常染色体優性外側側頭葉てんかんの病態解明の融合的研究

2006 Fiscal Year Annual Research Report

• Project/Area Number: 18590935
• Research Category: Grant-in-Aid for Scientific Research (C)
• Research Institution: Kyoto University
• Principal Investigator: 池田 昭夫 京都大学, 医学研究科, 講師 (90212761)
• Co-Investigator(Kenkyū-buntansha): 長峯 隆 京都大学, 医学研究科, 助教授 (10231490) ; 川又 純 京都大学, 医学研究科, 助手 (60360814) ; 石津 浩一 京都大学, 医学研究科, 助手 (50314224) ; 臼井 桂子 静岡てんかん, 医療センター・臨床研究部, 医師 (60402872) ; 木下 真幸子 京都大学, 医学研究科, 医員 (90402883)
• Keywords: 常染色体優性外側側頭葉てんかん / 部分てんかん / LGI1遺伝子 / genotype / phenotype / 聴覚誘発磁場

Research Abstract

現在当施設で加療中の常染色体優性外側側頭葉てんかん(autosomal dominant lateral temporal lobe epilepsy with auditory features : ADLTLE)はADLTLEは3家系あり、そのうち外来で通院加療中は現在計6名である。他施設で加療中あるいはてんかん発作が強く疑われる構成員は現在段階で13名が把握されている。本年度は、臨床症状および各所臨床検査所見に関して、検討して、以下のような結果を得た。
1)2家系において、遺伝子検索を行い、LGI1遺伝子のexon8における点突然変異を2家系で異なる部位に認めた。その一つは既報告で、もう一つは新たな部位であった。
2)同一家系においても臨床症状に差異を認め、外側側頭葉症状、内側側頭葉症状、パニック発作症状が、混在していた。また家系間でも上記症状には差異を認めた。
3)少なくとも異なる2家系に属する2名の患者の発作は極めて難治であり、過去の報告のように発作は必ずしも稀発ではなかった。
4)FDG-PET、MRIでは、それぞれ外側側頭葉の糖代謝低下と容量低下を示した。
5)脳波検査では、発作間欠期のてんかん性放電の出現率は極めて低かった。一方、臨床症上音刺激で誘発される発作を有する患者においては、全頭型脳磁場計測装置を用いて、聴覚誘発磁場(auditory evoked field : AEF)の振幅の異常な増強を認めた。
以上より、LGI1遺伝子以外に、genotypeとphenotypeの相違を決定する修飾因子の存在が強く示唆された。また異常機能部位が、興奮性の亢進か脱抑制の低下であるかは、今後検討検討を進める予定である。

