A Case of Dentatorubropallidoluysian Atrophy with Corneal Endothelial Degeneration
Journal of the Korean Neurological Association
;
: 539-542, 2003.
Article
in Korean
| WPRIM
| ID: wpr-144990
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Atrophy
/
Seizures
/
Spinocerebellar Degenerations
/
Cerebellar Ataxia
/
Chorea
/
Spinocerebellar Ataxias
/
Endothelial Cells
/
Dystonia
/
Intellectual Disability
Limits:
Adult
/
Humans
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
2003
Type:
Article
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