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

Eli Hershkovitz, Ginat Narkis, Zamir Shorer, Ann B. Moser, Paul A. Watkins, Hugo W. Moser, Esther Manor

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)234-237
Number of pages4
JournalAnnals of neurology
Volume52
Issue number2
DOIs
StatePublished - Aug 5 2002

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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