Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation

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Abstract
X-LINKED adrenoleukodystrophy is an inherited peroxisomal disease caused by a defective gene located within the Xq28 region of the X chromosome.1 Childhood adrenoleukodystrophy is characterized by multifocal demyelination of the central nervous system and adrenal insufficiency.2 It is associated with an impairment of the degradation of saturated very-long-chain fatty acids.3 4 5 These fatty acids accumulate in the cholesterol ester and ganglioside fractions of the patients' white matter and adrenal cortex,2 as well as in plasma and red cells,6 providing biochemical clues to the diagnosis of the disease. Adrenoleukodystrophy has a wide phenotypic variation, but most cases appear in childhood or adolescence as devastating degenerative disorders leading to major neurologic deterioration and death within a few years.2

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