Leukoencephalopathy with vanishing white matter

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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

Overview

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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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.



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