A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 23115207.
- Also identified by DOI 10.1212/WNL.0b013e3182749edc.
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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).
Medical subject headings
- Alanine
- Eukaryotic Initiation Factor-2B
- Leukoencephalopathies
- Mutation
- Valine