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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How do you compare to others with this condition?

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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

 

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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 52 free, full-text research articles on human participants. First 3 results:

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
 

Author(s): Julien Masliah-Planchon, Céline Dupont, George Vartzelis, Aurélien Trimouille, Eléonore Eymard-Pierre, Mathilde Gay-Bellile, Florence Renaldo, Imen Dorboz, Cécile Pagan, Samuel Quentin, Monique Elmaleh, Christina Kotsogianni, Elissavet Konstantelou, Séverine Drunat, Anne-Claude Tabet, Odile Boespflug-Tanguy

Journal:

 

Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder characterized by nystagmus, hypotonia, ataxia, progressive spasticity, and cognitive decline. PMD classically results from a duplication of a genomic segment encompassing the entire PLP1 gene. Since the PLP1 ...

Last Updated: 2 Sep 2015

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Clinical pictures in Pelizaeus-Merzbacher disease: a report of a case.
 

Author(s): Chiharu Miyatake, Shinya Koizumi, Hidehiko Narazaki, Takeshi Asano, Hitoshi Osaka, Kenji Kurosawa, Jun-Ichi Takanashi, Osamu Fujino

Journal: J Nippon Med Sch. 2015 ;82(2):74-5.

 

Last Updated: 11 May 2015

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Umbilical cord blood transplantation to treat Pelizaeus-Merzbacher Disease in 2 young boys.
 

Author(s): Jessica Wishnew, Kristin Page, Susan Wood, Leo Galvin, James Provenzale, Maria Escolar, Kathryn Gustafson, Joanne Kurtzberg

Journal: Pediatrics. 2014 Nov;134(5):e1451-7.

 

Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive leukodystrophy caused by mutations in the proteolipid protein 1 gene on the Xq22 chromosome. PMD is a dysmyelinating disorder characterized by variable clinical presentation and course. Symptoms range from mild motor ...

Last Updated: 3 Nov 2014

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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 2 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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Pelizaeus-Merzbacher disease.
 

Author(s): Arnulf H Koeppen, Yves Robitaille

Journal: J. Neuropathol. Exp. Neurol.. 2002 Sep;61(9):747-59.

 

Pelizaeus-Merzbacher disease (PMD) can now be defined as an X-linked recessive leukodystrophy that is caused by a mutation in the proteolipid protein (PLP) gene on chromosome Xq22. The most common mutation is gene duplication followed in frequency by missense mutations, insertions, ...

Last Updated: 16 Sep 2002

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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

 

Last Updated: 4 Feb 2016

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