Leukodystrophy

Leukodystrophy represents a group of genetically determined diseases that are manifested by morphological changes in the white matter of the central nervous system.

The cause of leukodystrophies turns out to be defects in the genes that code for various enzymes, the deficiency of which results in a metabolic disorder affecting myelin (e.g. impaired peroxisome function or a defect in the metabolism of sphingolipids).The basic characteristic of this group of diseases is myelin dysfunction. Myelin can be damaged either in the sense of demyelination, i.e. loss of normally formed myelin, or dysmyelination, i.e. loss of damaged myelin. Simple demyelination is typical of Sudanophilic leukodystrophies (X-ALD, Pelizaeus-Merzbacher disease). In dysmyelination, abnormal lipids are deposited in the myelin sheath, which is defective, and is manifested by metachromasia (metachromatic leukodystrophy) when stained).

Leukodystrophies are the focus of several organizations, including the United Leukodystrophy Foundation, The Myelin Project and last but not least, the Stennis Foundation for Leukodystrophies.

Overview of leukodystrophies

 * Pelizaeus-Merzbacher disease
 * Cockayne syndrome
 * Alexander's disease
 * Canavan disease
 * Krabbe's disease
 * Metachromatic leukodystrophy
 * Peroxisomal leukodystrophy - adrenoleukodystrophy  (ALD) – is manifested by progressive damage not only to the brain but also to the adrenal glands.
 * 1) X-linked ALD (X-ALD)
 * 2) Neonatal ALD – (autosomal recessive)
 * 3) Refsum's Disease
 * 4) Zellweger Syndrome

Related Articles

 * Peroxisomal disease
 * Peroxisomal leukodystrophy
 * X-linked adrenoleukodystrophy