抄録
There are many reports of abnormal eye movements as well as neuropathology in Joseph type spinocerebellar degeneration (SCD). However, the relationship of the neuropathologic findings to the abnormal eye movements in this disease is still not clear. The aim of this study was to correlate the clinical signs and neurophysiologic and neuropathologic findings. Our patient, who died at 46 years of age, showed typical neurological symptoms and signs of Joseph type SCD: cerebellar ataxia, dystonic posture, bulging eyes, total ophthalmoplegia, fasciculations of face and upper extremities, and autosomal dominant inheritance. Abnormal eye movements were noted the onset of the disease, and then his eye position became fixed. In the neurophysiological examination, his abnormal eye movements showed that the saccadic eye movement system, especially the generator system (burst neuron system), was destroyed. So the main lesion was considered to be in the lower part of the tegmentum.
The postmortem neuropathological examination showed that the neurons in the nuclei for external eye movements, such as the oculomotor, trochlear and ab-ducence nuclei, were relatively spared. However, neurons in the vestibular nucleus, perihypoglossal nuclei, pontine reticular formation and raphe were strongly deciduated and marked fibrous gliosis was seen in these areas. In conclusion, the lesion leading to abnormal eye movements in Joseph type SCD is thought to be in the lower part of the tegmentum rather than in the external ocular nuclei on the basis of both neurophysiological and neuropathological con-siderations.
