シスタチンB遺伝子の異変が確認されたUnverricht-Lundorg病の2症例  [in Japanese] Two Cases of Unverricht-Lundborg Disease with Mutation in the Gene Encoding Cystatin B  [in Japanese]

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Abstract

臨床的にUnverricht-Lundborg病 (U-L病) が疑われた2症例において、21番染色体長腕上に存在するシスタチンB遺伝子のプロモーター領域の塩基の繰り返し (repeat) の伸長 (expansion) が確認された。この2症例において、発病年齢、刺激過敏性ミオクローヌスの存在、痴呆と神経症状の緩やかな進行、特徴的な脳波像 (3-5Hz全般性棘徐波、光過敏性) 、巨大な体性感覚誘発電位 (giant SEP) の存在など、欧米におけるU-L病と臨床診断されている症例の臨床的特徴と共通の所見であった。遺伝子診断の確立により、今後本邦におけるU-L病の症例が集積され、その症候学および遺伝子変異がさらに明らかになることが期待される。

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.

Journal

  • Journal of the Japan Epilepsy Society

    Journal of the Japan Epilepsy Society 16(2), 100-108, 1998-06-30

    JAPAN EPILEPSY SOCIETY

References:  16

Cited by:  2

Codes

  • NII Article ID (NAID)
    10008555959
  • NII NACSIS-CAT ID (NCID)
    AN10043823
  • Text Lang
    JPN
  • Article Type
    Journal Article
  • ISSN
    09120890
  • Data Source
    CJP  CJPref  J-STAGE 
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