Erratum to: Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy
Journal of Neurology(2010)
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.
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关键词
Adrenoleukodystrophy,Myelopathy,Spastic paraparesis,ABCD1
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