A Case of Familial Spinocerebellar Ataxia Type 8
Journal of the Korean Neurological Association
;
: 659-662, 2004.
Artículo
en Coreano
| WPRIM
| ID: wpr-199101
ABSTRACT
Spinocerebellar ataxia type 8 (SCA8), originally described in a family characterized by pure cerebellar ataxia, is caused by the expansion of combined CTA/CTG repeats on chromosome 13q21. We experienced a 26-year-old man who presented with a 10-years history of slowly progressive gait ataxia, dysarthria and blepharospasm. We performed genetic studies for SCA1, 2, 3, 6, 7 and 8, and detected CTA/CTG repeat expansion in the SCA8 gene. We now report the first Korean familial case of SCA8 confirmed by genetic study.
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Blefaroespasmo
/
Ataxia Cerebelosa
/
Ataxias Espinocerebelosas
/
Ataxia de la Marcha
/
Disartria
Límite:
Adulto
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2004
Tipo del documento:
Artículo
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