2022/05/15 更新

写真a

ナカタ トモヒコ
中田 智彦
NAKATA Tomohiko
所属
医学部附属病院 病院講師
職名
病院講師

学位 1

  1. 博士(医学) ( 2013年10月   名古屋大学 ) 

研究キーワード 2

  1. 小児神経学

  2. 臨床神経分子遺伝学

現在の研究課題とSDGs 1

  1. 小児神経学

経歴 1

  1. 名古屋大学   医学部附属病院   病院講師

    2020年10月 - 現在

学歴 1

  1. 名古屋大学   医学部   医学科

    1997年4月 - 2003年3月

所属学協会 1

  1. 日本小児科学会

 

論文 63

  1. Proceedings of the 13th International Newborn Brain Conference: Fetal and/or neonatal brain development, both normal and abnormal.

    Abdi K, Abramsky R, Andescavage N, Bambi J, Basu S, Bearer C, Benner EJ, Biselele T, Bliznyuk N, Breckpot J, Carey G, Chao A, Christiansen LI, Comani S, Croce P, De Vos M, Dereymaeker A, Dubois L, Eisch AJ, Epstein A, Geva N, Geva Y, Gewillig M, Gillis S, Goldberg RN, Gram M, Gregory S, Guez-Barber D, Hayakawa M, Henriksen NL, Hermans T, Hershkovitz R, Holgersen K, Holmqvist B, Jain V, Jansen K, Kandula V, Kapse K, Kawaguchi M, Khair A, Khazaei M, Kidokoro H, Kiffer FC, Kisilewicz K, Kumai S, Lacaille H, Ley D, Limperopoulos C, Lindholm SEH, Lukusa P, Lundberg R, MacFarlane P, Matak P, Mavinga L, Mayer C, Mbayabo G, Mitsumatsu T, Mubungu G, Murnick J, Nakata T, Narita H, Nataraj P, Natsume J, Naulaers G, Nikam R, Ortenlöf N, Ottolini K, Pan X, Pegram K, Penn AA, Pradhan S, Raeisi K, Rickman N, Rikard B, Rotem R, Sangild PT, Sato Y, Sawamura F, Shany E, Shelef I, Shiraki A, Smets L, Sura L, Suzui R, Suzuki T, Tady BP, Taga G, Tamburro G, Thewissen L, Thompson JW, Thymann T, Tokat C, Vacher CM, Valdes C, Vallius S, Vatolin S, Watanabe H, Weintraub AY, Weiss M, Yamamoto H, Yaniv SS, Younge N, Yun S, Zappasodi F

    Journal of neonatal-perinatal medicine   15 巻 ( 2 ) 頁: 411 - 426   2022年

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    記述言語:英語  

    DOI: 10.3233/NPM-229002

    PubMed

  2. 検査室にて沐浴を実施し発作時脳波を捕捉し得た乳幼児てんかんの一症例

    永松 美紗, 鈴木 敦夫, 大熊 相子, 中田 智彦, 白木 杏奈, 鈴木 利明, 夏目 淳, 松下 正

    医学検査   69 巻 ( 3 ) 頁: 481 - 487   2020年7月

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    記述言語:日本語   出版者・発行元:一般社団法人 日本臨床衛生検査技師会  

    <p>症例は11か月男児で特記すべき既往歴および家族歴はない。入浴後に口唇色不良および眼球上転を認め,3日後に同症状が群発したため当院を受診した。同日の脳波検査で覚醒時に右側頭部起始の焦点発作を認めたためカルバマゼピンの内服を開始した。しかし,2か月後に3晩続けて入浴後に発作があり,その後群発したため,Dravet症候群の可能性を考慮しカルバマゼピンからフェノバルビタールの内服へ切り替え,シャワー浴とした。その後,改善なく発作を認めたため,発作捕捉を目的とした脳波検査を実施した。脳波室にて電極装着を行い,沐浴槽を設置して湯浴みを行ったところ,沐浴槽から出て体を拭く間に動作停止し目はうつろ,顔色不良となり,続いて四肢の強直発作が観察された。しばらくして皮膚色および意識は緩徐に回復した。発作時脳波は右中後側頭部の律動波から右側頭部徐波,全般性徐波,強直相のアーティファクト,右前側頭部の鋭徐波複合と推移し,その後に全般性の減衰を示した。本発作は,「意識障害を伴う自律神経症状と強直性姿勢を示す右側頭部起始の焦点発作」と診断された。本症例では,水濡れによる患者の感電および検査機器類故障のリスクがある中,発作を誘発する“入浴とそれに続く一連の動作”を再現することにより発作時脳波の記録に成功し,診断ならび治療方針の決定に寄与することができた。特に小児における発作誘因環境を再現・整備することの重要性を認識できた症例であった。</p>

