Vanishing White Matter (VWM) is a disease of the central nervous system often diagnosed in early childhood. It is caused by a genetic mutation in one of five genes. Changes in these genes can occur sporadically, due to very high fever, head injury, or infection. VWM can be hereditary and may run in families.
Scientists have identified the genes that must be affected to cause Vanishing White Matter. When grouped together, these genes are known as eukaryotic initiation factor 2B (eIF2B). The most commonly affected gene is the eIF2B5 gene. When a change occurs in this gene, it can no longer make proteins correctly. While the mutation is a result of genetic factors, it can be accelerated or influenced by specific events that impact the brain.
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The progression of Vanishing White Matter is typically quite slow, but certain events can exacerbate the condition and increase the speed at which mutations occur. High fevers that result from infections are the primary cause of such accelerations. In addition, head trauma can initiate a fast deterioration in a patient's function. Even minor head injuries can be significant in a patient with this disorder.
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Vanishing White Matter disorder causes disintegration of the brain's white matter, which is a collection of nerve fibers covered by a fatty insulator known as myelin. In individuals with VWM, cells in the white matter are particularly sensitive to stress and hormonal changes in the body. As deterioration increases, the symptoms of the disorder become more apparent.
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If the change in the eIF2B gene is significant, motor and neurological function will be impacted. This loss of function is the hallmark of Vanishing White Matter disease. The child may experience seizures, regular fevers, stiff muscles, and extreme fatigue. In addition, he or she may lose coordination, develop eye problems, and have difficulty with cognitive functions and speech production. Ultimately, VWM will lead to coma and death, typically resulting from high fever.
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The severity of the disease can vary greatly from person to person. Some children exhibit symptoms in infancy, while others develop typically until later childhood. The problems with movement are typically far more severe than the issues with cognition, and there can be long periods of steady development where no decline occurs. Life expectancy ranges from a few years to the mid 40s. While there is no cure for VWM, treatments focus on alleviating the many symptoms of the condition and preventing dangerous fevers.