RESUMO
Dentatorubropallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder usually inherited with autosomal dominant pattern, which has been mostly described in reports from Japan. Recently, DRPLA proved to be associated with an expanded CAG nucleotide report in a gene on chromosome 12p. We report the first Korean family with this mutation, which was confirmed by genetic analysis. Case History : A 34 year-old man present ad with a 5 year history of clumsiness, seizures, and gait ataxia. He had dysarthria, clumsiness of hands, gait ataxia and intermittent choreic movements in both arms. There was mild cognitive impairment. EEG showed intermittent generalized slowing, and brain MRI revealed diffuse cerebral and cerebellar atrophy with enlarged 4th ventricle. There were three other affected family members; his 37-year old sister presented with choreiform movements developed at the age of 31. His father and uncle were reported to have been ataxic during the late period of their life, who died at age of 65 and 40 respectively. DNA studies of the prebend and his sister confirmed CAG repeat expansiom in the DRPLA gene, the size of which was 64 and 66, respectively. CONCLUSION: This is the first Korean family with DRPLA, and it should be considered in any patients with inherited neurodegenerative disorder with the above-mentioned clinical features