What is leukoencephalopathy?
Leukoencephalopathy is a group of progressive neurological disorders that affects the central nervous system (CNS). The white matter of the CNS deteriorates.
The onset of this disorder is typically during childhood, but in severe cases onset can be as early as infancy. If people have mild forms of the disorder, they may experience onset in adolescence or early adulthood.
What are the symptoms of leukoencephalopathy?
The progression of this disorder is characterized by periods of stability, followed by periods of quick decline. Stressors can trigger a period of decline, which can worsen already present symptoms or trigger new ones.
Symptoms of this disorder begin to present in childhood, as kids may develop motor skills, such as crawling and walking, at a delayed pace. They will have other motor symptoms, such as stiffness of the muscles and trouble with coordinating their movements. Children may also experience a deterioration of mental functioning, but it is not as pronounced as the motor symptoms.
This is a progressive disorder, so symptoms will worsen as time passes.
What causes leukoencephalopathy?
Multiple genes play a role in this disorder. The EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes are all responsible for one part of the eIF2B protein, which helps to regulate the overall protein production. A malfunction of this protein makes it difficult for the body to deal with changing conditions.
These mutations are passed down in an autosomal recessive pattern, meaning both parents must pass them down in order for the disorder to be present in the child.
How is leukoencephalopathy diagnosed?
A physical examination and the finding of characteristic symptoms should be conducted to find a diagnosis. Imaging tests, such as MRIs, will help to see the deterioration of white matter and will lead to a diagnosis of leukoencephalopathy. At times, MRIs can help bring a diagnosis before symptoms are obvious.
What are the treatments of leukoencephalopathy?
There are no cures for this condition; treatment is symptomatic. Depending on the form of leukoencephalopathy, there may be more specific treatments available.