Neuropathology of chromosome-17-linked dementia

We describe the characteristic neuropathologic changes in chromosome-17-linked dementia. Identified cases to date demonstrate a uniform pathology consisting of neuronal loss, gliosis and vacuolization of frontal, anterior cingulate and temporal cortex and occipital association areas. Similar changes are present in substantia nigra, ventral striatum and amygdala. Hippocampus itself is spared, whereas the afferent perforant tract is consistently affected. Characteristic neuronal inclusions consisting of lattice-like neurofilaments are present in subcortical nuclei and glial cytoplasmic tau-positive inclusions are present throughout the white matter. These pathologic changes appear to be unique for chromosome-17-linked dementia.