First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea
Yonsei Medical Journal
;
: 798-800, 2018.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Convulsões
/
Southern Blotting
/
Prevalência
/
Epilepsias Mioclônicas Progressivas
/
Síndrome de Unverricht-Lundborg
/
Diagnóstico
/
Europa (Continente)
/
Cistatina B
/
Pai
/
Cisteína Proteases
Tipo de estudo:
Estudo diagnóstico
/
Estudo de prevalência
Limite:
Humanos
País/Região como assunto:
Ásia
/
Europa
Idioma:
Inglês
Revista:
Yonsei Medical Journal
Ano de publicação:
2018
Tipo de documento:
Artigo
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