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

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Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy. / Guettsches, Anne-Katrin; Kuechler, Alma; Gal, Andreas; Schmitz, Werner; Tegenthoff, Martin; Vorgerd, Matthias.

In: J NEUROL, Vol. 257, No. 8, 8, 2010, p. 1394-1395.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Guettsches, A-K, Kuechler, A, Gal, A, Schmitz, W, Tegenthoff, M & Vorgerd, M 2010, 'Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.', J NEUROL, vol. 257, no. 8, 8, pp. 1394-1395. <http://www.ncbi.nlm.nih.gov/pubmed/20195870?dopt=Citation>

APA

Guettsches, A-K., Kuechler, A., Gal, A., Schmitz, W., Tegenthoff, M., & Vorgerd, M. (2010). Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy. J NEUROL, 257(8), 1394-1395. [8]. http://www.ncbi.nlm.nih.gov/pubmed/20195870?dopt=Citation

Vancouver

Guettsches A-K, Kuechler A, Gal A, Schmitz W, Tegenthoff M, Vorgerd M. Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy. J NEUROL. 2010;257(8):1394-1395. 8.

Bibtex

@article{523fc176f21347d9aedfafbfa65d4861,
title = "Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.",
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.",
author = "Anne-Katrin Guettsches and Alma Kuechler and Andreas Gal and Werner Schmitz and Martin Tegenthoff and Matthias Vorgerd",
year = "2010",
language = "Deutsch",
volume = "257",
pages = "1394--1395",
journal = "J NEUROL",
issn = "0340-5354",
publisher = "D. Steinkopff-Verlag",
number = "8",

}

RIS

TY - JOUR

T1 - Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.

AU - Guettsches, Anne-Katrin

AU - Kuechler, Alma

AU - Gal, Andreas

AU - Schmitz, Werner

AU - Tegenthoff, Martin

AU - Vorgerd, Matthias

PY - 2010

Y1 - 2010

N2 - 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.

AB - 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.

M3 - SCORING: Zeitschriftenaufsatz

VL - 257

SP - 1394

EP - 1395

JO - J NEUROL

JF - J NEUROL

SN - 0340-5354

IS - 8

M1 - 8

ER -