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.

journal_name

J Neurol

journal_title

Journal of neurology

authors

Guettsches AK,Kuechler A,Gal A,Schmitz W,Tegenthoff M,Vorgerd M

doi

10.1007/s00415-010-5505-8

subject

Has Abstract

pub_date

2010-08-01 00:00:00

pages

1394-5

issue

8

eissn

0340-5354

issn

1432-1459

journal_volume

257

pub_type

信件
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