Leukodystrophies

Abstract

Hereditary disorders of myelin formation or its maintenance comprise the “leukodystrophies,'' a term derived from leuko “white” and dystroph “defective nutrition” (1). These disorders are characterized based on biological and pathologic features rather than a common clinical syndrome. We will apply the term to monogenic disorders primarily affecting myelin formation or its upkeep, although the nosology of leukodystrophies is more complex (2).