Oligosymptomatic Adrenomyeloneuropathy Due to a Novel Mutation in the ABCD1 Start Codon

J Neurol Sci. 2016 Aug 15;367:81-2. doi: 10.1016/j.jns.2016.05.047. Epub 2016 May 24.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / diagnostic imaging
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / physiopathology
  • Adult
  • Codon, Initiator*
  • Humans
  • Male
  • Mutation*
  • Paraparesis, Spastic / diagnostic imaging
  • Paraparesis, Spastic / genetics
  • Paraparesis, Spastic / physiopathology

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Codon, Initiator