Leukodystrophies

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Basics

• Summary
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• Treatments and Therapies

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• Specifics
• Genetics

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• Clinical Trials
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Summary

The leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with

• Movement
• Speaking
• Vision
• Hearing
• Mental and physical development

Most of the leukodystrophies are genetic. They usually appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time.

There are no cures for any of the leukodystrophies. Medicines, speech therapy and physical therapy might help with symptoms. Researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies.

NIH: National Institute of Neurological Disorders and Stroke

Start Here

• Leukodystrophy (National Institute of Neurological Disorders and Stroke) Also in Spanish
• What Is Leukodystrophy? (United Leukodystrophy Foundation)

Treatments and Therapies

• Krabbe Disease (GLD) (National Marrow Donor Program)

Specifics

• Adrenoleukodystrophy (National Institute of Neurological Disorders and Stroke)
• Alexander Disease (National Institute of Neurological Disorders and Stroke)
• CADASIL (National Institute of Neurological Disorders and Stroke)
• Canavan Disease (National Institute of Neurological Disorders and Stroke)
• Krabbe Disease (National Institute of Neurological Disorders and Stroke)
• Metachromatic Leukodystrophy (National Institute of Neurological Disorders and Stroke)
• Pelizaeus-Merzbacher Disease (National Institute of Neurological Disorders and Stroke)
• Refsum Disease (National Institute of Neurological Disorders and Stroke)
• Types of Leukodystrophies (United Leukodystrophy Foundation)
• Zellweger Syndrome (National Institute of Neurological Disorders and Stroke)

Genetics

• adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: MedlinePlus Genetics (National Library of Medicine)
• Aicardi-Goutières syndrome: MedlinePlus Genetics (National Library of Medicine)
• Alexander disease: MedlinePlus Genetics (National Library of Medicine)
• autosomal dominant leukodystrophy with autonomic disease: MedlinePlus Genetics (National Library of Medicine)
• Canavan disease: MedlinePlus Genetics (National Library of Medicine)
• D-bifunctional protein deficiency: MedlinePlus Genetics (National Library of Medicine)
• hypomyelination and congenital cataract: MedlinePlus Genetics (National Library of Medicine)
• hypomyelination with brainstem and spinal cord involvement and leg spasticity: MedlinePlus Genetics (National Library of Medicine)
• Krabbe disease: MedlinePlus Genetics (National Library of Medicine)
• leukoencephalopathy with thalamus and brainstem involvement and high lactate: MedlinePlus Genetics (National Library of Medicine)
• leukoencephalopathy with vanishing white matter: MedlinePlus Genetics (National Library of Medicine)
• megalencephalic leukoencephalopathy with subcortical cysts: MedlinePlus Genetics (National Library of Medicine)
• metachromatic leukodystrophy: MedlinePlus Genetics (National Library of Medicine)
• Pelizaeus-Merzbacher disease: MedlinePlus Genetics (National Library of Medicine)
• Pelizaeus-Merzbacher-like disease type 1: MedlinePlus Genetics (National Library of Medicine)
• peroxisomal acyl-CoA oxidase deficiency: MedlinePlus Genetics (National Library of Medicine)
• Pol III-related leukodystrophy: MedlinePlus Genetics (National Library of Medicine)
• RNAse T2-deficient leukoencephalopathy: MedlinePlus Genetics (National Library of Medicine)
• TUBB4A-related leukodystrophy: MedlinePlus Genetics (National Library of Medicine)
• X-linked adrenoleukodystrophy: MedlinePlus Genetics (National Library of Medicine)
• Zellweger spectrum disorder: MedlinePlus Genetics (National Library of Medicine)

Clinical Trials

• ClinicalTrials.gov: Adrenoleukodystrophy (National Institutes of Health)
• ClinicalTrials.gov: Canavan Disease (National Institutes of Health)
• ClinicalTrials.gov: Leukodystrophy, Globoid Cell (National Institutes of Health)
• ClinicalTrials.gov: Leukodystrophy, Metachromatic (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: NGS-based expanded carrier screening for genetic disorders in North Indian population...
• Article: Brainstem development requires galactosylceramidase and is critical for pathogenesis in a...
• Article: Synthesis and structure-activity relationships of cerebroside analogues as substrates of cerebroside...
• Leukodystrophies -- see more articles

Find an Expert

• Genetic and Rare Diseases Information Center
• National Institute of Neurological Disorders and Stroke Also in Spanish