Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Pelizaeus-Merzbacher Disease — Research Summary
Printed from RareWays (rareways.org) on 26 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Pelizaeus-Merzbacher disease in a manifesting female carrier with a PLP1 frameshift variant: neuroimaging and neurophysiological findings
Jieon Lee et al. — Annals of Clinical Neurophysiology (11 August 2026)
https://doi.org/10.14253/acn.26005
- 2.
From PLP1 Misfolding to Oligodendrocyte Degeneration: A Proteostasis-Centered Framework for Pelizaeus-Merzbacher Disease.
Li Tianyi et al. — Cells (23 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42587728/
- 3.
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).
Sevagamoorthy Anjana et al. — Molecular genetics and metabolism (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42176404/
- 4.
Clinical and Genetic Characteristics of Children with Pelizaeus-Merzbacher Disease.
Chen Haolin et al. — Journal of child neurology (21 June 2026)
https://pubmed.ncbi.nlm.nih.gov/42324087/
- 5.
Pelizaeus-Merzbacher Syndrome
Charles E. Schwartz et al. (1 April 2026)
https://doi.org/10.1093/med/9780197809020.003.0122
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher disease is a rare inherited leukodystrophy in which myelin, the insulating coating around nerve fibres in the brain, fails to form properly. Signs usually begin in infancy with wobbly eye movements, low muscle tone and delayed development, and stiffness of the limbs follows later. It is caused by changes in the PLP1 gene and mainly affects boys. Care is supportive.
Most Recent Research
The Annals of Clinical Neurophysiology (ACN), the joint official journal of The Korean Society of Clinical Neurophysiology and The Korean Society of Pain & Autonomic Disorders, publishes twice a year on April 30 and October 31 in English.
Common Questions
What is Pelizaeus-Merzbacher Disease?
Pelizaeus-Merzbacher disease is a rare inherited leukodystrophy in which myelin, the insulating coating around nerve fibres in the brain, fails to form properly. Signs usually begin in infancy with wobbly eye movements, low muscle tone and delayed development, and stiffness of the limbs follows later. It is caused by changes in the PLP1 gene and mainly affects boys. Care is supportive.
How many clinical trials are available for Pelizaeus-Merzbacher Disease?
RareWays currently indexes 3 clinical trials for Pelizaeus-Merzbacher Disease, of which 2 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Pelizaeus-Merzbacher Disease come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.