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Leukoencephalopathy with vanishing white matter presenting with presenile dementia
  1. J Gascon-Bayarri1,
  2. J Campdelacreu1,
  3. C Sánchez-Castañeda1,
  4. S Martínez-Yélamos1,
  5. M Moragas1,
  6. G C Scheper2,
  7. M S Van der Knaap2,
  8. Ramon Reñé1
  1. 1
    Unitat de Diagnòstic i Tractament de les Demències, Neurology Service, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Spain
  2. 2
    Department of Child Neurology, VU University Medical Centre, Amsterdam, The Netherlands
  1. Dr R Reñé, Unitat de Diagnòstic i Tractament de les Demències, Neurology Service, Hospital Universitari de Bellvitge, Feixa Llarga s/n, 08907 L’Hospitalet de Llobregat, Spain; ramonrenye{at}hotmail.com

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Vanishing white matter disease (VWM, OMIM #306896) is an autosomal recessive leukoencephalopathy typically of childhood onset. Patients usually present with progressive cerebellar ataxia and spasticity. MRI shows a diffuse leukoencephalopathy. Part of the abnormal cerebral white matter has the signal intensity of CSF on all pulse sequences, reflecting progressive disappearance of white matter, which is replaced by fluid. Five disease genes have been identified, EIF2B1-5, which encode the five subunits of translation initiation factor eIF2B, essential for translation of mRNA into protein.1 Adult onset cases have been described.24 The p.Arg113His mutation in EIF2B5 is the most frequent mutation both in children and adults and is usually associated with a relatively benign phenotype.2 We report a late onset case homozygous for the p.Arg113His mutation in EIF2B5, presenting with slowly progressive cognitive impairment with a neuropsychological profile of subcortical dementia.

Case report

A 55-year-old woman was referred to our dementia unit because of inability …

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