A Case of Dentatorubropallidoluysian Atrophy with Progressive Myoclonus Epilepsy
Journal of the Korean Neurological Association
;
: 173-175, 2001.
Artículo
en Coreano
| WPRIM
| ID: wpr-134043
ABSTRACT
The dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disorder with expansion of an unstable CAG trinucleotide repeat in a gene on chromosome 12 and a rare cause of progressive myoclonus epilepsy (PME). A 34-year-old female showed progressive myoclonus, choreoathetosis, generalized tonicclonic seizure, dementia and ataxia. Her uncle died during convulsion at the age of 19. Brain MRI revealed cerebral, cerebellar and brainstem atrophy accompanied by dilatation of the fourth ventricle. The demonstration of expanded CAG repeat (67/11) in the gene for DRPLA was used to confirm the diagnosis. (J Korean Neurol Assoc 19(2)173~175, 2001)
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Ataxia
/
Atrofia
/
Convulsiones
/
Cromosomas Humanos Par 12
/
Encéfalo
/
Tronco Encefálico
/
Imagen por Resonancia Magnética
/
Genes vif
/
Repeticiones de Trinucleótidos
/
Enfermedades Neurodegenerativas
Tipo de estudio:
Estudio diagnóstico
Límite:
Adulto
/
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2001
Tipo del documento:
Artículo
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