Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter

Neurology. 2004 Jan 27;62(2):323-6. doi: 10.1212/01.wnl.0000103292.72400.b7.

Abstract

This is a multiparametric MR study of the first reported patient with adult-onset genetically confirmed vanishing white matter (VWM) disease. It shows that, despite the presence of a severe and diffuse damage of the brain WM, brain gray matter, and cervical cord tissue, the cortical adaptive capacities were relatively preserved. Interpatient variability of brain plasticity may contribute to the known phenotypic variation of patients with VWM disease.

Publication types

  • Case Reports

MeSH terms

  • Basal Ganglia / pathology
  • Brain / pathology*
  • Brain / physiopathology
  • Brain Diseases / genetics
  • Brain Diseases / pathology*
  • Brain Mapping
  • Eukaryotic Initiation Factor-2B / genetics
  • Female
  • Genes, Recessive
  • Heredodegenerative Disorders, Nervous System / pathology*
  • Humans
  • Magnetic Resonance Imaging / methods*
  • Middle Aged
  • Mutation, Missense
  • Psychomotor Performance

Substances

  • Eukaryotic Initiation Factor-2B