Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5

Neurology. 2004 May 11;62(9):1601-3. doi: 10.1212/01.wnl.0000123117.11264.0e.

Abstract

We report of a woman aged 52 years born to consanguineous parents and seeking treatment for progressive dementia and delusion. Neurologic examination revealed dementia and emotional instability, indifference, and confabulation. There was also mild spasticity of the bilateral lower limbs. MRI revealed diffuse white matter hyperintensity on T2-weighted images accompanied by hypointense areas on fluid-attenuated inversion recovery images. A homozygous missense mutation was identified in EIF2B5.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Brain / metabolism
  • Brain / pathology
  • Creatine / metabolism
  • DNA Mutational Analysis
  • Demyelinating Diseases / diagnosis
  • Demyelinating Diseases / genetics*
  • Demyelinating Diseases / metabolism
  • Eukaryotic Initiation Factor-2B / genetics*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Middle Aged
  • Mutation, Missense / genetics*
  • Phosphocreatine / metabolism
  • Sequence Analysis, DNA

Substances

  • Eukaryotic Initiation Factor-2B
  • Phosphocreatine
  • Creatine