Abstract
Sixteen cases of Joseph disease were compared with 10 cases of olivo-ponto-cerebellar atrophy (OPCA) clinically and pathologically. In the patients with Joseph disease, age at its onset ranged from 17 to 58 (the mean was 32.9±10.9) and duration of illness ranged from 18 to 26 years (the mean was 24.2±3.1).
Clinical features in Joseph disease included ataxic gait in 100% of the patients, nystagmus in 100%, dysarthria in 94%, spasticity in 63%, brisk deep, tendon reflexes in 81%, dystonia in 69%, external ophthalmoplegia in 81%, and muscle wasting in 75%.
Pathological findings in Joseph disease demonstrated severe degenerative changes in the internal segment of the globus pallidus, subthalamic nucleus, dentate nucleus, the Clarke's column and spino-cerebellar tracts of the spinal cord.
With respect to clinical courses, patients with OPCA showed cerebellar signs for a long period. Though patients of Joseph disease showed cerebellar signs initially, pyramidal and extrapyramidal signs, furtheremore peripheral neuropathy predominated and masked cerebellar signs.
