思春期以降もてんかん発作と発作性運動誘発性舞踏アテトーゼが併存した<i>PRRT2</i>(proline-rich transmembrane protein 2)遺伝子変異の1例  [in Japanese] An adult female with proline-rich transmembrane protein 2 related paroxysmal disorders manifesting paroxysmal kinesigenic choreoathetosis and epileptic seizures  [in Japanese]

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Author(s)

    • 田邉 康人 Tanabe Yasuto
    • 京都大学大学院医学研究科臨床神経学|現:大阪府済生会中津病院脳神経内科 Department of Neurology, Kyoto University Graduate School of Medicine|Present address: Department of Neurology, Osaka Saiseikai Nakatsu Hospital
    • 平 拓実 Taira Takumi
    • 京都大学大学院医学研究科臨床神経学 Department of Neurology, Kyoto University Graduate School of Medicine
    • 下竹 昭寛 Shimotake Akihiro
    • 京都大学大学院医学研究科てんかん・運動異常生理学講座 Department of Epilepsy, Movement Disorders and Physiology, Kyoto University Graduate School of Medicine
    • 井上 岳司 Inoue Takeshi
    • 京都大学大学院医学研究科臨床神経学|現:大阪市立総合医療センター小児神経内科小児青年てんかん診療センター Department of Neurology, Kyoto University Graduate School of Medicine|Present address: Department of Pediatric Neurology, Osaka City General Hospital
    • 粟屋 智就 Awaya Tomonari
    • 京都大学大学院医学研究科発達小児科学|現:京都大学大学院医学研究科生体構造医学講座形態形成機構学,京都大学大学院医学研究科外胚葉性疾患創薬医学 Department of Pediatrics, Kyoto University Graduate School of Medicine|Present address: Department of Anatomy and Developmental Biology, Drug Discovery Department for Skin and Brain Disorders, Kyoto University Graduate School of Medicine
    • 加藤 竹雄 Kato Takeo
    • 京都大学大学院医学研究科発達小児科学|現:兵庫県立尼崎総合医療センター小児科 Department of Pediatrics, Kyoto University Graduate School of Medicine|Present address: Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center
    • 葛谷 聡 Kuzuya Akira
    • 京都大学大学院医学研究科臨床神経学 Department of Neurology, Kyoto University Graduate School of Medicine
    • 池田 昭夫 Ikeda Akio
    • 京都大学大学院医学研究科てんかん・運動異常生理学講座 Department of Epilepsy, Movement Disorders and Physiology, Kyoto University Graduate School of Medicine

Abstract

<p>症例は21歳右利き女性.てんかん家族歴はない.14歳頃から全身けいれん発作を月1回の頻度で認めていた.クロナゼパム,レベチラセタムの加療では改善しなかった.病歴再聴取にて急な動きに誘発される不随意運動が明らかとなり,発作性運動誘発性舞踏アテトーゼ(paroxysmal kinesigenic choreoathetosis; PKC)の責任遺伝子(proline-rich transmembrane protein 2; <i>PRRT2</i>)に変異を認めた.カルバマゼピン少量投与にてけいれん発作およびPKCは完全に消失した.本例では<i>PRRT2</i>関連疾患として思春期以降もPKCとけいれん発作が併存したがPKCの症状が病的と自覚されていなかった.<i>PRRT2</i>関連疾患のけいれん発作はカルバマゼピンが著効することがあり詳細な病歴聴取が重要である.</p>

<p>A 21-year-old woman presented with a chief complaint of generalized tonic-clonic seizures occurring once a month at night since the age of 14. The patient was treated with clonazepam plus levetiracetam, but seizure frequency was not reduced. After the detailed re-examination of her history of illness, it was revealed that she has been suffering from transient and recurrent choreoathetoid attacks triggered by sudden voluntary movements since she was a junior high school student, and it recently increased in frequency. Neither she nor her family recognize that it was significant to describe to the doctors. She was diagnosed as a complex of paroxysmal kinesigenic choreoathetosis (PKC) and its related conditions. Direct sequencing of proline-rich transmembrane protein 2 (<i>PRRT2</i>) revealed the most frequently described gene mutation, (NM_145239.2:c.649dupC), among <i>PRRT2</i>-related paroxysmal disorders. PKC and seizures were readily controlled with small dose of carbamazepine. Given the broad spectrum of <i>PRRT2</i>-related paroxysmal disorders, assessment of potential clinical complication of paroxysmal disorders including PKC might therefore be critical.</p>

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 59(3), 144-148, 2019

    Societas Neurologica Japonica

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