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 language | English (US) |
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Pages (from-to) | 234-237 |
Number of pages | 4 |
Journal | Annals of neurology |
Volume | 52 |
Issue number | 2 |
DOIs | |
State | Published - 2002 |
ASJC Scopus subject areas
- Neurology
- Clinical Neurology