Leukoencephalopathy with vanishing white matter

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 EIF-2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5.

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

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

See also

• CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)
• Progressive multifocal leukoencephalopathy
• Metachromatic leukodystrophy

References

External links

• Leukoencephalopathy with vanishing white matter