Document Detail

Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.
MedLine Citation:
PMID:  20195870     Owner:  NLM     Status:  In-Process    
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.
Anne-Katrin Guettsches; Alma Kuechler; Andreas Gal; Werner Schmitz; Martin Tegenthoff; Matthias Vorgerd
Publication Detail:
Type:  Case Reports; Letter     Date:  2010-03-02
Journal Detail:
Title:  Journal of neurology     Volume:  257     ISSN:  1432-1459     ISO Abbreviation:  J. Neurol.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-07-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1394-5     Citation Subset:  IM    
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MeSH Terms
Erratum In:
J Neurol. 2010 Aug;257(8):1417

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