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Machado‐Joseph Disease in Japan: Clinicopathological Study of 6 Autopsy Cases with Special Reference to the Clinicopathological Correlation to Cerebellar Ataxia and Lower Motor Neuron Signs

This report concerns a clinicopathological study of six Japanese patients with Machado‐Joseph disease. All were unrelated females; their ages at disease onset ranged from 17 to 36, and the length of the clinical course from 12 to 50 years. The results of neurological examinations indicated that lower motor neuron signs such as ophthalmoparesis, dysphagia, atrophy of the tongue, and muscular weakness of the extremities appeared in the intermediate stages of the disease, and that from these to the end stages, involvement of the lower motor neurons became cardinal signs of the disease. Urinary and/or fecal incontinence was evident in four patients.