Literature DB >> 22699478

Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene.

Ibrahim Imam1, Jeremy Brown, Philip Lee, P K Thomas, Hadi Manji.   

Abstract

The authors present a 28-year-old lady with progressive neurological deterioration beginning in childhood. She had clinical, radiological and genetic features of ovarioleukodystrophy. This is part of the spectrum of vanishing white matter disease and the first such case reported in the UK. The authors also discuss the literature on the disease.

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Year:  2011        PMID： 22699478      PMCID： PMC3070385          DOI： 10.1136/bcr.11.2010.3552

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  12 in total

1.  Genotype-phenotype correlation in vanishing white matter disease.

Authors:  H D W van der Lei; C G M van Berkel; W N van Wieringen; C Brenner; A Feigenbaum; S Mercimek-Mahmutoglu; M Philippart; B Tatli; E Wassmer; G C Scheper; M S van der Knaap
Journal:  Neurology       Date:  2010-10-26       Impact factor: 9.910

2.  A new leukoencephalopathy with vanishing white matter.

Authors:  M S van der Knaap; P G Barth; F J Gabreëls; E Franzoni; J H Begeer; H Stroink; J J Rotteveel; J Valk
Journal:  Neurology       Date:  1997-04       Impact factor: 9.910

3.  The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27.

Authors:  P A Leegwater; A A Könst; B Kuyt; L A Sandkuijl; S Naidu; C B Oudejans; R B Schutgens; J C Pronk; M S van der Knaap
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

4.  Ovarian failure related to eukaryotic initiation factor 2B mutations.

Authors:  Anne Fogli; Diana Rodriguez; Eléonore Eymard-Pierre; Françoise Bouhour; Pierre Labauge; Brandon F Meaney; Susan Zeesman; Christine R Kaneski; Raphael Schiffmann; Odile Boespflug-Tanguy
Journal:  Am J Hum Genet       Date:  2003-04-21       Impact factor: 11.025

5.  Leukodystrophy in patients with ovarian dysgenesis.

Authors:  R Schiffmann; G Tedeschi; R P Kinkel; B D Trapp; J A Frank; C R Kaneski; R O Brady; N W Barton; L Nelson; J A Yanovski
Journal:  Ann Neurol       Date:  1997-05       Impact factor: 10.422

6.  Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis.

Authors:  J Verghese; K Weidenheim; S Malik; I Rapin
Journal:  Eur J Neurol       Date:  2002-11       Impact factor: 6.089

7.  Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

Authors:  P A Leegwater; G Vermeulen; A A Könst; S Naidu; J Mulders; A Visser; P Kersbergen; D Mobach; D Fonds; C G van Berkel; R J Lemmers; R R Frants; C B Oudejans; R B Schutgens; J C Pronk; M S van der Knaap
Journal:  Nat Genet       Date:  2001-12       Impact factor: 38.330

8.  Phenotypic variation in leukoencephalopathy with vanishing white matter.

Authors:  M S van der Knaap; W Kamphorst; P G Barth; C L Kraaijeveld; E Gut; J Valk
Journal:  Neurology       Date:  1998-08       Impact factor: 9.910

9.  The ovarioleukodystrophy.

Authors:  Stéphane Mathis; Gert C Scheper; Nicole Baumann; Elodie Petit; Roger Gil; Marjo S van der Knaap; Jean-Philippe Neau
Journal:  Clin Neurol Neurosurg       Date:  2008-08-03       Impact factor: 1.876

10.  "Vanishing white matter" and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype.

Authors:  E Boltshauser; P G Barth; D Troost; E Martin; T Stallmach
Journal:  Neuropediatrics       Date:  2002-04       Impact factor: 1.947
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  1 in total

1.  Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature.

Authors:  Fanxin Kong; Haotao Zheng; Xuan Liu; Songjun Lin; Jianjun Wang; Zhouke Guo
Journal:  Front Neurol       Date:  2022-06-16       Impact factor: 4.086
  1 in total

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