ArticleJournal of the neurological sciences2013
Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease.
Article in Journal of the neurological sciences, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 37 citations in OpenAlex.
- Review
- Pelizaeus-Merzbacher disease in children: A case report.Radiology case reports · 2026Article
- Atlas-based assessment of hypomyelination: Quantitative MRI in Pelizaeus-Merzbacher disease.Human brain mapping · 2024Article
- The natural history of Pelizaeus-Merzbacher disease caused by PLP1 duplication: A multiyear case series.Clinical case reports · 2023Article
- Identification of PMD subgroups using a myelination score for PMD.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2022Article
- The neurovascular unit in leukodystrophies: towards solving the puzzle.Fluids and barriers of the CNS · 2022Review
- Altered high-energy phosphate and membrane metabolism in Pelizaeus-Merzbacher disease using phosphorus magnetic resonance spectroscopy.Brain communications · 2022Article
- Pathology of the neurovascular unit in leukodystrophies.Acta neuropathologica communications · 2021Article
- Hypomyelinating leukodystrophies - unravelling myelin biology.Nature reviews. Neurology · 2021Review
- Expanding the Clinical and Mutational Spectrum of theBrain sciences · 2021Article
- Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.Molecular therapy. Nucleic acids · 2018Article
- Auditory function in Pelizaeus-Merzbacher disease.Journal of neurology · 2018Article
- Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease.Colombia medica (Cali, Colombia) · 2018Article
- Neurogenetics of Pelizaeus-Merzbacher disease.Handbook of clinical neurology · 2018Review
- Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.American journal of human genetics · 2017Article
- Altered PLP1 splicing causes hypomyelination of early myelinating structures.Annals of clinical and translational neurology · 2015Article
- PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.Human molecular genetics · 2014Article
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8 authors at 2 institutions in 1 country.
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Abstract
objectiveTo determine whether quantitative measure of magnetic resonance imaging data from patients with the inherited leukodystrophy, Pelizaeus-Merzbacher disease (PMD) correlates with clinical severity or progression.
methodsIn our current work we have analyzed the clinical phenotypes and MRI scans of 51 male patients with PMD and 10 female carriers for whom the PLP1 genotype had been determined. In addition, we developed a 32-point functional disability scoring (FDS) system for PMD, and validated it for inter-rater reliability. Using conventional T1- and T2-weighted MRI images of the whole brain, we measured white matter and total brain volume (WMV and TBV), inter-caudate ratio (ICR), and corpus callosum area.
resultsThere was a significant positive correlation of FDS with white matter fraction (WMV/TBV) and corpus callosum area. Also, when applying a median split based on FDS, patients with lower FDS showed reduced white matter fraction and corpus callosum area, and increased ICR compared to patients with relatively higher FDS, regardless of age.
conclusionAlthough this patient population is heterogeneous, with multiple genetic and molecular mechanisms causing PMD, these data imply that white matter atrophy is a major pathological determinant of the clinical disability in most patients. Development of reliable non-invasive quantitative biomarkers of disease activity would be useful not only for following the natural history of the disease, but also raising the potential for evaluating future therapies.
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