    DOI: 10.14932/jamt.20-15

    CiNii Research

  3. 経時的に抗MOG抗体価を評価した多相性急性散在性脳脊髄炎の1例

    隈井 すみれ, 山本 啓之, 中田 智彦, 城所 博之, 藤浦 直子, 柴田 元博, 金子 仁彦, 高橋 利幸, 夏目 淳

    脳と発達   52 巻 ( 6 ) 頁: 414 - 418   2020年

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    記述言語:日本語   出版者・発行元:一般社団法人 日本小児神経学会  

    <p> 急性散在性脳脊髄炎 (acute disseminated encephalomyelitis ; ADEM) において, 抗myelin oligodendrocyte glycoprotein (MOG) 抗体が陽性の症例が報告されているが, 抗体価の経時的変化が治療方針決定に有用かは明らかでない. 今回, 抗MOG抗体陽性の多相性ADEMの1例で免疫グロブリン療法 (intravenous immunoglobulin ; IVIG) を行い, 経時的に抗MOG抗体を評価したため報告する. 症例は9歳男児. 頭痛, 異常言動を認め頭部MRI T2強調像, FLAIR像で皮質下白質に散在する高信号域を認めADEMと診断した. ステロイドパルス療法で寛解するも, ステロイド漸減に伴い頭痛, 異常言動が出現しMRIで新規病変を認め, 計3回の再発を認めた. 発症5か月から月に1回のIVIGを開始し, 以降再発を認めていない. 抗MOG抗体価は発症時からIVIG開始までは4,096倍から2,048倍で推移したが, IVIG開始後は徐々に低下した. 抗体価の低下を確認しながらprednisoloneを漸減, 終了し, 発症から1年3か月でIVIGを減量開始, 発症1年9か月でIVIGを終了した. 多相性ADEMにおいて経時的な抗MOG抗体の測定はADEMの病勢を把握し治療の漸減や中止時期の決定に有用な可能性があり, 多数例での検討が必要と考えられた.</p>

    DOI: 10.11251/ojjscn.52.414

    Scopus

    CiNii Research

  4. A Case of a 14-Year-Old Boy who had Difficulty Walking Due to Drug-Induced Neuropathy During T-Cell Acute Lymphocytic Leukemia Treatment

    Yoshida Taro, Sawamura Aya, Muramatsu Hideki, Imaya Masayuki, Yamamori Ayako, Wakamatsu Manabu, Miwata Shunsuke, Narita Kotaro, Kitazawa Hironobu, Taniguchi Rieko, Ichikawa Daisuke, Nishikawa Eri, Hamada Motoharu, Kawashima Nozomu, Narita Atsushi, Nishio Nobuhiro, Kojima Seiji, Nakata Tomohiko, Kidokoro Hiroyuki, Natxume Jun, Takahashi Yoshiyuki

    PEDIATRIC BLOOD & CANCER   66 巻   頁: S30 - S30   2019年12月

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    記述言語:日本語  

    Web of Science

  5. Longitudinal Findings of MRI and PET in West Syndrome with Subtle Focal Cortical Dysplasia

    Sakaguchi Y., Kidokoro H., Ogawa C., Okai Y., Ito Y., Yamamoto H., Ohno A., Nakata T., Tsuji T., Nakane T., Kawai H., Kato K., Naganawa S., Natsume J.

    AMERICAN JOURNAL OF NEURORADIOLOGY   39 巻 ( 10 ) 頁: 1932 - 1937   2018年10月

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    記述言語:日本語   出版者・発行元:American Journal of Neuroradiology  

