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

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.

Autistic features in Unverricht–Lundborg disease

“…In the present study, myoclonic jerks were the first clinical feature in two patients. Various stimuli like noise, light or touch may trigger myoclonic jerks in these patients [1], [6], [10]. Our patient's had myoclonus aggravated by flickering lights, movement and vibration as triggering factors in one patient and scolding in none of them.…”

“…Unverricht–Lundborg disease is an autosomal recessive progressive myoclonus epilepsy characterized by onset at the age of 6–15 years, severe incapacitating stimulus-sensitive progressive myoclonus, tonic–clonic seizures, absence seizures and characteristic abnormalities in the electroencephalogram (EEG) [1], [2], [3]. Neuropsychiatric disturbances are a recognized feature of Unverricht–Lundborg disease [4].…”