Pelizaeus-Merzbacher disease

Common Name(s)

Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inability to form myelin due to mutations in the PLP1 gene. It is passed through families in an X-linked recessive pattern. The condition primarily affects males.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pelizaeus-Merzbacher disease" for support, advocacy or research.

The PMD Foundation, Inc.

A family driven foundation proactively serving those affected by Pelizaeus-Merzbacher Disease (the PMD community) by supporting programs of education, research, service and advocacy. We are dedicated to providing patients and their families with information about their disease and assistance in identifying sources of medical care, social service, and genetic counseling; establishing a communications network among families; increasing public awareness and acting as an information source for health care providers; and promoting research into causes, treatment, prevention and cure of PMD.

Last Updated: 20 Feb 2013

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The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

Last Updated: 30 Apr 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pelizaeus-Merzbacher disease" for support, advocacy or research.

The PMD Foundation, Inc.

A family driven foundation proactively serving those affected by Pelizaeus-Merzbacher Disease (the PMD community) by supporting programs of education, research, service and advocacy. We are dedicated to providing patients and their families with information about their disease and assistance in identifying sources of medical care, social service, and genetic counseling; establishing a communications network among families; increasing public awareness and acting as an information source for health care providers; and promoting research into causes, treatment, prevention and cure of PMD.

http://www.pmdfoundation.org

Last Updated: 20 Feb 2013

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The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

http://www.stennisfoundation.org

Last Updated: 30 Apr 2015

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pelizaeus-Merzbacher disease" returned 58 free, full-text research articles on human participants. First 3 results:

Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.
 

Author(s): Zachary S Nevin, Daniel C Factor, Robert T Karl, Panagiotis Douvaras, Jeremy Laukka, Martha S Windrem, Steven A Goldman, Valentina Fossati, Grace M Hobson, Paul J Tesar

Journal: Am. J. Hum. Genet.. 2017 Apr;100(4):617-634.

 

Pelizaeus-Merzbacher disease (PMD) is a pediatric disease of myelin in the central nervous system and manifests with a wide spectrum of clinical severities. Although PMD is a rare monogenic disease, hundreds of mutations in the X-linked myelin gene proteolipid protein 1 (PLP1) have ...

Last Updated: 3 Apr 2017

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General Anesthesia for a Patient With Pelizaeus-Merzbacher Disease.
 

Author(s): Nobuhito Kamekura, Yukie Nitta, Shigeru Takuma, Toshiaki Fujisawa

Journal: Anesth Prog. 2016 ;63(2):91-4.

 

We report the successful management of general anesthesia for a patient with Pelizaeus-Merzbacher disease (PMD). PMD is one of a group of progressive, degenerative disorders of the cerebral white matter. The typical clinical manifestations of PMD include psychomotor retardation, nystagmus, ...

Last Updated: 9 Jun 2016

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Novel pathologic findings in patients with Pelizaeus-Merzbacher disease.
 

Author(s): Jeremy J Laukka, John Kamholz, Denise Bessert, Robert P Skoff

Journal: Neurosci. Lett.. 2016 Aug;627():222-32.

 

Pelizaeus-Merzbacher disease (PMD) is an X-linked inherited hypomyelinating disorder caused by mutations in the gene encoding proteolipid protein (PLP), the major structural protein in central nervous system (CNS) myelin. Prior to our study, whether hypomyelination in PMD was caused ...

Last Updated: 10 Jul 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pelizaeus-Merzbacher disease" returned 1 free, full-text review articles on human participants. First 3 results:

Rabbit paralytic tremor phenotype--a plp1 gene mutation as a model of human Pelizaeus-Merzbacher disease.
 

Author(s): Joanna Sypecka, Krystyna Domańska-Janik

Journal: Acta Neurobiol Exp (Wars). 2005 ;65(2):221-9.

 

The paralytic tremor (pt) disease in rabbits results from a point mutation in a plp gene and manifests itself by a broad range of neurological signs. Biochemical studies have shown that myelinogenesis is retarded and deficient in mutant rabbits. Myelin sheaths are usually thin and ...

Last Updated: 17 Jun 2005

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Clinical Trial Information This information is provided by ClinicalTrials.gov

UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
 

Status: Recruiting

Condition Summary: Adrenoleukodystrophy; Batten Disease; Mucopolysaccharidosis II; Leukodystrophy, Globoid Cell; Leukodystrophy, Metachromatic; Neimann Pick Disease; Pelizaeus-Merzbacher Disease; Sandhoff Disease; Tay-Sachs Disease; Brain Diseases, Metabolic, Inborn; Alpha-Mannosidosis; Sanfilippo Mucopolysaccharidoses

 

Last Updated: 27 Jun 2017

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Longitudinal Study of Neurodegenerative Disorders
 

Status: Recruiting

Condition Summary: MLD; Krabbe Disease; ALD; MPS I; MPS II; MPS III; Vanishing White Matter Disease; GM3 Gangliosidosis; PKAN; Tay-Sachs Disease; NP Deficiency; Osteopetrosis; Alpha-Mannosidosis; Sandhoff Disease; Niemann-Pick Diseases; MPS IV; Gaucher Disease; GAN; GM1 Gangliosidoses; Morquio Disease; S-Adenosylhomocysteine Hydrolase Deficiency; Batten Disease; Pelizaeus-Merzbacher Disease; Leukodystrophy; Lysosomal Storage Diseases; Purine Nucleoside Phosphorylase Deficiency; Multiple Sulfatase Deficiency Disease

 

Last Updated: 3 Nov 2017

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