Vanishing White Matter Disease - United Leukodystrophy Foundation
Vanishing White Matter Disease (VWM) is a genetic disorder that affects the nervous system and causes neurologic symptoms. Although initially recognized as a disease of young children, it is now known that the disease has a highly variable course with a wide range in severity.
Vanishing white matter disease - UpToDate
2024年5月15日 · VWM disease is a chronic and progressive white matter disorder (leukodystrophy) characterized by a variable phenotype, typically with prominent ataxia and spasticity in the classic form. VWM is often exacerbated by infection, head …
Leukoencephalopathy with vanishing white matter - Wikipedia
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.
Vanishing White Matter Disease | UPMC Children’s-Pittsburgh
Vanishing white matter (VWM) disease is an inherited condition caused by a faulty gene. Children with VWM disease have a defective protein that prevents the body from making enough myelin. Myelin is a white, fatty substance that covers nerve fibers in …
White matter disease: Prognosis, symptoms, and treatment
2024年1月30日 · Vanishing white matter disease This is a rare inherited condition that can develop during childhood. It is characterized by early childhood onset of chronic neurological deterioration.
Vanishing white matter disease | Radiology Reference Article ...
2024年7月4日 · Vanishing white matter disease (VWM), also known as childhood ataxia with central hypomyelination (CACH), is a rare, genetic leukoencephalopathy due to mutations in EIF2B subunit mutations, typically appearing as extensive white …
White Matter Disease: What It Is, Symptoms & Treatment - Cleveland Clinic
2022年5月4日 · White matter disease is an umbrella term for damage to your brain’s white matter caused by reduced blood flow to the tissue. It can cause issues with memory, balance and mobility. People who have risk factors for cardiovascular disease also have a greater risk of developing white matter disease.
Vanishing White Matter Disease - Kennedy Krieger Institute
Vanishing white matter disease (VWM) is a rare autosomal recessive leukodystrophy, which means both copies of the affected gene in each cell have mutations.
vanishing white matter disease or VWMD)— a disorder characterized by ataxia, muscle stifness (spasticity), and damage to the optic nerve (optic atrophy). It is caused by mutations in any of the 5 genes that make the protein eukaryotic initiation factor 2B (eIF2B), which helps regulate protein synthesis, a process that
Childhood Ataxia with Central Nervous System Hypomyelination ...
2003年2月20日 · Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism.