Yonsei Med J.  2018 Aug;59(6):798-800. 10.3349/ymj.2018.59.6.798.

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

Affiliations
  • 1Department of Neurology, Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, Korea. changski. kheo@yuhs.ac
  • 2Green Cross Genome, Yongin, Korea. changski.md@gmail.com

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.

Keyword

Progressive myoclonic epilepsy; Unverricht-Lundborg disease; Southern blot

MeSH Terms

Blotting, Southern
Cystatin B
Cysteine Proteases
Diagnosis*
Europe
Fathers
Heterozygote
Humans
Korea*
Mothers
Myoclonic Epilepsies, Progressive
Myoclonus
Prevalence
Seizures
Unverricht-Lundborg Syndrome*
Cystatin B
Cysteine Proteases
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