J Korean Neurol Assoc > Volume 19(2); 2001 > Article

Journal of the Korean Neurological Association 2001;19(2): 173-175.

진행성 간대성 근경련간질을 동반한 Dentatorubropallidoluysian Atrophy 1예

정재훈, 배성준 정두신 배원경* 안무영 박형국

순천향대학교 의과대학 신경과학교실,방사선과학교실*

"A Case of Dentatorubropallidoluysian Atrophy with Progressive Myoclonus Epilepsy"

"Jae-Hoon Joung, M.D., Sung-Jun Bae, M.D., Du-Shin Jeong, M.D., Won-Kyung Bae, M.D.*, Moo-Young Ahn, M.D., Hyung-Kook Park, M.D."

Department of Neurology and 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 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. J Korean Neurol Assoc 19(2):173~175, 2001 Key Words : Dentatorubropallidoluysian atrophy, Progressive myoclonus epilepsy, CAG trinucleotide repeat"