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The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.
Features include very common findings: Nystagmus and CNS hypomyelination; and common findings: Spastic tetraparesis, Moderate intellectual disability, and Severe intellectual disability.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Spastic tetraparesis, Moderate intellectual disability, Severe intellectual disability |
Biomarker and diagnostic research for Pelizaeus-Merzbacher disease, transitional form has been reported in the published literature.
Phenotype severity distribution: 2 very common features, 3 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Pelizaeus-Merzbacher disease, transitional form.
17 publications have been identified in PubMed for Pelizaeus-Merzbacher disease, transitional form. Research spans Basic Science / Preclinical (31%), Case Report / Case Series (25%), and Review / Meta-Analysis (19%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 5 | 31% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:51 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Pelizaeus-Merzbacher disease, transitional form
Eyes
1 |
Nystagmus |
Patient case studies
4 |
25% |
Research summaries | 3 | 19% |
Testing and diagnosis research | 2 | 13% |
Disease patterns and progression | 1 | 6% |
New treatment approaches | 1 | 6% |
Liu Q (2026). [PMID: 42161088](https://pubmed.ncbi.nlm.nih.gov/42161088/). *Water Res*. [Basic Science / Preclinical]
Rodas Garzaro J (2025). [PMID: 40300642](https://pubmed.ncbi.nlm.nih.gov/40300642/). *Aktuelle Urologie*. [Case Report / Case Series]
Asin-Garcia E (2025). [PMID: 39592270](https://pubmed.ncbi.nlm.nih.gov/39592270/). *Trends in biotechnology*. [Review / Meta-Analysis]
Pérez de Alba Ortíz A (2025). [PMID: 41060125](https://pubmed.ncbi.nlm.nih.gov/41060125/). *The Journal of chemical physics*. [Gene Therapy / Novel Therapeutics]
Wang L (2025). [PMID: 40515694](https://pubmed.ncbi.nlm.nih.gov/40515694/). *International journal of psychiatry in clinical practice*. [Review / Meta-Analysis]
Choi H (2025). [PMID: 41067228](https://pubmed.ncbi.nlm.nih.gov/41067228/). *Neuron*. [Case Report / Case Series]
Galea M (2025). [PMID: 40376385](https://pubmed.ncbi.nlm.nih.gov/40376385/). *Cureus*. [Case Report / Case Series]
Jabeen S (2025). [PMID: 41458849](https://pubmed.ncbi.nlm.nih.gov/41458849/). *Cureus*. [Diagnostic / Biomarker]
Eswaran S (2025). [PMID: 40319292](https://pubmed.ncbi.nlm.nih.gov/40319292/). *Cell communication and signaling : CCS*. [Basic Science / Preclinical]
Gong D (2025). [PMID: 40493033](https://pubmed.ncbi.nlm.nih.gov/40493033/). *The Journal of general physiology*. [Basic Science / Preclinical]
AI-curated news mentioning Pelizaeus-Merzbacher disease, transitional form
Updated Feb 17, 2026
A study identifies a canine PLP1 missense variant that influences oligodendrocyte maturation in connatal and classical Pelizaeus-Merzbacher disease. This research could provide insights into the mechanisms underlying these forms of the disease.