Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy (vol 257, pg 1394, 2010)

被引：0

作者：

Guettsches, Anne-Katrin ^{[1
]}

Kuechler, Alma ^{[2
]}

Gal, Andreas ^{[3
]}

Schmitz, Werner ^{[4
]}

Tegenthoff, Martin ^{[1
]}

Vorgerd, Matthias ^{[1
]}

机构：

[1] Ruhr Univ Bochum, Dept Neurol, Univ Clin Bergmannsheil, D-44789 Bochum, Germany

[2] Univ Hosp Essen, Inst Human Genet, Essen, Germany

[3] Univ Med Ctr, Inst Human Genet, Hamburg, Germany

[4] Univ Wurzburg, Theodor Boveri Inst Biotechnol, Wurzburg, Germany

来源：

JOURNAL OF NEUROLOGY | 2010年 / 257卷 / 08期

关键词：

ABCD1; Adrenoleukodystrophy; Myelopathy; Spastic paraparesis;

D O I：

10.1007/s00415-010-5562-z

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1417 / 1417

页数：1

共 3 条

[1] Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy
Anne-Katrin Guettsches
Alma Kuechler
Andreas Gal
Werner Schmitz
Martin Tegenthoff
Matthias Vorgerd
Journal of Neurology, 2010, 257 : 1394 - 1395
[2] Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis (vol 440, pg 214, 2015)
Kostalova, Eva
Pavelka, Karel
Vlaskova, Hana
Musalkova, Dita
Stiburkova, Blanka
CLINICA CHIMICA ACTA, 2015, 447 : 121 - 121
[3] Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree (vol 207, pg 1104, 1999)
Brown, J
Kimura, AE
Gorin, MB
OPHTHALMOLOGY, 2000, 107 (08) : 1440 - 1440

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