    BACKGROUND AND PURPOSE: Despite the development of neuroimaging, identification of focal cortical dysplasia remains challenging. The purpose of this study was to show the longitudinal changes of MR imaging and FDG-PET in patients with West syndrome and subtle focal cortical dysplasia. MATERIALS AND METHODS: Among 52 consecutive patients with West syndrome, 4 were diagnosed with subtle focal cortical dysplasia on 3T MR imaging. MR imaging and PET findings were evaluated longitudinally at onset and at 12 and 24 months of age. RESULTS: At the onset of West syndrome, MR imaging demonstrated focal signal abnormalities of the subcortical white matter in 2 patients. In the other 2 patients, focal subcortical high-intensity signals became visible on follow-up T2WI as myelination progressed. PET at onset showed focal cortical hypometabolism in 3 patients, with 1 of these patients also having focal hypermetabolism and 1 having normal findings. On PET at 24 months, hypometabolism persisted in 2 patients and disappeared in 1, and hypermetabolism disappeared in 1. In 1 patient with normal MR imaging and PET findings at onset, focal hyperintensity and hypometabolism first appeared at 24 months of age. The findings on MR imaging and PET in these patients evolved differently with brain maturation and the clinical course. CONCLUSIONS: Subtle focal cortical dysplasia can be undetectable on MR imaging at the onset of West syndrome and is not always accompanied by hypometabolism or hypermetabolism on PET. Longitudinal MR imaging and PET studies may be useful for detecting such lesions. Even in West syndrome with a congenital structural abnormality, PET findings evolve differently with brain maturation and the clinical condition.

    DOI: 10.3174/ajnr.A5772

    Web of Science

    Scopus

  6. [Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy].

    Nishikawa A, Mori-Yoshimura M, Okamoto T, Oya Y, Nakata T, Ohno K, Murata M

    Rinsho shinkeigaku = Clinical neurology   54 巻 ( 7 ) 頁: 561 - 4   2014年

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    記述言語:日本語   出版者・発行元:日本神経学会  

    症例は26歳の女性である.出生時に呼吸不全,筋力低下があり,5歳時,顔面肩甲上腕型筋ジストロフィーと臨床診断されていた.歩行の可否などが週単位で変動した.12歳時,プロテカロール塩酸塩で変動が改善,内服を継続した.26歳時,当院受診.眼瞼下垂,顔面・体幹・四肢近位筋の筋力低下,易疲労性があり,血清CK正常,抗アセチルコリン受容体抗体と抗筋特異的チロシンキナーゼ抗体は陰性,僧帽筋の反復刺激試験でwaning現象をみとめた.<i>DOK7</i>遺伝子に新規変異をみとめ,先天性筋無力症候群と確定診断した.症状はアンベノニウム塩酸塩で悪化し,3,4-ジアミノピリジンで改善した.筋力低下の週から月単位の変動は診断に重要である.

    DOI: 10.5692/clinicalneurol.54.561

    Scopus

    PubMed

    CiNii Research

  7. Exome sequencing analysis reveals a mutation of Kir3.4 in a patient with Andersen-Tawil syndrome

    Kokunai Y., Nakamori M., Kubota T., Mochizuki H., Takahashi M. P., Nakata T., Ohno K., Sakata S., Okamura Y., Kimura H., Itoh H., Horie M., Osaki Y., Shindo K.

    NEUROMUSCULAR DISORDERS   23 巻 ( 9-10 ) 頁: 808 - 808   2013年10月

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    記述言語:日本語  

    DOI: 10.1016/j.nmd.2013.06.592

    Web of Science

  8. [Clinical features of congenital myasthenic syndrome in Japan].

    Irahara K, Komaki H, Honda R, Okumura A, Shiraishi K, Kobayashi Y, Azuma Y, Nakata T, Ohya Y, Sasaki M

    No to hattatsu = Brain and development   44 巻 ( 6 ) 頁: 450 - 4   2012年11月

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    記述言語:日本語  

    PubMed

  9. Clinical features of congenital myasthenic syndrome in Japan

    Irahara K., Komaki H., Honda R., Okumura A., Shiraishi K., Kobayashi Y., Azuma Y., Nakata T., Ohya Y., Sasaki M.

    No To Hattatsu   44 巻 ( 6 ) 頁: 450 - 454   2012年11月

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    記述言語:日本語   出版者・発行元:No To Hattatsu  

    Objective: We examined the clinical and neurophysiology features of Japanese patients with congenital myasthenic syndrome (CMS). Method: Subjects were five patients who were diagnosed with CMS on the basis of clinical course, repetitive nerve stimulation (RNS), and genetic analysis. Results: Four patients manifested motor retardation within one year of birth, while one manifested motor intolerance at three years of age. The most characteristic symptom observed in all the patients was fluctuating muscle weakness, which varied on a daily basis or continued for several days after the late infancy period. Only one patient manifested daily fluctuation of muscle weakness. RNS of the accessory nerve evoked a decrementing response in three patients who were examined;however, RNS of the median, ulnar, and tibial nerves (one patient each) did not evoke such responses. After the edrophonium chloride test, no improvement was seen even if the patients manifested ptosis. For judgment of this test, improvement in decrementing rate observed while performing RNS was useful. All five patients who were administered medication based on the results of genetic analysis demonstrated an improvement in their symptoms. Conclusion: We suggest that CMS can be diagnosed based on careful examination and electrophysiological results. CMS is a treatable disorder, and therefore, correct diagnosis is important.

