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

Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples.
 

Author(s): Zdenek Spacil, Arun Babu Kumar, Hsuan-Chieh Liao, Christiane Auray-Blais, Samantha Stark, Teryn R Suhr, C Ronald Scott, Frantisek Turecek, Michael H Gelb

Journal: Clin. Chem.. 2016 Jan;62(1):279-86.

 

Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder caused by deficiency in arylsulfatase A activity, leading to accumulation of sulfatide substrates. Diagnostic and monitoring procedures include demonstration of reduced arylsulfatase A activity in peripheral blood ...

Last Updated: 31 Dec 2015

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The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.
 

Author(s): Jeremy M Baskin, Xudong Wu, Romain Christiano, Michael S Oh, Curtis M Schauder, Elisabetta Gazzerro, Mirko Messa, Simona Baldassari, Stefania Assereto, Roberta Biancheri, Federico Zara, Carlo Minetti, Andrea Raimondi, Mikael Simons, Tobias C Walther, Karin M Reinisch, Pietro De Camilli

Journal: Nat. Cell Biol.. 2016 Jan;18(1):132-8.

 

Genetic defects in myelin formation and maintenance cause leukodystrophies, a group of white matter diseases whose mechanistic underpinnings are poorly understood. Hypomyelination and congenital cataract (HCC), one of these disorders, is caused by mutations in FAM126A, a gene of unknown ...

Last Updated: 23 Dec 2015

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Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report.
 

Author(s): Alexander A Boucher, Weston Miller, Ryan Shanley, Richard Ziegler, Troy Lund, Gerald Raymond, Paul J Orchard

Journal:

 

Metachromatic Leukodystrophy (MLD) is a rare, fatal demyelinating disorder with limited treatment options. Published outcomes after hematopoietic stem cell transplantation (HSCT) are scant and mixed. We report survival and function following HSCT for a large, single-center MLD cohort.

Last Updated: 6 Aug 2015

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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 8 free, full-text review articles on human participants. First 3 results:

Experimental therapies in the murine model of globoid cell leukodystrophy.
 

Author(s): Yedda Li, Mark S Sands

Journal: Pediatr. Neurol.. 2014 Nov;51(5):600-6.

 

Globoid cell leukodystrophy or Krabbe disease, is a rapidly progressive childhood lysosomal storage disorder caused by a deficiency in galactocerebrosidase. Galactocerebrosidase deficiency leads to the accumulation of galactosylsphingosine (psychosine), a cytotoxic lipid especially ...

Last Updated: 2 Dec 2014

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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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Symptoms, Diagnosis, and Treatment

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

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: 26 Feb 2016

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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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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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