Literature DB >> 20195870

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.   

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.

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Year:  2010        PMID： 20195870     DOI： 10.1007/s00415-010-5505-8

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  8 in total

1.  Phenotypes of female adrenoleukodystrophy.

Authors:  H H Jung; I Wimplinger; S Jung; K Landau; A Gal; F L Heppner
Journal:  Neurology       Date:  2007-03-20       Impact factor: 9.910

2.  Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999.

Authors:  Charles Peters; Lawrence R Charnas; Ye Tan; Richard S Ziegler; Elsa G Shapiro; Todd DeFor; Satkiran S Grewal; Paul J Orchard; Susan L Abel; Anne I Goldman; Norma K C Ramsay; Kathryn E Dusenbery; Daniel J Loes; Lawrence A Lockman; Shunichi Kato; Patrick R Aubourg; Hugo W Moser; William Krivit
Journal:  Blood       Date:  2004-04-08       Impact factor: 22.113

3.  Hexacosanoic and docosanoic acids plasma levels in patients with cerebral childhood and asymptomatic X-linked adrenoleukodystrophy: Lorenzo's oil effect.

Authors:  Marion Deon; Mariana Pires Garcia; Angela Sitta; Alethéa G Barschak; Daniella M Coelho; Graziela O Schimit; Maiara Pigatto; Laura B Jardim; Moacir Wajner; Roberto Giugliani; Carmen R Vargas
Journal:  Metab Brain Dis       Date:  2007-11-17       Impact factor: 3.584

4.  Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.

Authors:  J Mosser; A M Douar; C O Sarde; P Kioschis; R Feil; H Moser; A M Poustka; J L Mandel; P Aubourg
Journal:  Nature       Date:  1993-02-25       Impact factor: 49.962

5.  Genomic organization of the adrenoleukodystrophy gene.

Authors:  C O Sarde; J Mosser; P Kioschis; C Kretz; S Vicaire; P Aubourg; A Poustka; J L Mandel
Journal:  Genomics       Date:  1994-07-01       Impact factor: 5.736

Review 6.  Therapy of X-linked adrenoleukodystrophy.

Authors:  Alexander Semmler; Wolfgang Köhler; Hans H Jung; Michael Weller; Michael Linnebank
Journal:  Expert Rev Neurother       Date:  2008-09       Impact factor: 4.618

Review 7.  Progress in X-linked adrenoleukodystrophy.

Authors:  Hugo Moser; Prachi Dubey; Ali Fatemi
Journal:  Curr Opin Neurol       Date:  2004-06       Impact factor: 5.710

Review 8.  X-linked adrenoleukodystrophy.

Authors:  Hugo W Moser; Asif Mahmood; Gerald V Raymond
Journal:  Nat Clin Pract Neurol       Date:  2007-03
  8 in total

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