Abstract: Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenera-tive disease rarely reported in China. Its symptoms include: cerebellar ataxia, epilepsy, dementia, myoclonus and choreoathetosis. We reported one case of adult-onset DRPLA family in the article. The female proband developed ataxia at the age of 45, followed by cognitive impairment and possible seizure. Five people in her family had similar symptoms. In addition, cranial MRI showed atrophy of the brainstem and cerebellar, as well as diffuse white matter lesions. Analysis of the ATN1 gene showed CAG repeat sizes to be 14/54 in the proband. Besides, we reviewed relevant literature published in recent years to improve the understanding of the disease, including its clinical manifestations, genetic characteristics, diagnosis and treatments.