J Korean Neurol Assoc.
2001 Mar;19(2):173-175.
A Case of Dentatorubropallidoluysian Atrophy with Progressive Myoclonus Epilepsy
- Affiliations
-
- 1Department of Neurology, College of Medicine, Soonchunhyang University.
- 2Department of Radiology, College of Medicine, Soonchunhyang University.
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)
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Vigabatrin-Induced Multifocal Action Myoclonus in a Patient with Partial Epilepsy
- Progressive Myoclonus Epilepsy Associated with Macular Cherry-Red Spots
- CLN6 Mutation in a Patient with Progressive Myoclonus Epilepsy
- Two Cases of Progressive Myoclonus Epilepsy due to Gaucher's Disease, Type 3
- Dentatorubropallidoluysian Atrophy (DRPLA) With Comitant Esotropia
