Leukodystrophies

The best known genetic cerebral white matter disorders are the leukodystrophies, a group of inherited diseases that disturb myelin metabolism and lead to severe neurologic dysfunction and early death. These diseases have been termed "dysmyelinative" because

Figure 4 MRI scan of a patient with metachromatic leukodystrophy. There is severe and diffuse dysmyelination of the cerebral white matter (reprinted with permission from Neuropsychiatr. Neuropsy-chol. Behav. Neurol. 6, 142, 1993).

of the metabolic dysfunction that prevents the normal myelination of the nervous system. The leukodystro-phies usually present in early life and have an irreversibly progressive course. The most common of these is metachromatic leukodystrophy (MLD), an autosomal-recessive disease characterized by deficiency of the enzyme aryl sulfatase A; this defect leads to an accumulation of sulfatide in myelin, from which clinical deficits arise. Manifestations of MLD include mental retardation, dementia, spasticity, visual loss, and peripheral neuropathy, and in adults psychosis has been frequently observed. MRI is helpful in identifying the leukodystrophy, which is diffuse and severe (Fig. 4). Leukodystrophies are typically autosomal recessive; an exception is the X-linked disease adrenoleukodystro-phy. Treatment has been supportive, since medical interventions have been largely unsuccessful. Recent studies of bone marrow transplantation with hemato-poeitic stem cells, however, have shown promising results in MLD and globoid cell leukodystrophy.

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