This report concerns an autopsy case of a peculiar neurodegenerative disorder associated with abnormal copper metabolism. The patient was a 46‐year‐old woman, who presented with dementia and ataxia, and who died after a progressive clinical course of approximately 19 months. The patient had marked hypocupremia and hypoceruloplasminemia. The neuropathological examination revealed: (1) neuronal loss with remarkable rarefaction of the neuropil of the mammillary body; (2) severe thalamic degeneration; (3) degeneration and softening of the olivary nucleus, accompanied by remarkable capillary proliferation; (4) coarse spongy state or vacuolization of the cerebral white matter, and (5) degeneration of Clarke's column. The cerebral cortex, basal ganglia, and cerebellar cortex were preserved; brain deposition of iron and copper was not detected. The liver showed congestion, parenchymal atrophy and iron deposition, but neither copper deposition nor cirrhotic changes. Although the clinical features of patients with neurological disorders associated with abnormal copper metabolism, but distinct from both Wilson's disease and Menkes' kinky hair disease have been described, no autopsy case report has been published to date. It is of particular interest that the subnuclear distribution pattern of the thalamic lesion and the isolated degeneration of Clarke's column and the posterior spinocerebellar tract of the spinal cord of the present patient closely resembled the lesions in Menkes' kinky hair dise