Vanishing White Matter Disease (VWM)

Vanishing White Matter (VWM) NIH.pdf
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Vanishing White Matter Disease (VWM) also known as Childhood Ataxia with Central Nervous System Hypomyelination (CACH) is an unconventional as well as and very damaging disease. It is an extraordinarily rare disease only affecting 300 people worldwide.  VWM is a type of Leukoaraiosis .Leukoaraiosis is a white matter diesease. Leukoaraiosis is when there is abnormal change in white matter.During VWM destroyed the Myelin of the axons of the neurons also known as the brain’s white matter. There is no cure for VWM and children with VWM only live to about 2-8 years old. The disease worsens as it progresses. VWM lead to a loss of white matter in the brain and eventually death, VWM is caused by genetics. It is recessive genetic disease. This leads to many people being carriers of VWM without realizing it. VWM is caused by mutations in EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5 genes. These genes create a protein known as eIF2B. The mutation causes there to be a lack of eIF2B causing VWM. ​

Image Source: https://www.huntershope.org/family-care/leukodystrophies/vanishing-white-matter
The Image above shows how VWM can get carried from one generation to the next. As seen in the image above the offspring have a great chance that they will be carrier of the disease.

ImageSource:https://www.researchgate.net/figure/CT-and-T2-weighted-MRI-showing-leukoaraiosis-at-different-stages-of-severity_fig1_51902532
The Image above shows diffrent brain images for different stages of Leukoraraiosis. It is recorded using 3 diffrent brain imaging tecniques.