잠시만 기다려 주세요. 로딩중입니다.

First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea

Yonsei Medical Journal 2018년 59권 6호 p.798 ~ 800
 ( Kim Ki-Hoon ) - Yonsei University College of Medicine Department of Neurology

 ( Song Ju-Sun ) - Green Cross Genome
 ( Park Chan-Wook ) - Yonsei University College of Medicine Department of Neurology
 ( Ki Chang-Seok ) - Green Cross Genome
 ( Heo Kyoung ) - Yonsei University College of Medicine Department of Neurology

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.

키워드

Progressive myoclonic epilepsy; Unverricht-Lundborg disease; Southern blot
원문 및 링크아웃 정보
 
등재저널 정보
SCI(E)
MEDLINE
KCI
KoreaMed