Familial neuroaxonal dystrophy with principal lesions of nigro-pallido-subthalamic degeneration.

Clinico-neuropathological studies were conducted on three patients of a family with parkinsonism. The clinical features of these three cases included juvenile parkinsonism with subcortical dementia. Neuropathological changes observed in common were the simple degeneration of the substantia nigra, globus pallidus and subthalamic nucleus, spheroid bodies in the reticular zone of the substantia nigra, intracytoplasmic deposits of an eosinophilic substance in the nerve cells of the locus caeruleus and a swelling of nerve cells of the thalamus and brainstem nuclei. In one of the cases, electron microscopy of the locus caeruleus demonstrated dense bodies scattering within meshes of tubules in the cytoplasm of nerve cells. All these findings led to the conclusion that the pathologic diagnosis was identified as familial neuroaxonal dystrophy with the principal lesions of nigro-pallido-subthalamic degeneration.