Literature DB >> 15912409

MRI of a family with leukoencephalypathy with vanishing white matter.

Elzbieta Jurkiewicz1, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Iwona Pakua-Kościesza, Tomasz Kmieć, Gert Scheper, Marjo S van der Knaap, Ewa Pronicka.   

Abstract

Leukoencephalopathy with vanishing white matter (VWM) is a newly described entity with characteristic MRI features. We report the cranial MRI findings in three sisters with slowly progressive neurological deterioration. The MRI showed symmetrical diffuse abnormalities of cerebral white matter with hypointensity on FLAIR images. The diagnosis of leukoencephalopathy with VWM was made on the basis of genetic analysis.

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Year:  2005        PMID： 15912409     DOI： 10.1007/s00247-005-1498-3

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  9 in total

1.  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

2.  Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach.

Authors:  M S van der Knaap; S N Breiter; S Naidu; A A Hart; J Valk
Journal:  Radiology       Date:  1999-10       Impact factor: 11.105

3.  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

4.  Leukoencephalopathy with vanishing white matter: report of four cases from three unrelated Brazilian families.

Authors:  Sergio Rosemberg; Claudia da Costa Leite; Fernando Norio Arita; Suzana Ely Kliemann; Maria Teresa Carvalho Lacerda
Journal:  Brain Dev       Date:  2002-06       Impact factor: 1.961

5.  Lhermitte-Duclos disease: assessment with MR imaging, positron emission tomography, single-photon emission CT, and MR spectroscopy.

Authors:  J Klisch; F Juengling; J Spreer; D Koch; T Thiel; M Büchert; S Arnold; F Feuerhake; M Schumacher
Journal:  AJNR Am J Neuroradiol       Date:  2001-05       Impact factor: 3.825

6.  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

7.  Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.

Authors:  Marjo S van der Knaap; Peter A J Leegwater; Andrea A M Könst; Allerdien Visser; Sakkubai Naidu; Cees B M Oudejans; Ruud B H Schutgens; Jan C Pronk
Journal:  Ann Neurol       Date:  2002-02       Impact factor: 10.422

8.  Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy.

Authors:  F Hanefeld; U Holzbach; B Kruse; E Wilichowski; H J Christen; J Frahm
Journal:  Neuropediatrics       Date:  1993-10       Impact factor: 1.947

Review 9.  Potential role of magnetic resonance spectroscopy in assessment of tumour response in childhood cancer.

Authors:  S J Vaidya; Geoffrey S Payne; Martin O Leach; C R Pinkerton
Journal:  Eur J Cancer       Date:  2003-04       Impact factor: 9.162
  9 in total
  1 in total

1.  Late onset vanishing white matter disease.

Authors:  Axel Riecker; Thomas Nägele; Marco Henneke; Ludger Schöls
Journal:  J Neurol       Date:  2007-03-31       Impact factor: 4.849
  1 in total

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