What is a leukodystrophy?
Leukodystrophies are diseases of the nervous system. Both the brain and the spinal cord are usually involved. The brain consists of a surface of nerve cells, called the “grey matter”, and a central core of connecting fibers, called the “white matter”. Myelin is the insulating material around nerve fibers that gives the connecting fiber layer its characteristic white appearance. The term “leukodystrophy” is derived from the Greek words “leuko, meaning white, and “dystrophy”, meaning degeneration. Hence, a leukodystrophy is a degenerative disease of white matter.
This image is a MRI of a six-year-old boy with X-linked adrenoleukodystrophy.
Symptoms can begin at any age and vary in severity depending on the type of leukodystrophy (see classification below). The first symptoms are often ataxia and gait difficulties. Cognition may be affected either early or late in the course of the disease. The symptoms are progressive in nature, meaning they tend to get worse over time. Most of the leukodystrophies are thought to have genetic causes. Extensive evaluation using blood tests, spinal fluid sampling, and MR imaging of the brain and spinal cord is necessary to diagnose these disorders. In some cases the diagnosis can lead to treatment options (see “Management/Treatment” section).
Types of Leukodystrophies
18q Syndrome with deficiency of myelin basic protein
Adrenoleukodystrophy (ALD)
Adrenomyeloneuropathy (AMN)
Aicardi-Goutieres Syndrome
Alexander Disease
Autosomal Dominant Diffuse Leukoencephalopathy with neuroaxonal spheroids
Childhood Ataxia with diffuse CNS Hypomyelination (CACH or Vanishing White Matter Disease)
Canavan Disease
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Cerebrotendinous Xanthomatosis (CTX)
Craniometaphyseal dysplasia with leukoencephalopathy
Familial adult-onset leukodystrophy manifesting as cerebellar ataxia and dementia
Familial leukodystrophy with adult onset dementia and abnormal glycolipid storage
Globoid Cell Leukodystrophy (Krabbe Disease)
Hereditary adult onset leukodystrophy simulating chronic progressive multiple sclerosis
Lipomembranous osteodysplasia with leukodystrophy (Nasu Disease)
Metachromatic Leukodystrophy (MLD)
Megalencephalic leukodystrophy with subcortical cysts (MLC)
Oculodetatoldigital Dysplasia with cerebral white matter abnormalities
Orthochromatic leukodystrophy with pigmented glia
Ovarioleukodystrophy Syndrome
Pelizaeus Merzbacher Disease (X-linked spastic paraplegia)
Refsum Disease
Sjogren-Larssen Syndrome
Sudanophilic Leukodystrophy
Vanishing White Matter Disease (Childhood ataxia with diffuse central nervous system hypomyelination, or CACH)
X-linked Adrenoleukodystrophy (X-ALD)
Zellweger Spectrum: Zellweger Syndrome, Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease
Resources
United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, Illinois USA 60178
Phone: (800) 728-5483
http://www.ulf.org/
Metachromatic Leukodystrophy Foundation
21345 Miles Drive
West Linn, OR 97068-2878
Email: info@mldfoundation.org
http://www.mldfoundation.org
National Organization for Rare Disorders
55 Kenosia Avenue
PO Box 1968
Danbury, CT 06813-1968
Phone: (203) 744-0100
http://www.rarediseases.org
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