[Hereditary dentatorubro-pallidoluysian atrophy (DRPLA): clinical studies on 45 cases]

The term of dentatorubral and Pallidoluysian atrophy (DRPLA) was first introduced by Smith, who proposed that there was a combination of cerebellar ataxia with choreoathetosis based on DRPL lesions. In 1972, Naito et al. reported two families with progressive myoclonus epilepsy (PME) syndrome with cerebellar ataxia, and hyperactive deep tendon reflexes. In 1977, Oyanagi et al. reported 4 autopsied cases of PME, and pointed out degenerative lesions in the DRPL systems. In 1982, Naito and Oyanagi reported this type of PME to be hereditary DRPLA, with a clinicopathological disease entity. This type of PME with DRPLA has been made a major category, especially in Japan. In this article, clinicopathological features of the hereditary DRPLA will be reviewed on the basis of 45 patients with this disease. The disease was inherited as an autosomal dominant fashion, and induces a wide rage of clinical features depending upon the age of onset, ranging from 3 years to 69 years of age. The initial symptoms were variable according to the age of onset and mental retardation was the most prominent symptom in the patients in which the disease started in the first decade and with an epileptic seizure in the second decade. In the following next two decades, the incidence of epileptic seizure, as initial symptoms was decreased to 23% and gait disturbance and ataxia in 38% of the patients, which increased to 73% in the 5th and 6th decades. The cardinal symptoms of hereditary DRPLA includes mental retardation, epileptic seizure and myoclonus, cerebellar ataxia with gait disturbances, psychological symptoms including clonus, cerebellar ataxia with gait disturbances, psychological symptoms including character changes, and dementia.(ABSTRACT TRUNCATED AT 250 WORDS)