    Scopus

  10. 本邦における先天性筋無力症候群の臨床的特徴

    苛原 香, 小牧 宏文, 本田 涼子, 奥村 彰久, 白石 一浩, 小林 悠, 東 慶輝, 中田 智彦, 大矢 寧, 佐々木 征行

    脳と発達   44 巻 ( 6 ) 頁: 450 - 454   2012年

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    記述言語:日本語   出版者・発行元:一般社団法人 日本小児神経学会  

     【目的】先天性筋無力症候群 (congenital myasthenic syndrome ; CMS) の特徴を明らかにする. <br> 【方法】CMSと診断した5例の臨床経過, 診察所見, 電気生理学的所見などを後方視的に検討した. <br> 【結果】4例が乳児早期に筋力低下と運動発達遅滞, 1例は3歳時に運動不耐で発症した. 幼児期以降に1日単位で変動または数日間持続する筋力低下を全例で認めたのが特徴的で, 日内変動を示したのは1例のみであった. 反復神経刺激では, 遠位の運動神経では減衰を認めない例があった. 塩酸エドロフォニウム試験では, 眼瞼下垂を示した3例全例で改善を認めなかった. 全例で薬物治療による改善を示した. <br> 【結論】CMSはていねいな診察と電気生理検査により診断可能で薬物治療が行える疾患である.

    DOI: 10.11251/ojjscn.44.450

    CiNii Research

  11. DIFFUSION TENSOR IMAGING AND FDG-PET FINDINGS IN CRYPTOGENIC WEST SYNDROME

    Fukasawa Tatsuya, Natsume J., Nakata T., Naiki M., Azuma Y., Fukatsu H., Ikuta T., Okumura A., Negoro T., Watanabe K.

    EPILEPSIA   50 巻   頁: 428 - 428   2009年11月

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    記述言語:日本語  

    Web of Science

  12. WHITE MATTER ABNORMALITIES IN GLUT1 DEFICIENCY SYNDROME: A DIFFUSION TENSOR IMAGE STUDY WITH SPM

    Nakata Tomohiko, Natsume J., Fukasawa T., Azuma Y., Negoro T., Yanagihara K., Fukatsu H., Watanabe K.

    EPILEPSIA   50 巻   頁: 433 - 433   2009年11月

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    記述言語:日本語  

    Web of Science

  13. THALAMIC INVOLVEMENT IN PATIENTS WITH PROLONGED FEBRILE SEIZURES: A VOXEL-BASED MORPHOMETRIC STUDY

    Natsume J., Sofue A., Maruyama K., Fukasawa T., Nakata T., Negoro T., Watanabe K., Bernasconi N., Bernasconi A.

    EPILEPSIA   50 巻   頁: 429 - 429   2009年11月

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    記述言語:日本語  

    Web of Science

  14. EARLY DIFFERENTIAL DIAGNOSIS OF PROLONGED FEBRILE SEIZURE AND ACUTE ENCEPHALOPATHY: EEG AND MRI STUDIES

    Nakata Tomohiko, Tsuji T., Kubota T., Maruyama K., Okumura A., Natsume Jun

    EPILEPSIA   49 巻   頁: 410 - 410   2008年

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    記述言語:日本語  

    Web of Science

  15. FGD-PET AFTER INITIAL TREATMENTS PREDICTS 10-YEAR DEVELOPMENTAL OUTCOME IN CRYPTO-GENIC WEST SYNDROME

    Natsume Jun, Maeda N., Negoro T., Itomi K., Okumura A., Fukasawa T., Nakata T., Maruyama K., Kubota T., Kato K., Watanabe K.