Research Products

• [Journal Article] Comparison between motor evoked potential recording and fiber tracking for estimating pyramidal tracts near brain tumors. (2007)
  • Author(s): Mikuni N, Okada T, Nishida N, Taki J, Enatsu R, Ikeda A, Miki Y, Hanakawa T, Fukuyama H, Hashimoto N
  • Journal Title: J Neurosurg 106 Pages: 128-133
  • Peer Reviewed
• [Journal Article] Fibers from the dorsal premotor cortex elicit motor-evoked potential in a cortical dysplasia. (2007)
  • Author(s): Mikuni N, Okada T, Taki J, Matsumoto R, Nishida N, Enatsu R, Hanakawa T, Ikeda A, Miki Y, Urayama S, Fukuyama H, Hashimoto N
  • Journal Title: Neuroimage 34 Pages: 12-18
  • Peer Reviewed
• [Journal Article] Prefrontal hypofunction in patients with intractable mesial temporal lobe epilepsy (2006)
  • Author(s): Takaya S, Hanakawa T, Hashikawa K, Ikeda A, Sawamoto N, Nagamine T, Ishizu K, Fukuyama H
  • Journal Title: Neurology 67 Pages: 1674-1676
• [Journal Article] Epileptic polyopia with right temporal lobe epilepsy as studied by FDG-PET and MRI : a case report (2006)
  • Author(s): Mitsueda-Ono T, Ikeda A, Noguchi E, Takaya S, Fukuyama H, Shimohama S, Takahashi R
  • Journal Title: J Neurol Sci 247 Pages: 109-111
• [Journal Article] Evidence of a wide distribution of negative motor areas in the perirolandic cortex. (2006)
  • Author(s): Mikuni N, Ohara S, Ikeda A, Hayashi N, Nishida N, Taki J, Enatsu R, Matsumot R, Shibasaki H, Hashimoto N
  • Journal Title: Clin Neurophysiol 117 Pages: 33-40
• [Journal Article] Clinical outcome of patients with SREDA (Subclinical Rhythmic EEG Discharge of Adults). (2006)
  • Author(s): Begum T, Ikeda A, Takahashi J, Tomimoto H, Shimohama S, Satow T, Nagamine T, Fukuyama H, Shibasaki H
  • Journal Title: Int Med 45 Pages: 141-144
• [Journal Article] "Burst and slow complexes" in nonconvulsive, epileptic status. (2006)
  • Author(s): Ikeda A, Matsui M, Hase Y, Hitomi T, Takahashi Y, Shibasaki H, Shimohama S
  • Journal Title: Epileptic Disord 8 Pages: 61-64
• [Journal Article] Generators and temporal succession giant somatsensory evoked potentials : epicortical recording from sensorimotor cortex. (2006)
  • Author(s): Hitomi T, Ikeda A, Matsumoto R, Kinoshita M, Taki J, Usui K, Mikuni N, Nagamine T, Hashimoto N, Shibasaki H, Takahashi R
  • Journal Title: Clin Neurophysiol 117 Pages: 1481-1486
• [Journal Article] Bereitschaftspotentials recorded from the lateral part of the superior frontal gyrus in humans. (2006)
  • Author(s): Ohara S, Ikeda A, Matsuhashi M, Satow T, Kunieda T, Mikuni N, Baba K, Mihara T, Miyamoto S, Shibasaki H
  • Journal Title: Neurosci Lett 399 Pages: 1-5
• [Journal Article] Rapid recovery from coma with multifocal PLEDs in a patient with severe dementia. (2006)
  • Author(s): Begum T, Ikeda A, Yoshioka A, Sawada H, Fukuyama H, Shibasaki H
  • Journal Title: Int Med 45 Pages: 141-144
• [Journal Article] Low-frequency electric cortical stimulation decreases interictal and ictal activity in human epilepsy. (2006)
  • Author(s): Yamamoto J, Ikeda A, Kinoshita M, Matsumoto R, Satow T, Takeshita K, Matsuhashi M, Mikuni N, Miyamoto S, Hashimoto N, Shibasaki H
  • Journal Title: Seizure 15 Pages: 520-527
• [Journal Article] heterogenicity and cortic function within malformation of cortical development : a case rport. (2006)
  • Author(s): Kinoshita M, Ikeda A, Taki J, Usui K, Matsumoto R, Mikuni N, Takahashi JB, Fukuyama H, Hashimoto N, Takahashi R
  • Journal Title: J Neurol Sci 251 Pages: 129-133
• [Journal Article] Subtemporal hippocampectomy preserving the basal temporal language area for intractable mesial temporal lobe epilepsy-preliminary results. (2006)
  • Author(s): Mikuni N, Miyamoto S, Ikeda A, Satow T, Taki J, Takahashi J, Ohigashi Y, Hashimoto N
  • Journal Title: Epilepsia 47 Pages: 1347-1353
• [Journal Article] Proposed diagnostic schema for the classification of epileptic seizures and eipilepsies (ILAE, 2001) : proposal from Japan Epilepsy Society. (2006)
  • Author(s): Iinuma K, Morimoto K, Akiyama T, Ikeda A, Kurimoto M
  • Journal Title: Epilepsia 47 Pages: 1588-1591
• [Journal Article] Ipsilateral facial sensory and motor response to basal fronoto-temporal cortical stimulation : evidence suggesting direct activation of cranial nerves. (2006)
  • Author(s): Begum T, Ikeda A, Matsuhashi M, Mikuni N, Miyamoto S, Hashimoto N, Nagamine T, Fukuyama H, Shibasaki H
  • Journal Title: Epilepsy Res 71 Pages: 216-222
• [Journal Article] A step-by-step resection guided by electrocorticography for nonmalignant brain tumors associated with long-term intractable epilepsy. (2006)
  • Author(s): Mikuni N, Ikeda A, Takahashi JA, Nozaki K, Miyamoto S, taki W, Hashimoto N
  • Journal Title: Brain and Behavor 8 Pages: 560-564
• [Book] Event-related potentials in epilepsy surgery. (2006)
  • Author(s): Usui K, Ikeda A
  • Publisher: In : Luders HO (eds), Textbook of epilepsy surgery, Taylor and Francis Book Ltd; London, (in press)
• [Book] Cortical mapping using evoked potentials and Bereitschaftspotentials. (2006)
  • Author(s): Ikeda A, Shibasaki H
  • Publisher: In : Luders HO (eds), Textbook of epilepsy surgery, Taylor and Francis Book Ltd; London, (in press)
• [Book] DC recordings to localize the ictal onset zone. (2006)
  • Author(s): Ikeda A
  • Publisher: In : Luders HO (eds), Textbook of epilepsy surgery, Taylor and Francis Book Ltd; London, (in press)