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Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy

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An Erratum to this article was published on 13 April 2010

Abstract

Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) are allelic X-chromosomal disorders of peroxisomal lipid metabolism due to mutations of the ABCD1-gene, leading, respectively, to leukoencephalopathy or myeloneuropathy in male patients. We report a family with two symptomatic carriers in subsequent generations who both suffer from symptoms of an AMN. In both patients, molecular genetic testing revealed a heterozygous c.1552C>T-transition (p.Arg518Trp) in exon 6 of ABCD1. Our observations underline the importance of identifying such symptomatic ALD carriers.

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Authors and Affiliations

  1. Department of Neurology, University Clinic Bergmannsheil, Ruhr-University Bochum, Buerkle-de-la-Camp-Platz 1, 44789, Bochum, Germany

    Anne-Katrin Guettsches, Martin Tegenthoff & Matthias Vorgerd

  2. Institute of Human Genetics, University Hospital Essen, Essen, Germany

    Alma Kuechler

  3. Institute of Human Genetics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany

    Andreas Gal

  4. Theodor-Boveri Insitute for Biotechnology, University of Wuerzburg, Wuerzburg, Germany

    Werner Schmitz

Authors
  1. Anne-Katrin Guettsches
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  2. Alma Kuechler
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  3. Andreas Gal
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  4. Werner Schmitz
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  5. Martin Tegenthoff
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  6. Matthias Vorgerd
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Corresponding author

Correspondence to Anne-Katrin Guettsches.

Additional information

An erratum to this article can be found at http://dx.doi.org/10.1007/s00415-010-5562-z

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Guettsches, AK., Kuechler, A., Gal, A. et al. Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy. J Neurol 257, 1394–1395 (2010). https://doi.org/10.1007/s00415-010-5505-8

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  • DOI: https://doi.org/10.1007/s00415-010-5505-8

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