    EPILEPSIA   49 巻   頁: 410 - 410   2008年

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    記述言語:日本語  

    Web of Science

  16. Acute encephalopathy with biphasic seizures and late reduced diffusion: Predictive EEG findings 査読有り

    Ohno Atsuko, Okumura Akihisa, Fukasawa Tatsuya, Nakata Tomohiko, Suzuki Motomasa, Tanaka Masaharu, Okai Yu, Ito Yuji, Yamamoto Hiroyuki, Tsuji Takeshi, Kidokoro Hiroyuki, Saitoh Shinji, Natsume Jun

    BRAIN & DEVELOPMENT   44 巻 ( 3 ) 頁: 221 - 228   2022年3月

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    記述言語:英語   出版者・発行元:Brain and Development  

    Background: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a common type of acute encephalopathy in Japan; the condition is clinically characterized by prolonged seizures as the initial neurological symptom, followed by late seizures 4–6 days later. It is difficult to differentiate AESD from prolonged febrile seizures (PFSs). Here, we explored the use of electroencephalography to differentiate AESD from PFSs. Methods: We studied the electroencephalograms (EEGs) of children <6 years of age diagnosed with AESD or PFSs; all EEGs were recorded within 48 h of seizure onset (i.e., before the late seizures of AESD). Two pediatric neurologists evaluated all EEGs, focusing on the basic rhythm, slowing during wakefulness/arousal by stimuli, spindles, fast waves, and slowing during sleep. Results: The EEGs of 14 children with AESD and 31 children with PFSs were evaluated. Spindles were more commonly reduced or absent in children with AESD than in those with PFSs (71% vs. 31%, p = 0.021). Fast waves were also more commonly reduced or absent in children with AESD (21% vs. 0%, p = 0.030). The rates of all types of slowing did not differ between children with AESD and those with PFSs, but continuous or frequent slowing during sleep was more common in the former (50% vs. 17%, p = 0.035). Conclusions: EEG findings may usefully differentiate AESD from PFSs. Reduced or absent spindles/fast waves and continuous or frequent slowing during sleep are suggestive of AESD in children with prolonged seizures associated with fever.

    DOI: 10.1016/j.braindev.2021.11.003

    Web of Science

    Scopus

    PubMed

  17. Trajectory of the incidence of brushes on preterm electroencephalogram and its association with neurodevelopment in extremely low birth weight infants 査読有り 国際誌

    Maeda Takashi, Kidokoro Hiroyuki, Tachibana Takashi, Shiraki Anna, Yamamoto Hiroyuki, Nakata Tomohiko, Fukasawa Tatsuya, Kubota Tetsuo, Sato Yoshiaki, Kato Toru, Natsume Jun, Okumura Akihisa, Hayakawa Masahiro

    BRAIN & DEVELOPMENT   43 巻 ( 10 ) 頁: 979 - 987   2021年11月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Brain and Development  

    Background: Brush or delta brush is a well-known characteristic waveform in preterm electroencephalograms. However, the longitudinal trajectory of brushes and its association with neurodevelopment remain uncertain. Methods: We analyzed the longitudinal incidence of brushes in 36 extremely low birth weight infants without severe brain lesions and its association with neurodevelopment and white matter abnormality. Conventional eight-channel electroencephalograms were recorded at 30, 32, 36, and 40 postmenstrual weeks (PMW). Incidence of brushes was calculated as the sum of brushes from each channel separated by active sleep and quiet sleep. A developmental delay was defined as a developmental quotient of <85 assessed at corrected age of 18 months. White matter abnormalities were evaluated with term-equivalent magnetic resonance imaging. Results: The median incidence of brushes (per minute) in 36 infants at PMW 30, 32, 36, and 40 was 16.4, 20.4, 22.5, and 1.8 during active sleep and 7.5, 10.3, 11.5, and 1.7 during quiet sleep, respectively. Among the 36 infants, 14 infants were diagnosed with developmental delay. Longitudinal trajectories of the incidence of brushes were different between the normal and the delayed development groups. Brushes were observed most frequently at 36 PMW in the delayed development group. The incidence of brushes at 36 PMW was significantly correlated with the severity of white matter abnormalities and negatively correlated with the developmental quotient. Conclusion: The incidence of brushes at 36 PMW can be a unique predictor of early neurodevelopment in extremely low birth weight infants without severe brain lesions.

