Familial myoclonus epilepsy and choreoathetosis

We studied five families with a syndrome of myoclonus, epilepsy, dementia, ataxia, and choreoathetosis. At autopsy, the major neuropathologic changes consisted of combined degeneration of the dentatorubral and pallidoluysian systems. The pattern of inheritance implied an autosomal-dominant trait. We have proposed a diagnostic nomenclature for this disease, “hereditary dentatorubral-pallidoluysian atrophy.”