Leukoencephalopathy: The Genetic Link with Vanishing White Matter
White matter and gray matter make up the different tissues in the brain, according to the University of Maryland Medical Center. The National Institutes of Health (NIH) notes that white matter contain nerve fibers, or axons; these are covered by myelin, a protein and fatty substance that gives white matter its color. Myelin insulates the axon, allowing for a quicker transmission of electrical signals down a neuron. One rare disorder, leukoencephalopathy, has genetic mutations that results in a destruction of myelin, or “vanishing white matter.”
The US National Library of Medicine states that the most common form of leukoencephalopathy with vanishing white matter has a childhood onset, meaning no symptoms present during infancy. Noticeable symptoms of leukoencephalopathy with vanishing white matter are motor symptoms, such as ataxia (problems coordinating movements) and spasticity (abnormal muscle stiffness); mental problems can also be present, though the US National Library of Medicine states this is not as severe as the motor symptoms). The United Leukodystrophy Foundation adds that lethargy, fever, seizures and eye problems are also possible; in severe cases, coma and death can occur.
In milder forms, symptoms can begin during adolescents or adulthood, with behavioral symptoms appearing first. Women who have a mild for of leukoencephalopathy with vanishing white matter can have a variation known as ovarioleukodystrophy, where there is ovarian dysfunction, such as ovarian dysgenesis (abnormal development of the ovaries).
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