweger syndrome spectrum (ZSS), a developmental and progressive metabolic disease with a distinct dysmorphic phenotype and varying severity. The diagnosis of ZSS relies on the clinical presentation and the biochemical evaluation of peroxisomal metabolites. Mutation detection in one out of twelve genes coding for proteins involved in the biogenesis of peroxisomes confirms the diagnosis. In the absence of pronounced clinical features of ZSS, neuroradiological findings may lead the way to the diagnosis. Cerebral magnetic resonance imaging (cMRI) pathology in ZSS consists of abnormal gyration pattern including polymicrogyria and pachygyria, leukencephalopathy, germinolytic cysts and heterotopias as reported by previous systematic studies including cMRI of a total of 34 ZSS patients, only five of whom had a severe phenotype. The present study evaluated the cMRI results of additional 18 patients, 6 with a severe and 12 with a milder ZSS phenotype. It confirms and extends knowledge of the characteristic cMRI pattern in ZSS patients. Besides an abnormal gyration pattern and delayed myelination or leukencephalopathy, brain atrophy was a common finding. Polymicrogyria and pachygyria were more common in patients with severe ZSS, while leukencephalopathy increases with age in patients with longer survival. Nevertheless, an abnormal gyration pattern might be more frequent in patients with a mild ZSS than deduced from previous studies. In addition, we discuss the differential diagnosis of the ZSS cMRI pattern and review investigations on the pathogenesis of the ZSS cerebral phenotype in mouse models of the disease.
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