Leukoencephalopathy with vanishing white matter

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Leukoencephalopathy with vanishing white matter
Classification and external resources
OMIM 603896


Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5.

Adult-onset VWM disease can present with psychosis and may be hard to differentiate from schizophrenia.[1]

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[edit] Synonyms

  • childhood ataxia with central nervous system hypomyelinization; CACH
  • vanishing white matter leukodystrophy
  • cree leukoencephalopathy; CLE
  • vanishing white matter leukodystrophy with ovarian failure, included
  • ovarioleukodystrophy, included

[edit] See also

[edit] References

  1. ^ Denier C, Orgibet A, Roffi F, Jouvent E, Buhl C, Niel F, Boespflug-Tanguy O, Said G, Ducreux D (2007). "Adult-onset vanishing white matter leukoencephalopathy presenting as psychosis". Neurology 68 (18): 1538–9. doi:10.1212/01.wnl.0000260701.76868.44. PMID 17470759. 

[edit] External links