Unverricht-Lundborg disease(Baltic myoclonus) is one of the major causes of progressive myoclonus epilepsy. It is characterized by stimulus sensitive myoclonic seizure, generaized tonic-clonic seizure, generally synchronous polyspike and wave discharges on EEG and absence of severe or early dementia. It has usually been described in the countries around the Baltic area. But recently, it is regarded as the most common form of progressive myoclonus epilepsy in the other countries as well. We report, with the review of the literature, two patients who showed the typical features of this disorder.
Dementia ; Electroencephalography ; Humans ; Myoclonic Epilepsies, Progressive ; Seizures ; Unverricht-Lundborg Syndrome*

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

Myoclonus epilepsy and ragged-red fiber (MERRF) syndrome is one of the common etiologies of progressive myoclonus epilepsy. The clinical features of MERRF syndrome are myoclonus, seizure, dementia, ataxia, neuropathy, myopathy, deafness, and lipouta. The patients with MERRF syndrome have a point mutation in mitochondrial DNA at 8344 or 8356 nucleotide. We are reporting a patient who developed myoclonus and seizure at the age of eighteen. He later showed cerebellar ataxia, peripheral neuropathy, and cognitive dysfunction. Skeletal muscle biopsy failed to demonstrate ragged-red fibers. He was diagnosed as MERRF syndrome by the mitochondrial DNA analysis. He had 86% mutant mitochondrial genomes (A-)G(8%) mutation) in leukocytes, and his asymptomatic mother had 66%. The absence of ragged-red fibers does not rule out the possibility of MERRF syndrome. Demonstration of mitochondrial DNA mutation is the most convincing method for establishing the diagnosis of MERRF.
Ataxia ; Biopsy ; Cerebellar Ataxia ; Deafness ; Dementia ; Diagnosis ; DNA, Mitochondrial ; Epilepsies, Myoclonic* ; Genome, Mitochondrial ; Humans ; Leukocytes ; MERRF Syndrome ; Mothers ; Muscle, Skeletal ; Muscular Diseases ; Myoclonic Epilepsies, Progressive ; Myoclonus* ; Peripheral Nervous System Diseases ; Point Mutation ; Seizures

Lafora's disease is one of the major causes of progressive myoclonic epilepsy. The main clinical manifestrations are epilepsy, both generalized and focal, severe and progressive myoclonus, progressive dementia and cerebellar sign, then leading to death within 2-10 years. The definite diagnosis depends on the detection of the characteristic PAS positive inclusions, which are present in various tissues including the brain, liver, muscle and skin. We presented two brothers who showed typical clinical features of this disorder, confirmed by skin and muscle biopsy.
Biopsy ; Brain ; Dementia ; Diagnosis ; Epilepsy ; Humans ; Liver ; Myoclonic Epilepsies, Progressive ; Myoclonus ; Siblings ; Skin

Adult ; Humans ; Male ; Myoclonic Epilepsies, Progressive ; diagnostic imaging ; genetics ; therapy ; Nerve Tissue Proteins ; genetics ; Pedigree

Patients with dentatorubral-pallidoluysian atrophy occasionally elicit psychosis. So far, one study reported first generation antipsychotics drugs may provide an effective treatment; however, there is no literature on the benefits of second generation antipsychotics. We report on a 44-year-old man with dentatorubral-pallidoluysian atrophy whose psychotic symptoms were effectively treated with olanzapine. Our observation suggests some second generation antipsychotics provide a therapeutic option for ameliorating psychosis in dentatorubral-pallidoluysian atrophy.
Adult ; Antipsychotic Agents ; Humans ; Myoclonic Epilepsies, Progressive* ; Psychotic Disorders* ; Spinocerebellar Degenerations

