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

Leukodystrophy with premature ovarian failure: think on vanishing white matter disease (VWMD).
 

Author(s): Fernando Freua, Jacy Bezerra Parmera, Denise de Oliveira Doria, Anderson Rodrigues Brandão de Paiva, Lucia Ines Macedo-Souza, Fernando Kok

Journal: Arq Neuropsiquiatr. 2015 Jan;73(1):65.

 

Last Updated: 22 Jan 2015

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Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
 

Author(s): Nicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, Raphael Schiffmann, Bernard Brais, Marianna Bugiani, Erik Sistermans, Coriene Catsman-Berrevoets, Johan M Kros, Pedro Soares Pinto, Daniela Pohl, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Sébastien Fribourg, Michelle Demos, Amy Pizzino, Sakkubai Naidu, Kether Guerrero, Marjo S van der Knaap, Geneviève Bernard,

Journal: Neurology. 2014 Nov;83(21):1898-905.

 

To study the clinical and radiologic spectrum and genotype-phenotype correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy caused by mutations in POLR3A or POLR3B.

Last Updated: 18 Nov 2014

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Novel (ovario) leukodystrophy related to AARS2 mutations.
 

Author(s): Cristina Dallabona, Daria Diodato, Sietske H Kevelam, Tobias B Haack, Lee-Jun Wong, Gajja S Salomons, Enrico Baruffini, Laura Melchionda, Caterina Mariotti, Tim M Strom, Thomas Meitinger, Holger Prokisch, Kim Chapman, Alison Colley, Helena Rocha, Katrin Ounap, Raphael Schiffmann, Ettore Salsano, Mario Savoiardo, Eline M Hamilton, Truus E M Abbink, Nicole I Wolf, Ileana Ferrero, Costanza Lamperti, Massimo Zeviani, Adeline Vanderver, Daniele Ghezzi, Marjo S van der Knaap

Journal: Neurology. 2014 Jun;82(23):2063-71.

 

The study was focused on leukoencephalopathies of unknown cause in order to define a novel, homogeneous phenotype suggestive of a common genetic defect, based on clinical and MRI findings, and to identify the causal genetic defect shared by patients with this phenotype.

Last Updated: 25 Jun 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 "Leukodystrophy" returned 7 free, full-text review articles on human participants. First 3 results:

Developing therapeutic approaches for metachromatic leukodystrophy.
 

Author(s): Shilpa A Patil, Gustavo H B Maegawa

Journal:

 

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase A (ASA), resulting in impaired degradation of sulfatide, an essential sphingolipid of myelin. The clinical manifestations of MLD are characterized by progressive ...

Last Updated: 22 Aug 2013

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Adult-onset autosomal dominant leukodystrophy: linking nuclear envelope to myelin.
 

Author(s): Shu-Ting Lin, Louis J Ptácek, Ying-Hui Fu

Journal: J. Neurosci.. 2011 Jan;31(4):1163-6.

 

Last Updated: 28 Jan 2011

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Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.
 

Author(s): Asif Mahmood, Jay Berry, David A Wenger, Maria Escolar, Magdi Sobeih, Gerald Raymond, Florian S Eichler

Journal: J. Child Neurol.. 2010 May;25(5):572-80.

 

Metachromatic leukodystrophy is a rare disorder with great clinical variability. We report the first case of triplets with the late infantile form of the disease and their systematic progression of symptoms. We reviewed the literature and identified all human studies that reported ...

Last Updated: 23 Apr 2010

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Metachromatic Leukodystrophy Disease
 

Status: Recruiting

Condition Summary: Leukodystrophy, Metachromatic; Hereditary Central Nervous System Demyelinating Diseases; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System

 

Last Updated: 7 May 2015

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Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy
 

Status: Recruiting

Condition Summary: Metachromatic Leukodystrophy

 

Last Updated: 28 Jan 2014

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Imaging Study of the White Matter Lesions in Children With Metachromatic Leucodystrophy
 

Status: Recruiting

Condition Summary: Late Infantile Metachromatic Leukodystrophy

 

Last Updated: 20 Apr 2015

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