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J Korean Neurol Assoc. 2001;19(2):173-175.
- "A Case of Dentatorubropallidoluysian Atrophy with
Progressive Myoclonus Epilepsy"
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"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."
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Department of Neurology and Radiology*, College of Medicine, Soonchunhyang University
- 진행성 간대성 근경련간질을 동반한 Dentatorubropallidoluysian Atrophy 1예
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정재훈, 배성준 정두신 배원경* 안무영 박형국
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순천향대학교 의과대학 신경과학교실,방사선과학교실*
- 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"
Keywords :
- 초록
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