Childhood ataxia with central nervous system hypomyelinization
- Childhood ataxia with central nervous system hypomyelinization
- An inherited brain disease that occurs mainly in children and follows a chronic progressive course with additional episodes of rapid deterioration following stress from febrile infection or minor head trauma. The disease is due to mutations in either of two genes — in either the EIF2B5 gene on chromosome 3q27 or the EIF2B2 gene on chromosome 14q24. These two genes encode the epsilon and beta subunits, respectively, of the translation initiation factor eIF2B. Since eIF2B plays an essential role in the regulation of translation under different conditions, including stress, this may explain the rapid deterioration under stress. The disease is also known as leukoencephalopathy with vanishing white matter (VWM).
Medical dictionary.
2011.
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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… … Wikipedia
Leukoencephalopathy with vanishing white matter — An inherited brain disease that occurs mainly in children. and follows a chronic progressive course with additional episodes of rapid deterioration following stress from febrile infection or minor head trauma. Leukoencephalopathy with vanishing… … Medical dictionary
VWM — Leukoencephalopathy with vanishing white matter, an inherited brain disease that occurs mainly in children. and follows a chronic progressive course with additional episodes of rapid deterioration following stress from febrile infection or minor… … Medical dictionary
