Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy

Neurology. 1992 Jan;42(1):85-91. doi: 10.1212/wnl.42.1.85.

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

  • Addison Disease / complications
  • Adolescent
  • Adrenoleukodystrophy / diagnosis
  • Adrenoleukodystrophy / genetics
  • Adrenoleukodystrophy / physiopathology*
  • Adult
  • Brain / pathology*
  • Demyelinating Diseases / diagnosis
  • Evoked Potentials
  • Follow-Up Studies
  • Genetic Linkage
  • Humans
  • Magnetic Resonance Imaging*
  • Middle Aged
  • Nervous System / physiopathology
  • Neural Conduction
  • Peripheral Nerves / physiopathology
  • Phenotype
  • Spinal Cord / pathology
  • X Chromosome