ArticleActa neuropathologica2009
Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.
Article in Acta neuropathologica, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 47 citations in OpenAlex.
- Review
- Synergistic Effect Evaluation and Mechanism Investigation of Vitamin B6 and B12 in Models of Neuroinflammation.International journal of molecular sciences · 2025Article
- Comparative Analysis of Histological Tools for Myelin.Neuroscience bulletin · 2025Review
- Atlas-based assessment of hypomyelination: Quantitative MRI in Pelizaeus-Merzbacher disease.Human brain mapping · 2024Article
- Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility.Frontiers in cellular neuroscience · 2023Review
- In Silico Structural Analysis Predicting the Pathogenicity of PLP1 Mutations in Multiple Sclerosis.Brain sciences · 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
- Remyelination Trials: Are We Expecting the Unexpected?Neurology(R) neuroimmunology & neuroinflammation · 2021Review
- A novel non-human primate model of Pelizaeus-Merzbacher disease.Neurobiology of disease · 2021Article
- Pathology of the neurovascular unit in leukodystrophies.Acta neuropathologica communications · 2021Article
- Hypomyelinating leukodystrophies - unravelling myelin biology.Nature reviews. Neurology · 2021Review
- Neural stem cells restore myelin in a demyelinating model of Pelizaeus-Merzbacher disease.Brain : a journal of neurology · 2020Article
- Auditory function in Pelizaeus-Merzbacher disease.Journal of neurology · 2018Article
- Insertion of proteolipid protein into mitochondria but not DM20 regulates metabolism of cells.Neuroscience letters · 2018Article
- Neurogenetics of Pelizaeus-Merzbacher disease.Handbook of clinical neurology · 2018Review
- Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.European journal of human genetics : EJHG · 2017Article
- Novel pathologic findings in patients with Pelizaeus-Merzbacher disease.Neuroscience letters · 2016Article
- A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.PLoS genetics · 2016Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 6 institutions in 1 country.
Funding
Abstract
Mutations affecting proteolipid protein 1 (PLP1), the major protein in central nervous system myelin, cause the X-linked leukodystrophy Pelizaeus-Merzbacher disease (PMD). We describe the neuropathologic findings in a series of eight male PMD subjects with confirmed PLP1 mutations, including duplications, complete gene deletion, missense and exon-skipping. While PLP1 mutations have effects on oligodendrocytes that result in mutation-specific degrees of dysmyelination, our findings indicate that there are also unexpected effects in the central nervous system resulting in neuronal loss. Although length-dependent axonal degeneration has been described in PLP1 null mutations, there have been no reports on neuronal degeneration in PMD patients. We now demonstrate widespread neuronal loss in PMD. The patterns of neuronal loss appear to be dependent on the mutation type, suggesting selective vulnerability of neuronal populations that depends on the nature of the PLP1 disturbance. Nigral neurons, which were not affected in patients with either null or severe misfolding mutations, and thalamic neurons appear particularly vulnerable in PLP1 duplication and deletion patients, while hippocampal neuronal loss was prominent in a patient with complete PLP1 gene deletion. All subjects showed cerebellar neuronal loss. The patterns of neuronal involvement may explain some clinical findings, such as ataxia, being more prominent in PMD than in other leukodystrophies. While the precise pathogenetic mechanisms are not known, these observations suggest that defective glial functions contribute to neuronal pathology.
Indexed as
Identifiers
What OpenQuestion holds
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.