J Korean Neurol Assoc.  2003 Oct;21(5):539-542.

A Case of Dentatorubropallidoluysian Atrophy with Corneal Endothelial Degeneration

• Lee JH
• Joo H
• Park KP
• Kim DS
• Park KH
• Jung DS

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.

Keyword

Corneal endothelial degeneration; Dentatorubropallidoluysian atrophy

MeSH Terms

Adult
Atrophy*
Cerebellar Ataxia
Chorea
Dystonia
Endothelial Cells
Humans
Intellectual Disability
Seizures
Spinocerebellar Ataxias
Spinocerebellar Degenerations