Cerebral X‐linked adrenoleukodystrophy in a girl with Xq27‐Ter deletion
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.
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The fatal cerebral phenotype of X-ALD is extremely rare in females and probably only occurs when both alleles are affected.
“Indeed, the fatal cerebral phenotype of the disease is extremely rare in females and probably only occurs when both alleles are affected.4,87,88”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [87]
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- Authors
- Hershkovitz, E., Narkis, G., Shorer, Z., Moser, A. B., Watkins, P. A., Moser, H. W., & Manor, E.
- Affiliations
- Ben-Gurion University of the Negev (IL)
- Kennedy Krieger Institute (US)
- Corresponding author
- Hershkovitz, Eli
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2002-07-23
- Volume
- 52
- Issue
- 2
- Pages
- 234-237
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2089584879
- Cited by
- 30
- References
- 13
- Citations by year
- 2025: 1 · 2024: 3 · 2023: 1 · 2020: 2 · 2019: 1 · 2016: 1 · 2015: 1 · 2014: 1 · 2013: 4 · 2012: 1
- FWCI
- 1.53
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- X-linked adrenoleukodystrophy, cerebral adrenoleukodystrophy, ABCD1 gene, heterozygotes, bone marrow transplantation, cytogenetic diagnosis
- MeSH terms
- Adrenoleukodystrophy, Child, Female, Humans, X Chromosome, Bone Marrow Transplantation, Treatment Outcome, Gene Deletion, Chemokines, CC, Cytogenetic Analysis, Chemokine CCL22
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