ArticleNeurobiology of disease2021
A novel non-human primate model of Pelizaeus-Merzbacher disease.
Article in Neurobiology of disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- From insights to innovations: evaluating preclinical paradigms in demyelinating disease therapeutics.Lab animal · 2026Review
- A canineProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Forward and reverse genomic screens enhance the understanding of phenotypic variation in a large Chinese rhesus macaque cohort.Nature communications · 2025Article
- Non-human primates as preclinical models for optic nerve research: advancing insights into their application and potential.Eye (London, England) · 2025Review
- Pelizaeus-Merzbacher disease: on the cusp of myelin medicine.Trends in molecular medicine · 2024Review
- Genetic variants in melanogenesis proteins TYRP1 and TYR are associated with the golden rhesus macaque phenotype.G3 (Bethesda, Md.) · 2023Article
- Nonhuman primate genetic models for the study of rare diseases.Orphanet journal of rare diseases · 2023Review
- The Fidget Factor and the obesity paradox. How small movements have big impact.Frontiers in sports and active living · 2023Article
- Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia.Biomedicines · 2022Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Pelizaeus-Merzbacher disease (PMD) is a severe hypomyelinating disorder of the central nervous system (CNS) linked to mutations in the proteolipid protein-1 (PLP1) gene. Although there are multiple animal models of PMD, few of them fully mimic the human disease. Here, we report three spontaneous cases of male neonatal rhesus macaques with the clinical symptoms of hypomyelinating disease, including intention tremors, progressively worsening motor dysfunction, and nystagmus. These animals demonstrated a paucity of CNS myelination accompanied by reactive astrogliosis, and a lack of PLP1 expression throughout white matter. Genetic analysis revealed that these animals were related to one another and that their parents carried a rare, hemizygous missense variant in exon 5 of the PLP1 gene. These animals therefore represent the first reported non-human primate model of PMD, providing a novel and valuable opportunity for preclinical studies that aim to promote myelination in pediatric hypomyelinating diseases.
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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 Socratic graph.