Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion

Ann Neurol. 2002 Aug;52(2):234-7. doi: 10.1002/ana.10248.


An 8.5-year-old girl with a pathogenic mutation (515insC) of the ATP-binding cassette, subfamily D, member 1 gene (ABCD1) on her maternally derived X chromosome showed clinical, biochemical, and magnetic resonance imaging abnormalities similar to those in affected males. Cytogenetic studies led to the surprise finding of a de novo deletion of Xq27 on the paternally derived X chromosome. A bone marrow transplant had an apparently favorable effect. Cytogenetic studies should be performed in all severely symptomatic X-linked adrenoleukodystrophy heterozygotes.

Publication types

  • Case Reports

MeSH terms

  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / surgery
  • Bone Marrow Transplantation
  • Chemokine CCL22
  • Chemokines, CC / genetics*
  • Child
  • Cytogenetic Analysis
  • Female
  • Gene Deletion*
  • Humans
  • Treatment Outcome
  • X Chromosome / genetics


  • CCL22 protein, human
  • Chemokine CCL22
  • Chemokines, CC