A Case of Dentatorubropallidoluysian Atrophy with Progressive Myoclonus Epilepsy

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 tonicclonic seizure, dementia and ataxia. Her uncle died during convulsion at the age of 19. Brain MRI revealed cerebral, cerebellar and brainstem atrophy 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. (J Korean Neurol Assoc 19(2)173~175, 2001)