J Korean Neurol Assoc > Volume 21(5); 2003 > Article

Journal of the Korean Neurological Association 2003;21(5): 539-542.

각막내피세포 변성을 동반한 Dentatorubropallidoluysian atrophy 1예

이재혁 , 주환 박경필 김대성 박규현 정대수

부산대학교 의과대학 신경과학교실

"A Case of Dentatorubropallidoluysian Atrophy with Corneal Endothelial Degeneration"

Jae-Hyeok Lee

Department of Neurology, Pusan National University Hospital

Abstract

"Corneal endothelial degeneration has been reported in diseases associated with CAG repeat expansion including spinocerebellar ataxia type 1 (SCA1) and dentatorubropallidoluysian atrophy (DRPLA). We report a 35-year-old man who has cerebellar ataxia, myoclonic seizure, dystonia, chorea, mental retardation, and visual disturbance. Detailed ophthalmologic examination showed marked reduction of the corneal endothelial cell density. Genetic analysis revealed the presence of a pathological CAG expansion within the DRPLA gene. We suggest that corneal endothelial degeneration might be one of the signs differentiating DRPLA from other hereditary ataxias.Key Words: Corneal endothelial degeneration, Dentatorubropallidoluysian atrophy"