The Macular Mutant Mouse as a Model of Menkes' Kinky Hair Disease and Pathology on Its Cerebellar Purkinje Cell

Abstract

The macular mutant mouse is well known as a model of Menkes kinky hair disease (MKHD). This paper was presented to elucidate the pathogenesis of cerebellar Purkinje cell abnormalities of MKHD using this model mouse. The neuropathological changes on the Purkinje cells of this mouse were composed of somal sprout, somal spine, focal dendritic swelling, delay of arborization, abnormal mitochondria, abnormal inclusions, and low cytochrome c oxidase activity. Most of them were improved in the hemizygote treated with cupric chloride. These abnormal Purkinje cells were not distributed in a mosaic pattern in the cerebellum of the heterozygote. Hence, most of them resulted from copper deficiency in the cerebellum, and not from gene abnormality in the Purkinje cell.