Gaucher's disease is an autosomal recessive disorder caused by a deficiency of beta-glucosidase (glucocerebrosidase) which results in an accumulation of glucocerebroside in various organs and tissues. Type 3 (juvenile or subacute neuro-pathic) Gaucher's disease, presented here as progressive myoclonus epilepsy, occurs more rarely than type 1 (adult or nonneuropathic) or type 2 (infantile or neuropathic) Gaucher's disease. Two patients (brother and sister) with type 3 Gaucher's disease had or was expected to develop typical features of progressive myoclonus epilepsy: myoclonus, seizures, dementia, and cerebellar dysfunction. One of them showed Gaucher cells in a liver biopsy specimen and decreased beta-glucosidase activity (14% of normal) in the cultured skin fibroblasts, which confirmed the clinical diagno-sis of type 3 Gaucher's disease.
beta-Glucosidase ; Biopsy ; Cerebellar Diseases ; Dementia ; Fibroblasts ; Gaucher Disease* ; Humans ; Liver ; Myoclonic Epilepsies, Progressive* ; Myoclonus ; Seizures ; Skin

Myoclonus, generalized epilepsy, and progressive neurological decline characterize progressive myoclonus epilepsy. A 25-year-old woman was admitted for the evaluation of seizure, progressive myoclonus and ataxic gait. Her symptoms had developed since she was 13 years old. She did not have facial dysmorphism, hepatosplenomegaly, or dementia. Fundoscopic evaluation revealed cherry-red spots in both macular regions. Biochemical assays of hexosaminidase A, beta-galactosidase, and neuraminidase in leukocytes and urine mucopolysaccharides were free of any abnormality. The patient might have an unknown type of lysosomal storage disease.
Adolescent ; Adult ; beta-Galactosidase ; Dementia ; Epilepsy, Generalized ; Female ; Gait ; Glycosaminoglycans ; Hexosaminidase A ; Humans ; Leukocytes ; Lysosomal Storage Diseases ; Myoclonic Epilepsies, Progressive* ; Myoclonus ; Neuraminidase ; Seizures

SCARB2 (scavenger receptor class B, member 2) is a lysosomal membrane glucoprotein, which is encoded by SCARB2 gene. It takes vital parts in the physiological and pathological processes including the transportation of beta-glucocerebrosidase to the lysosome, infection of EV71 and load-induced cardiac myocyte hypertrophy. This article has reviewed the molecular structure and functions of SCARB2 gene and its protein, as well as their relationship with diseases.
Hand, Foot and Mouth Disease ; genetics ; Humans ; Lysosome-Associated Membrane Glycoproteins ; chemistry ; genetics ; physiology ; Myoclonic Epilepsies, Progressive ; genetics ; Parkinson Disease ; genetics ; Receptors, Scavenger ; chemistry ; genetics ; physiology

Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders, which are caused by the accumulation of lipopigment in lysosomes. Variant forms of late infantile NCLs (vLINCLs) characterized by a later onset of seizures and visual impairment (3–8 years) than in the classic form (2–4 years) are caused by mutations of the gene encoding ceroid lipofuscinosis neuronal protein 6 (CLN6). In a girl with progressive myoclonus epilepsy, we found heterozygous variants of CLN6 (NM_017882.2; NP_060352.1): c.296A>G (p.Lys99Arg) and c.307C>T (p.Arg103Trp). They were identified with whole-exome sequencing and verified with Sanger sequencing. At 7 years and 9 months, our patient had developed multiple types of seizures, prominent myoclonus with photosensitivity, regression in motor and language skills, pyramidal and extrapyramidal signs, and brain atrophy in brain images, all of which were progressive and were compatible with vLINCLs. However, this first Korean report shows no visual impairment, which resembles the previously reported Japanese case.
Asian Continental Ancestry Group ; Atrophy ; Brain ; Ceroid ; Child ; Female ; Humans ; Lysosomes ; Myoclonic Epilepsies, Progressive* ; Myoclonus ; Neurodegenerative Diseases ; Neuronal Ceroid-Lipofuscinoses ; Neurons ; Seizures ; Vision Disorders