Pathogenetic Aspects of Brain Lesions in Wilson–Konovalov Disease

Abstract

The Wilson–Konovalov disease is the autosomal recessive hereditary disease caused by ATP7B gene mutation. With the mutations of the gene specified, the copper transport is disrupted, which causes its accumulation in the liver cells and neuroglia of the brain. The copper accumulation in the nervous tissue is observed in the period from the first to the fifth decade of life. In addition, this disease affects the metabolism of iron, which accumulates in the astrocytes and macrophages. The accumulation of these metals leads to the morphological changes in the glial cells, as follows: changes in the shape of astrocytes, formation of the transition types of microglia and increase in its size, and edema of the oligodendroglia, and in the severe cases, the decrease in the number of the neurons and destruction of the myelinated fibers.