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

• Kim KH
• Song JS
• Park CW
• Ki CS
• Heo K

• KMID: 2415540
• DOI: http://doi.org/10.3349/ymj.2018.59.6.798

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

Figure

• 

  Fig. 1 The pedigree of our patient (arrow). Her father was treated with symptomatic seizures after sustaining head trauma in a car accident on his 30s. Other family history was unremarkable.

• 

  Fig. 2 Southern blot analysis showing enlarged restriction fragments in our patient. Positive control shows enlarged fragments with expanded size of 39 dodecamer repeats and 81 dodecamer repeats, respectively, and the negative control shows normal fragments with six repeats. Our patient exhibited a homozygous expanded CSTB fragment with 62 repeats, and her parent and sister were carriers with a heterozygous expanded CSTB fragment.

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