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.

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: 14 Jan 2013

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General Support Organizations

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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

View Details
The Stennis Foundation

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

http://www.stennisfoundation.org

Last Updated: 14 Jan 2013

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

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
 

Author(s): Dorota Hoffman-Zacharska, Hanna Mierzewska, Elżbieta Szczepanik, Jarosław Poznański, Tomasz Mazurczak, Anna Jakubiuk-Tomaszuk, Jacek Mądry, Anatol Kierdaszuk, Jerzy Bal

Journal: Med Wieku Rozwoj. ;17(4):293-300.

 

The Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive hypomyelination disorder caused by mutations of the proteolipid protein1 gene (PLP1). There is a spectrum of PLP1-related disorders from very severe connatal PMD, through classical PMD to mild spastic paraplegia type ...

Last Updated: 12 Feb 2014

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Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease.
 

Author(s): Yurika Numata, Toshifumi Morimura, Shoko Nakamura, Eriko Hirano, Shigeo Kure, Yu-Ich Goto, Ken Inoue

Journal: J. Biol. Chem.. 2013 Mar;288(11):7451-66.

 

Missense mutations in the proteolipid protein 1 (PLP1) gene cause a wide spectrum of hypomyelinating disorders, from mild spastic paraplegia type 2 to severe Pelizaeus-Merzbacher disease (PMD). Mutant PLP1 accumulates in the endoplasmic reticulum (ER) and induces ER stress. However, ...

Last Updated: 18 Mar 2013

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Fatal tracheo-innominate artery fistula after tracheostomy in a patient with Pelizaeus-Merzbacher disease.
 

Author(s): Takehide Imai, Masato Takase, Sachiyo Takeda, Katsuji Hosone, Shunichi Tomiyama, Yuichi Nakanowatari

Journal: J Nippon Med Sch. 2012 ;79(4):274-9.

 

Tracheo-innominate artery fistula (TIF) is a serious, life-threatening complication following tracheostomy. We report a fatal TIF in a 15-year-old girl with Pelizaeus-Merzbacher disease. She received a tracheostomy for prolonged translaryngeal intubation due to acute respiratory failure ...

Last Updated: 14 Sep 2012

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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

Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases
 

Status: Recruiting

Condition Summary: Lysosomal Storage Diseases; Inborn Errors of Metabolism

 

Last Updated: 5 Nov 2013

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