A Case of Dentatorubropallidoluysian Atrophy with Corneal Endothelial Degeneration.
- Author:
Jae Hyeok LEE
1
;
Hwan JOO
;
Kyung Pil PARK
;
Dae Seong KIM
;
Kyu Hyun PARK
;
Dae Soo JUNG
Author Information
1. Department of Neurology, Pusan National University Hospital, Korea. jungds@pusan.ac.kr
- Publication Type:Case Report
- Keywords:
Corneal endothelial degeneration;
Dentatorubropallidoluysian atrophy
- MeSH:
Adult;
Atrophy*;
Cerebellar Ataxia;
Chorea;
Dystonia;
Endothelial Cells;
Humans;
Intellectual Disability;
Seizures;
Spinocerebellar Ataxias;
Spinocerebellar Degenerations
- From:Journal of the Korean Neurological Association
2003;21(5):539-542
- CountryRepublic of Korea
- Language:Korean
-
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.
