title: Unverricht-Lundborg disease with cystatin B gene abnormalities.
abstract: The clinical, neurophysiologic, and genetic findings in two Japanese patients with the Unverricht-Lundborg type of progressive myoclonus epilepsy are described. The cystatin B gene of Patient 1 exhibited expansion of the dodecamer (12-mer) repeat located in the 5' region and a point mutation (G-->A mutation) in exon 2. The cystatin B gene of Patient 2 exhibited homozygous expansion of the dodecamer repeat. Both parents of Patient 2 were heterozygous carriers. The two patients had a similar clinical course, and their symptoms were similar to those of previously reported patients in Finland. They both had a good response to zonisamide and low-dose primidone. We recommend that zonisamide and low-dose primidone should be introduced as the first drugs of choice for the treatment of patients with the Unverricht-Lundborg type of progressive myoclonus epilepsy.
authors.affiliation: Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine, Yamadaoka 2-2, Suita, Osaka 565-0871, Japan.
authors.forename: Kuriko
authors.initials: K
authors.lastname: Kagitani-Shimono
authors.forename: Katsumi
authors.initials: K
authors.lastname: Imai
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Jiro
authors.initials: J
authors.lastname: Ono
authors.forename: Shintaro
authors.initials: S
authors.lastname: Okada
mesh_terms: D000293:Adolescent; D000483:Alleles; D000927:Anticonvulsants / Q000627:therapeutic use; D015139:Blotting, Southern; D055313:Cystatin B; D015891:Cystatins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004921:Erythropoietin / Q000235:genetics; D015870:Gene Expression / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007555:Isoxazoles / Q000627:therapeutic use; D008297:Male; D010456:Peptides, Cyclic / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D011324:Primidone / Q000627:therapeutic use; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D020194:Unverricht-Lundborg Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D000078305:Zonisamide
chemical_list: D000927:Anticonvulsants; C524994:CSTB protein, human; D015891:Cystatins; C099963:EPO mimetic peptide 1; D007555:Isoxazoles; D010456:Peptides, Cyclic; D004921:Erythropoietin; D011324:Primidone; D000078305:Zonisamide; D055313:Cystatin B