Progressive supranuclear palsy: A heterogeneous degeneration involving the brain stem, basal ganglia and cerebellum with vertical gaze and pseudobulbar palsy, nuchal dystonia and dementia

摘要

We have described nine patients who displayed an unusual progressive neurological disorder with ocular, motor, and mental features. The clinical picture was characterized by supranuclear ophthalmoplegia, particularly of downward gaze, pseudobulbar palsy, dysarthria, dystonic rigidity of the neck and upper trunk, and dementia. There were less constant cerebellar and pyramidal symptoms. Commonly, the disease started in the sixth decade and led to death within several years. Seven patients have died. Pathological investigation showed the presence of cell loss, gliosis, neurofibrillary tangles, granulovacuolar degeneration and demyelination in various regions of the basal ganglia, brain stem, and cerebellum. The most severely affected areas included the globus pallidus, subthalamic nucleus, red nucleus, substantia nigra, superior colliculi, nuclei cuneiformis and subcuneiformis, periaqueductal gray matter, pontine tegmentum, and the dentate nucleus. The inflammatory response was seen extremely rarely. Individual cases similar to those reported by us have been described in the literature, but it has not been hitherto recognized that they form a distinct clinicopathological syndrome. While we have not been able to establish a definite etiology, we suggest a degenerative process or viral infection. The histopathological features bear a striking resemblance to those seen in postencephalitic parkinsonism and in Hiranos parkinsonisra-dementia syndrome, but the distribution of lesions is different in our cases. We believe that the clinicopathological syndrome described by us is not uncommon and that the awareness of its occurrence will lead to its wider recognition. The highly specific clinical syndrome of our cases is dependent on the similar localization of lesions. It is possible that further observations may broaden the clinical spectrum of the disease. In other cases, the distribution of pathological changes may be different, and thereby the clinical picture would be modified. Patient 6 was under the care of Dr. H. J. M. Barnett who provided us with the clinical records. Drs. H. H. Hyland and J. L. Silversides added some clinical data on cases 2, 3, and 4. Drs. F. McNaughton and G. Mathieson provided the clinical and pathological material of case 7.