A Case of Spinocerebellar Ataxia Type 7 with Torticollis
Journal of the Korean Neurological Association
;
: 663-666, 2003.
Artículo
en Coreano
| WPRIM
| ID: wpr-187052
ABSTRACT
The spinocerebellar ataxia type 7 is an autosomal dominant neurodegenerative disorder with expansion of unstable CAG trinucleotide repeats in a gene on chromosome 3p, and is classified as autosomal dominant cerebellar ataxia type II. Extrapyramidal findings are uncommonly recognized in autosomal dominant cerebellar ataxia type II. A 27-year-old woman showed progressive ataxia, visual disturbance and torticollis. We report a case of genetically confirmed spinocerebellar ataxia type 7 with extrapyramidal finding.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Ataxia
/
Tortícolis
/
Ataxia Cerebelosa
/
Genes vif
/
Repeticiones de Trinucleótidos
/
Enfermedades Neurodegenerativas
/
Ataxias Espinocerebelosas
Límite:
Adulto
/
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2003
Tipo del documento:
Artículo
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