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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CNS Foundation

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

Last Updated: 12 Oct 2013

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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: 24 Oct 2012

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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: 14 Jan 2013

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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: 4 Jun 2014

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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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CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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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: 24 Oct 2012

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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: 14 Jan 2013

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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: 4 Jun 2014

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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

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

Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.
 

Author(s): Matthis Synofzik, Geneviève Bernard, Tobias Lindig, Janina Gburek-Augustat

Journal: Neurology. 2013 Nov;81(19):e145.

 

An 18-year-old German woman presented with progressive cerebellar ataxia since early childhood, delayed cognitive development, and hypogonadotropic hypogonadism. MRI demonstrated diffuse cerebral hypomyelination, cerebellar atrophy, and thin corpus callosum; X-ray revealed persistent ...

Last Updated: 5 Nov 2013

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Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
 

Author(s): Alessandra Biffi, Eugenio Montini, Laura Lorioli, Martina Cesani, Francesca Fumagalli, Tiziana Plati, Cristina Baldoli, Sabata Martino, Andrea Calabria, Sabrina Canale, Fabrizio Benedicenti, Giuliana Vallanti, Luca Biasco, Simone Leo, Nabil Kabbara, Gianluigi Zanetti, William B Rizzo, Nalini A L Mehta, Maria Pia Cicalese, Miriam Casiraghi, Jaap J Boelens, Ubaldo Del Carro, David J Dow, Manfred Schmidt, Andrea Assanelli, Victor Neduva, Clelia Di Serio, Elia Stupka, Jason Gardner, Christof von Kalle, Claudio Bordignon, Fabio Ciceri, Attilio Rovelli, Maria Grazia Roncarolo, Alessandro Aiuti, Maria Sessa, Luigi Naldini

Journal: Science. 2013 Aug;341(6148):1233158.

 

Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency. Patients with MLD exhibit progressive motor and cognitive impairment and die within a few years of symptom onset. We used a lentiviral vector to transfer a functional ...

Last Updated: 23 Aug 2013

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Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model.
 

Author(s): Mary Y Heng, Shu-Ting Lin, Laure Verret, Yong Huang, Sherry Kamiya, Quasar S Padiath, Ying Tong, Jorge J Palop, Eric J Huang, Louis J Ptáček, Ying-Hui Fu

Journal: J. Clin. Invest.. 2013 Jun;123(6):2719-29.

 

Adult-onset autosomal-dominant leukodystrophy (ADLD) is a progressive and fatal neurological disorder characterized by early autonomic dysfunction, cognitive impairment, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system. ADLD is caused ...

Last Updated: 31 May 2013

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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 6 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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Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?
 

Author(s): C Wider, J A Van Gerpen, S DeArmond, E A Shuster, D W Dickson, Z K Wszolek

Journal: Neurology. 2009 Jun;72(22):1953-9.

 

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and familial pigmentary orthochromatic leukodystrophy (POLD) present as adult-onset dementia with motor impairment and epilepsy. They are regarded as distinct diseases. We review data from the literature that support ...

Last Updated: 2 Jun 2009

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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

MT2013-31:Allo BMT for Metabolic Disorders, Osteopetrosis and Males With Rett Syndrome
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Glycoprotein Metabolic Disorders; Alpha Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Adrenoleukodystrophy; Peroxisomal Disorders; Osteopetrosis; Rett Syndrome; Sphingolipidosis; Gangliosidosis; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann Pick B; Niemann Pick C Subtype 2; I-cell Disease

 

Last Updated: 18 Jul 2014

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HSCT for High Risk Inherited Inborn Errors
 

Status: Recruiting

Condition Summary: Adrenoleukodystrophy; Metachromatic Leukodystrophy; Globoid Cell Leukodystrophy; Tay Sachs Disease; Sandhoffs Disease; Wolman Disease; I-Cell Disease; Sanfilippo Syndrome; GM1 Gangliosidosis

 

Last Updated: 8 Jul 2014

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The Natural History of Metachromatic Leukodystrophy
 

Status: Recruiting

Condition Summary: Metachromatic Leukodystrophy

 

Last Updated: 1 Jul 2013

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