Abstract
We describe the neurophysiologic abnormalities in 17 patients with clinical adrenomyeloneuropathy (AMN), an adult phenotype of X-linked adrenoleukodystrophy (ALD). These abnormalities also allowed the early recognition of the AMN phenotype in three asymptomatic boys with biochemically proven ALD. In 14/16 adult AMN patients, there were cerebral white matter abnormalities on MRI which were severe and comparable with cerebral ALD in four of the patients.
MeSH terms
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Addison Disease / complications
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Adolescent
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Adrenoleukodystrophy / diagnosis
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Adrenoleukodystrophy / genetics
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Adrenoleukodystrophy / physiopathology*
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Adult
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Brain / pathology*
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Demyelinating Diseases / diagnosis
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Evoked Potentials
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Follow-Up Studies
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Genetic Linkage
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Humans
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Magnetic Resonance Imaging*
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Middle Aged
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Nervous System / physiopathology
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Neural Conduction
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Peripheral Nerves / physiopathology
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Phenotype
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Spinal Cord / pathology
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X Chromosome