Cerebellar Expression of Copper Chaperone for Superoxide CytosolicCu/Zn-Superoxide Dismutase 4-Hydroxy-2-Nonenal Acrolein and Heat Shock Protein 32 inPatients with Menkes Kinky Hair Disease: Immunohistochemical Study

摘要

BackgroundTo clarify the pathogenesis of cerebellar Purkinje cell death in patients with Menkes kinky hair disease (MD), a disorder of copper absorption, we investigated the morphological and functional abnormalities of residual Purkinje cells in MD patients and the mechanism of cell death.