Leukodystrophy

Leukodystrophies are inherited disorders that disrupt the growth or maintenance of central nervous system white matter, often through defects in myelin or related cells.

Myelin: A lipid-rich sheath around many nerve fibers that helps electrical signals travel rapidly. Many leukodystrophies damage this insulating sheath or the cells that produce it.
Metachromatic leukodystrophy: An inherited disorder in which sulfatide accumulation damages myelin in the central and peripheral nervous systems. It is a common leukodystrophy caused most often by deficient arylsulfatase A.
Demyelination: The loss or destruction of myelin sheaths around nerve fibers. Several leukodystrophies progressively destroy myelin that was previously formed.
Magnetic resonance imaging: An imaging method that uses magnetic fields and radio waves to produce detailed pictures of the body. Brain MRI patterns can identify white-matter abnormalities and help narrow the diagnosis.
Multiple sclerosis: An immune-mediated disease in which inflammation damages myelin in the central nervous system. It can cause white-matter lesions but is acquired rather than an inherited leukodystrophy.
Oligodendrocyte: A central nervous system cell that forms myelin around axons. Inherited defects affecting these cells can impair white-matter development and upkeep.
Krabbe disease: An inherited disorder caused by deficient galactocerebrosidase, leading to toxic psychosine accumulation and demyelination. This leukodystrophy illustrates how a lysosomal enzyme defect can injure myelin-forming cells.
Hypomyelination: Abnormally low formation of myelin in the central nervous system. Some leukodystrophies begin with insufficient myelin rather than its later loss.
Genetic testing: Analysis of DNA to identify variants associated with a trait or disease. Testing can confirm a suspected leukodystrophy and support family counseling.
Leukoencephalopathy: A general term for disease affecting the brain’s white matter, regardless of cause. This broader category includes acquired white-matter disorders as well as inherited leukodystrophies.

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GliaRelated: Many leukodystrophies arise from defects in myelin or the cells that produce it.