A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation

Neurology. 2012 Nov 13;79(20):2077-8. doi: 10.1212/WNL.0b013e3182749edc. Epub 2012 Oct 31.

Abstract

Vanishing white matter (VWM; OMIM # 603896) is one of the most prevalent inherited childhood leukoencephalopathies. It has, however, become evident that VWM has a wider clinical spectrum, with age at onset inversely related to clinical severity. Many affected women experience a combination of leukoencephalopathy and primary amenorrhea or premature ovarian failure, a condition named ovarioleukodystrophy. Mutations in any of the genes encoding the 5 subunits of the Eukaryotic Initiation Factor 2B gene (EIF2B1, 2, 3, 4, and 5) can independently cause VWM.(1).

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Alanine / genetics*
  • Eukaryotic Initiation Factor-2B / genetics*
  • Female
  • Humans
  • Leukoencephalopathies / genetics*
  • Mutation / genetics*
  • Valine / genetics*

Substances

  • Eukaryotic Initiation Factor-2B
  • Valine
  • Alanine