Neuropathology is the study of diseases of the eyes and of the nervous system, which includes the: Brain, Spinal cord, Body's extensive nerve network. Neuropathology
plays a key role in characterizing the pathogenesis
of neurodegenerative diseases
including forms of neurodegeneration with brain iron accumulation (NBIA). Despite important differences, several genetically diverse forms of NBIA nevertheless share common features in addition to iron deposition, such as the presence of neuroaxonal spheroids. Multiple forms of NBIA also demonstrate tau or synuclein pathology, suggesting parallels with both Alzheimer
and Parkinson diseases. This chapter summarizes what has been learned from the study of human patient tissues. Gross and microscopic findings are delineated, and similarities and differences between forms of NBIA are presented. Neuropathologic findings often help characterize fundamental features of disease and provide a springboard for more focused hypothesis-driven studies. Lessons learned from neuropathology
thus contribute much to the characterization of the molecular mechanisms of disease.