This chapter speaks about a 75-year-old woman admitted with a 4-year history of progressive social withdrawal, decreased fluency, and difficulty handling complex tasks. Magnetic Resonance Imaging (MRI) of the brain showed prominent mesencephalic atrophy, dilation of the third ventricle, and mild cerebral atrophy. Based upon her history and examination, the patient met National Institute of Neurological Disorders and Stroke - Society for Progressive Supranuclear Palsy (NINDS-SPSP) diagnostic criteria for probable Progressive Supranuclear Palsy (PSP). Available data showed that the diagnosis of PSP was pathologically confirmed in essentially 100% of patients who meet these criteria. The patient's motor function progressively worsened, and she died from respiratory complications, approximately 6 years following symptom onset. Progressive supranuclear palsy is a sporadic neurodegenerative disease, which is defined clinicopathologically by the constellation of atypical parkinsonism, supranuclear vertical gaze palsy, and a characteristic pattern of tau accumulation within the brainstem and basal ganglia.

The characteristic feature of Menkes disease (MD), as expressed in the human infant, is maldistribution of body copper. It is caused by mutation in ATP7A, a gene mapped to the long arm of the X-chromosome (Xq12-q13). This chapter focuses on pathology, clinical manifestations, diagnosis and treatment options for Menkes disease (MD). The clinical history and changes within the brain result from vascular lesions, copper deficiency, or a combination of the two. On angiographic or magnetic resonance (MR) angiographic studies reveal, a striking and progressive intracranial and extracranial vascular tortuosity is apparent. Similar changes are seen in the systemic vasculature. Aneurysms are not unusual. Neuroimaging discloses cerebral atrophy and bilateral ischemic lesions in deep gray matter, or in the cortical areas, the consequence of brain infarcts. Copper supplementation, using daily injections of copperhistidine, appears to be the most promising treatment.