Leukodystrophy

Common Name(s)

Leukodystrophy

Leukodystrophy refers to the progressive degeneration of the white matter of the brain due to abnormalities of myelin, the fatty covering that insulates nerves. The leukodystrophies are a group of disorders caused by mutations in the genes involved in the production of myelin. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, X-linked adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease. The most common symptom of a leukodystrophy is a gradual decline in functioning of an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior.  
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leukodystrophy" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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Hunter's Hope Foundation

The Foundation's mission is to increase public awareness of Krabbe Disease and other leukodystrophies, as well as to increase the likelihood of early detection and treatment. The Foundation's goal is to fund research efforts to identify new treatments, therapies and a cure for Krabbe Disease.

Last Updated: 28 May 2015

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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The Myelin Project

We are an international 501(c)(3) non-profit organization funding medical research and raising awareness for rare brain diseases.

Last Updated: 13 Nov 2012

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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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United Leukodystrophy Foundation, Inc.

The United Leukodystrophy Foundation serves individuals and families affected by leukodystrophy by exchanging information and promoting progress on research, treatment and prevention.

Last Updated: 20 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leukodystrophy" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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Hunter's Hope Foundation

The Foundation's mission is to increase public awareness of Krabbe Disease and other leukodystrophies, as well as to increase the likelihood of early detection and treatment. The Foundation's goal is to fund research efforts to identify new treatments, therapies and a cure for Krabbe Disease.

http://www.huntershope.org

Last Updated: 28 May 2015

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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The Myelin Project

We are an international 501(c)(3) non-profit organization funding medical research and raising awareness for rare brain diseases.

http://www.myelin.org

Last Updated: 13 Nov 2012

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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

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United Leukodystrophy Foundation, Inc.

The United Leukodystrophy Foundation serves individuals and families affected by leukodystrophy by exchanging information and promoting progress on research, treatment and prevention.

http://www.ulf.org

Last Updated: 20 Jul 2015

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General Support Organizations

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General Resources

Krabbe Newborn Screening

Brochure written for families who have received a positive newborn screen result for Krabbe disease. Brochure is also available in Spanish.

Updated 24 Oct 2012

Open Doc
 
 
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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 "Leukodystrophy" returned 179 free, full-text research articles on human participants. First 3 results:

Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.
 

Author(s): Karine Choquet, Sharon Yang, Robyn D Moir, Diane Forget, Roxanne Larivière, Annie Bouchard, Christian Poitras, Nicolas Sgarioto, Marie-Josée Dicaire, Forough Noohi, Timothy E Kennedy, Joseph Rochford, Geneviève Bernard, Martin Teichmann, Benoit Coulombe, Ian M Willis, Claudia L Kleinman, Bernard Brais

Journal:

 

Recessive mutations in the ubiquitously expressed POLR3A gene cause one of the most frequent forms of childhood-onset hypomyelinating leukodystrophy (HLD): POLR3-HLD. POLR3A encodes the largest subunit of RNA Polymerase III (Pol III), which is responsible for the transcription of ...

Last Updated: 14 Apr 2017

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Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.
 

Author(s): Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Lillian Gonçalves Campos, Adriana Vanessa Santini Deyl, Maira Graeff Burin, Carmen Regla Vargas, Ursula da Silveira Matte, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Leonardo Modesti Vedolin, Lauro José Gregianin, Laura Bannach Jardim

Journal: Arq Neuropsiquiatr. 2016 Dec;74(12):953-966.

 

To describe survival and neurological outcomes after HSCT for these disorders.

Last Updated: 19 Dec 2016

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The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.
 

Author(s): Mio Hamatani, Naoto Jingami, Yoshinori Tsurusaki, Shino Shimada, Keiko Shimojima, Megumi Asada-Utsugi, Kenji Yoshinaga, Norihito Uemura, Hirofumi Yamashita, Kengo Uemura, Ryosuke Takahashi, Naomichi Matsumoto, Toshiyuki Yamamoto

Journal: J. Hum. Genet.. 2016 Oct;61(10):899-902.

 

Even now, only a portion of leukodystrophy patients are correctly diagnosed, though various causative genes have been identified. In the present report, we describe a case of adult-onset leukodystrophy in a woman with ovarian failure. By whole-exome sequencing, a compound heterozygous ...

Last Updated: 2 Jun 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 "Leukodystrophy" returned 11 free, full-text review articles on human participants. First 3 results:

Cellular transplant therapies for globoid cell leukodystrophy: Preclinical and clinical observations.
 

Author(s): Keri R Maher, Andrew M Yeager

Journal: J. Neurosci. Res.. 2016 Nov;94(11):1180-8.

 

Globoid cell leukodystrophy (GLD) is a progressive neurodegenerative disorder caused by the deficiency of galactocerebrosidase (GALC), resulting in accumulation of toxic metabolites in neural tissues. Clinically variable based on age of onset, infantile GLD is generally a rapidly ...

Last Updated: 17 Sep 2016

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Gene therapy for metachromatic leukodystrophy.
 

Author(s): Jonathan B Rosenberg, Stephen M Kaminsky, Patrick Aubourg, Ronald G Crystal, Dolan Sondhi

Journal: J. Neurosci. Res.. 2016 Nov;94(11):1169-79.

 

Leukodystrophies (LDs) are rare, often devastating genetic disorders with neurologic symptoms. There are currently no disease-specific therapeutic approaches for these diseases. In this review we use metachromatic leukodystrophy as an example to outline in the brief the therapeutic ...

Last Updated: 17 Sep 2016

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A microglial hypothesis of globoid cell leukodystrophy pathology.
 

Author(s): Alexandra M Nicaise, Ernesto R Bongarzone, Stephen J Crocker

Journal: J. Neurosci. Res.. 2016 Nov;94(11):1049-61.

 

Globoid cell leukodystrophy (GLD), also known as Krabbe's disease, is a fatal demyelinating disease accompanied by the formation of giant, multinucleated cells called globoid cells. Previously believed to be a byproduct of inflammation, these cells can be found early in disease before ...

Last Updated: 17 Sep 2016

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History of the Leukodystrophies
 

Status: Recruiting

Condition Summary: Leukodystrophies

 

Last Updated: 21 Jul 2016

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Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
 

Status: Recruiting

Condition Summary: Metachromatic Leukodystrophy; Adrenoleukodystrophy

 

Last Updated: 23 Sep 2015

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LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
 

Status: Recruiting

Condition Summary: Leukodystrophy; White Matter Disease

 

Last Updated: 19 Apr 2017

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