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First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea
Yonsei Medical Journal ; : 798-800, 2018.
Artículo en Inglés | WPRIM | ID: wpr-716422
ABSTRACT
Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine protease inhibitor, is the only gene known to be associated with ULD. Although the prevalence of ULD is higher in the Baltic region of Europe and the Mediterranean, sporadic cases have occasionally been diagnosed worldwide. The patient described in the current report showed only abnormally enlarged restriction fragments of 62 dodecamer repeats, confirming ULD, that were transmitted from both her father and mother who carried the abnormally enlarged restriction fragment as heterozygotes with normal-sized fragments. We report the first case of a genetically confirmed patient with ULD in Korea.
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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Convulsiones / Southern Blotting / Prevalencia / Epilepsias Mioclónicas Progresivas / Síndrome de Unverricht-Lundborg / Diagnóstico / Europa (Continente) / Cistatina B / Padre / Proteasas de Cisteína Tipo de estudio: Estudio diagnóstico / Estudio de prevalencia Límite: Humanos País/Región como asunto: Asia / Europa Idioma: Inglés Revista: Yonsei Medical Journal Año: 2018 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Convulsiones / Southern Blotting / Prevalencia / Epilepsias Mioclónicas Progresivas / Síndrome de Unverricht-Lundborg / Diagnóstico / Europa (Continente) / Cistatina B / Padre / Proteasas de Cisteína Tipo de estudio: Estudio diagnóstico / Estudio de prevalencia Límite: Humanos País/Región como asunto: Asia / Europa Idioma: Inglés Revista: Yonsei Medical Journal Año: 2018 Tipo del documento: Artículo