The Leukodystrophies

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Abstract
The leukodystrophies are a group of genetically transmitted diseases in which abnormal metabolism of myelin constituents leads to progressive demyelination. Even though none of these disorders are common, the physician confronted by a child or an adult with dementia would do well to remember them. Several of them have a biochemical marker; others require pathological examination of central or peripheral myelin for diagnosis. The clinical picture common to the leukodystrophies is one of progressive dementia and long-tract dysfunction, manifested by spasticity, cerebellar deficits, and abnormalities in the visual and somatosensory afferent pathways. Neuroimaging studies reveal extensive demyelination.1 The following entities . . .