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

doi:10.1002/ana.10248

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 journal › Article › peer-review

19 Scopus citations

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
Pages (from-to)	234-237
Number of pages	4
Journal	Annals of Neurology
Volume	52
Issue number	2
DOIs	https://doi.org/10.1002/ana.10248
State	Published - 5 Aug 2002

ASJC Scopus subject areas

Neurology
Clinical Neurology

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title = "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.",

author = "Eli Hershkovitz and Ginat Narkis and Zamir Shorer and Moser, \{Ann B.\} and Watkins, \{Paul A.\} and Moser, \{Hugo W.\} and Esther Manor",

year = "2002",

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AU - Hershkovitz, Eli

AU - Narkis, Ginat

AU - Shorer, Zamir

AU - Moser, Ann B.

AU - Watkins, Paul A.

AU - Moser, Hugo W.

AU - Manor, Esther

PY - 2002/8/5

Y1 - 2002/8/5

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/0036329702

U2 - 10.1002/ana.10248

DO - 10.1002/ana.10248

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JO - Annals of Neurology

JF - Annals of Neurology

IS - 2

ER -

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

Abstract

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