First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea
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초록
Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonusand seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine proteaseinhibitor, is the only gene known to be associated with ULD. Although the prevalence of ULD is higher in the Baltic region ofEurope and the Mediterranean, sporadic cases have occasionally been diagnosed worldwide. The patient described in the currentreport showed only abnormally enlarged restriction fragments of 62 dodecamer repeats, confirming ULD, that were transmittedfrom both her father and mother who carried the abnormally enlarged restriction fragment as heterozygotes with normalsizedfragments. We report the first case of a genetically confirmed patient with ULD in Korea.
Abstract
Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonusand seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine proteaseinhibitor, is the only gene known to be associated with ULD. Although the prevalence of ULD is higher in the Baltic region ofEurope and the Mediterranean, sporadic cases have occasionally been diagnosed worldwide. The patient described in the currentreport showed only abnormally enlarged restriction fragments of 62 dodecamer repeats, confirming ULD, that were transmittedfrom both her father and mother who carried the abnormally enlarged restriction fragment as heterozygotes with normalsizedfragments. We report the first case of a genetically confirmed patient with ULD in Korea.
참고문헌 (11)
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