Dentatorubro-pallidoluysian Atrophy :
The Clinical and Molecular Genetic Study of Three Korean Families

J Korean Neurol Assoc > Volume 18(4); 2000 > Article

Journal of the Korean Neurological Association 2000;18(4): 465-468.

Dentatorubro-pallidoluysian Atrophy : 한국인 세 가계의 임상 및 분자 유전학적 연구

배영희, 임주혁 이상암 박성섭*이명종

울산대학교 의과대학 서울중앙병원 신경과학교실 서울대학교 의과대학 임상병리과학교실*

Dentatorubro-pallidoluysian Atrophy : The Clinical and Molecular Genetic Study of Three Korean Families

Yeong-Hee Bae, M.D., Joo-Hyuk Im, M.D., Sang-Ahm Lee, M.D., Sung-Sup Park, M.D.*, Myoung-Chong Lee, M.D.

Department of Neurology, University of Ulsan, College of Medicine, Asan Medical Center Department of Clinical Pathology, Seoul National University College of Medicine*

Abstract

Dentatorubro-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder with various clinical phenotypes and has a cytosine-adenine-guanine (CAG) trinucleotide repeat in a gene on chromosome 12. It has been known that trinucleotide repeat disorders show strong inverse correlations between the CAG repeat number and the age of onset and genetic anticipation. The purpose of this study was to investigate whether these observations are applicable to Korean patients. This report involved three Korean families and had on file the history of the 15 affected family mem-bers .Seven of the affected members had the diagnosis of DRPLA which was confirmed by a gene study. We observed inverse correlations between the CAG repeat number and the age of onset and genetic anticipation with high intra- and interfamilial variations. Although our study was in general agreement with previously documented features of DRPLA, some features could not be explained by currently understood pathophysiologic mechanisms. J Korean Neurol Assoc 18(4):465~468, 2000 Key Words : DRPLA, Triple repeats, Neurodegenerative diseases, Programmed cell death