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The childhood cerebral form of adrenoleukodystrophy (ALD) is a fatal demyelinating disease, yet mice deficient in the ALD gene do not show such clinicopathological phenotype. We have therefore investigated in human autopsy tissues whether the ALD gene mutation results in apoptosis of CNS cells. Specimens from telencephalic and brainstem regions of four patients, and three controls were examined for...
Adrenoleukodystrophy (ALD) is caused by mutations in an ATP-binding-cassette transporter located in the peroxisomal membrane, which result in a fatal demyelinating disease in boys and a milder phenotype in men and some heterozygous women. There is no molecular signature to indicate a particular clinical course. The underlying molecular mechanisms of this disease have yet to be targeted clinically...
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