Two Cases of Unverricht-Lundborg Disease with Mutation in the Gene Encoding Cystatin B

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  • Wachi Manabu
    Division of Psychiatry, National Sanatorium Nishi-Niigata-Chuo Hospital
  • Sasagawa Mutuo
    Division of Psychiatry, National Sanatorium Nishi-Niigata-Chuo Hospital
  • Hasegawa Seiichi
    Division of Psychiatry, National Sanatorium Nishi-Niigata-Chuo Hospital
  • Kanazawa Osamu
    Division of Pediatrics, National Sanatorium Nishi-Niigata-Chuo Hospital
  • Endo Kotaro
    Division of Neurology, National Sanatorium Nishi-Niigata-Chuo Hospital
  • Naito Haruhiko
    Division of Psychiatry, Matuhama Hospital
  • Oonuma Teiichi
    National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry Department of Molecular Biology, Keio University School of Medicine
  • Nagamine Kentaro
    Department of Molecular Biology, Keio University School of Medicine
  • Kudoh Jun
    Department of Molecular Biology, Keio University School of Medicine
  • Shimizu Nobuyoshi
    Department of Molecular Biology, Keio University School of Medicine

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  • スタチンB遺伝子の変異が確認されたUnverricht-Lundborg病の2症例

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Abstract

Unverricht-Lundborg disease (ULD) is an autosomal recessive disorder char-acterized by stimulus-sensitive myoclonus, tonic-clonic seizures, slowly progressive cerebellar signs and dementia, with onset between 6 and 15 years of age. We examined two unrelated Japanese patients suspected to have ULD, a 28-year old male (case 1) and a 36-year old female (case 2) whose parents were consanguineous (first cousins). We found enlargement (750-900 bp) of the 5' flanking region of the cystatin B gene in both the patients by Southern blot analysis.Sequencing analysis revealed that a 12-mer unit CCCCGCCCCGCG repeats 2 or 3 times in healthy individuals and more than 14 times in case 1. The two cases in our report, and ULD patients in Europe showed similar clinical and neurophysiological features;recessive inheritance, onset between 6 and 15 years of age, stimulus-sensitive myoclonus, slowly progressive cerebellar signs and dementia, giant somatosensory evoked potential (SEP) and characteristic electroencephalographic patterns (3-5 Hz generalized spike and wave, photosen-sitivity). We therefore suggest that the identification of mutant genes encoding cystatin B in patients suspected to have ULD not only contributes to the diagnosis in Japanese patients with ULD but also might contribute to the development of genetic studies in ULD.

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