FAMILIAL PROGRESSIVE SUPRANUCLEAR PALSY

Progressive supranuclear palsy (PSP) is a degenerative neurological di sease not typically associated with a family history. Two siblings dev eloped identical clinical features consisting of supranuclear vertical ophthalmoplegia, bradykinesia, rigidity, gait disturbance, and dement ia. There was no history of encephalitis or of exposure to known chemi cals. L-dopa and dopamine agonist therapy were minimally effective. Au topsy of 1 patient revealed the typical pathological findings of PSP: severe neuronal loss with neurofibrillary tangles (NFTs) in the substa ntia nigra, subthalamic nucleus, and locus ceruleus. Prominent neurofi brillary degeneration of the amygdaloid nucleus and hippocampus was al so observed. Scattered neurofibrillary tangles were seen in the cerebr al cortices. Cerebellar degeneration was characterized by a loss of ne urons in the dentate nucleus associated with neurofibrillary tangles. Lewy bodies and cortical neuritic plaques were notably absent. The exi stence of a rare familial form of PSP is supported by these 2 siblings .