Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy.
case_series · Level IV
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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.
Medical subject headings
- Adrenoleukodystrophy
- Brain
- Magnetic Resonance Imaging