Leukoencephalopathy with vanishing white matter
- 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 white matter (VWM) 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 in persons with VWM under stress. The disease is also known as childhood ataxia with central nervous system hypomyelinization.
Medical dictionary.
2011.
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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… … 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
EIF2B5 — Eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa, also known as EIF2B5, is a human gene.cite web | title = Entrez Gene: EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa| url =… … Wikipedia
EIF2B3 — Eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa, also known as EIF2B3, is a human gene.cite web | title = Entrez Gene: EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa| url =… … Wikipedia
EIF2B1 — Eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa, also known as EIF2B1, is a human gene.cite web | title = Entrez Gene: EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa| url =… … Wikipedia
EIF2B4 — Eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa, also known as EIF2B4, is a human gene.cite web | title = Entrez Gene: EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa| url =… … Wikipedia
EIF2B2 — Eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa, also known as EIF2B2, is a human gene.cite web | title = Entrez Gene: EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa| url =… … Wikipedia
