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Leukoencephalopathy with Vanishing White Matter, EIF2B5 Related

  • What is Leukoencephalopathy with Vanishing White Matter, EIF2B5 Related?

    Leukoencephalopathy with Vanishing White Matter (VWM) is an inherited disorder that affects the function of the brain and spinal cord. It is caused by chronic and progressive vanishing of the white matter, which consists of nerve fibers protected by surrounding fatty substance known as myelin. Most children affected with VWM appear normal at birth and may have slightly delayed development of motor skills such as crawling or walking. Major onset of symptoms begins in early childhood with progressive muscle stiffness and lack of voluntary muscle control, leading to difficulties walking and swallowing. Seizures, vision impairment and some intellectual impairment may also occur. Life expectancy ranges from one to five years after onset of symptoms to many years after onset. Progression of VWM in individuals is especially sensitive to stresses such as infection, mild head trauma or other injury, or even extreme fright. Specific changes in the brain as seen using magnetic resonance imaging (MRI) are characteristic of VWM, and may be visible before the onset of symptoms. More severe forms of VWM are less commonly seen, with symptoms appearing before birth or within the first year of life. Deterioration of the nervous system is rapid and death typically occurs within a few months of life to age two years. Mild forms also exist, with symptoms not appearing until adolescence or adulthood. In these cases, behavioral or psychiatric problems appear before neurologic symptoms appear. Affected females of all types may have underdeveloped ovaries that ultimately lead to ovarian failure if they survive into adolescence or adulthood. There is no cure for VWM; however medical surveillance and care may help to improve some symptoms and overall condition of life. VWM is caused by pathogenic variants in one of five genes, EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5, among which the pathogenic variants in EIF2B5 are most common.

  • How is Leukoencephalopathy with Vanishing White Matter, EIF2B5 Related inherited?

    Leukoencephalopathy with Vanishing White Matter is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.

  • What does it mean to be a carrier?

    There are generally no signs or symptoms associated with being a carrier for VWM. However, the risk to have a child affected with VWM is increased. Testing of reproductive partners is recommended for carriers of VWM.

  • How common is Leukoencephalopathy with Vanishing White Matter, EIF2B5 Related?

    The occurence of VWM worldwide is unknown. Although it is a rare disorder, it is believed to be one of the most common inherited diseases that affect the white matter.

  • What is analysed?

    Full gene sequencing

AFFECTED SYSTEMS
Brain
Muscle
Eye
CARRIER RATES
Ethnicity Detection Rate Carrier Frequency
General Population > 99% 1 in 500