Pearls & Oy-sters: Adolescent-onset adrenomyeloneuropathy and arrested cerebral adrenoleukodystrophy

Neurology. 2019 Jul 9;93(2):81-84. doi: 10.1212/WNL.0000000000007755.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1 / genetics
  • Adrenoleukodystrophy / complications
  • Adrenoleukodystrophy / diagnosis*
  • Adrenoleukodystrophy / physiopathology
  • Adrenoleukodystrophy / psychology
  • Attention Deficit Disorder with Hyperactivity / psychology
  • Autism Spectrum Disorder / psychology
  • Brain / diagnostic imaging*
  • Frameshift Mutation
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Muscle Spasticity / etiology
  • Muscle Spasticity / physiopathology
  • Paresis / etiology
  • Paresis / physiopathology
  • Young Adult

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1