Joseph disease in a non-Portuguese family

We studied four patients with Joseph disease in a Japanese family. There were two clinical types in the family. One was characterized by pyramidal and cerebellar signs with or without extrapyramidal signs; the other, by cerebellar signs, loss of tendon reflexes, and peripheral sensory loss. The family tree indicated autosomal-dominant inheritance. Neuropathologic examination revealed marked degeneration of the substantia nigra, dentate nuclei, Clarke column, and anterior horn cells of the spinal cord. This is the first report of pathologically proven Joseph disease in a non-Portuguese family.