진행성 간대성 근경련간질을 동반한 Dentatorubropallidoluysian Atrophy 1예

Abstract

The dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disorder with expansion of an unstable CAG trinucleotide repeat in a gene on chromosome 12 and a rare cause of progressive myoclonus epilepsy (PME). A 34-year-old female showed progressive myoclonus, choreoathetosis, generalized tonic-clonic seizure, dementia and ataxia. Her uncle died during convulsion at the age of 19. Brain MRI revealed cerebral, cerebellar and brainstem atro-phy accompanied by dilatation of the fourth ventricle. The demonstration of expanded CAG repeat (67/11) in the gene for DRPLA was used to confirm the diagnosis.