    DOI: 10.1016/j.braindev.2021.07.003

    Web of Science

    Scopus

    PubMed

  18. Involvement of brain structures in childhood epilepsy with centrotemporal spikes. 査読有り 国際誌

    Ito Y, Maki Y, Okai Y, Kidokoro H, Bagarinao E, Takeuchi T, Ohno A, Nakata T, Ishihara N, Okumura A, Yamamoto H, Maesawa S, Natsume J

    Pediatrics international : official journal of the Japan Pediatric Society     2021年9月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    DOI: 10.1111/ped.15001

    PubMed

  19. Repetitive sleep starts: An important differential diagnosis of infantile spasms 査読有り 国際誌

    Maki Yuki, Kidokoro Hiroyuki, Okumura Akihisa, Yamamoto Hiroyuki, Nakata Tomohiko, Fukasawa Tatsuya, Kubota Tetsuo, Kawaguchi Masahiro, Suzuki Takeshi, Tanaka Masaharu, Okai Yu, Sakaguchi Yoko, Ohno Atsuko, Negoro Tamiko, Takahashi Yoshiyuki, Natsume Jun

    EPILEPSY & BEHAVIOR   121 巻 ( Pt A ) 頁: 108075 - 108075   2021年8月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Epilepsy and Behavior  

    Objective: Repetitive sleep starts (RSS) are clusters of nonepileptic, spasm-like movements occurring during sleep onset. However, their characteristics have yet to be defined. We conducted a clinicoelectroencephalographic study of children with RSS to clarify their detailed characteristics. Methods: To differentiate starts from epileptic spasms, we recruited children with brief “crescendo–decrescendo” muscle contractions that simultaneously involved the limbs and trunk without electroencephalogram changes, and that fulfilled the following criteria: (1) repeated occurrence (five or more) and (2) manifestation during sleep stage N1–N2. A total of nine children met these criteria. Their clinical information and video-electroencephalogram data were analyzed retrospectively. Results: The background conditions observed at onset of RSS were perinatal hypoxic–ischemic encephalopathy (n = 4), West syndrome of unknown etiology (n = 1), and traumatic brain injury (n = 1). The age at onset of RSS, the number of starts in a given RSS cluster, the interval between starts, and the duration of surface electromyogram activity were between 3 and 46 months, 5 and 547, <1 and 60 s, and 0.3 and 5.4 s, respectively. None of the median value of these parameters differed between children with and without corticospinal tract injury. During the median follow-up period of 33 months, RSS disappeared spontaneously in five. Conclusion: This is the largest case series of RSS clarifying their clinicoelectroencephalographic characteristics reported to date. To avoid unnecessary antiepileptic therapies, clinicians should be aware of RSS and distinguish it from other disorders involving involuntary movements or seizures, especially epileptic spasms.

    DOI: 10.1016/j.yebeh.2021.108075

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  20. Risks of ACTH therapy for West syndrome following BCG vaccination 査読有り 国際誌

    Maki Yuki, Natsume Jun, Hori Ikumi, Takeuchi Tomoya, Negishi Yutaka, Kubota Tetsuo, Maruyama Koichi, Nakata Tomohiko, Yamamoto Hiroyuki, Tanaka Masaharu, Kawaguchi Masahiro, Suzuki Takeshi, Shiraki Anna, Sawamura Fumi, Kidokoro Hiroyuki

    EPILEPSY & BEHAVIOR   118 巻   頁: 107924 - 107924   2021年5月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Epilepsy and Behavior  

    Objective: Bacille de Calmette et Guérin (BCG) is a live vaccine for tuberculosis that is administered to all infants in Japan. Adrenocorticotropic hormone (ACTH) therapy for West syndrome (WS) causes immunosuppression and may result in BCG infection after BCG vaccination. We evaluated the safety of ACTH therapy initiated shortly after BCG vaccination. Methods: We analyzed patients with WS who received ACTH therapy between 2005 and 2018. We evaluated the interval between BCG and ACTH therapy, and the rate of BCG infection during and after ACTH therapy, by retrospective chart review. Results: Seventy-nine patients were included in the analysis. Twenty-three patients received ACTH therapy prior to BCG vaccination. For the remaining 56 patients, the median interval between BCG vaccination and the start of ACTH therapy (BCG–ACTH interval) was 91.5 (range 14–280) days. The BCG–ACTH interval was shorter in patients with unknown than in those with known etiologies. It was <8 weeks in 13 patients (10 with unknown and 3 with known etiologies). The minimum BCG–ACTH interval was 14 days. Six patients with epileptic spasms received BCG vaccinations because physicians did not recognize their seizures. None of the patients developed BCG infection. Conclusion: No patients who received ACTH therapy after BCG, even at an interval of 8 weeks, developed BCG infection. The timing of ACTH therapy initiation should be based on the risk of BCG-related adverse events and the adverse effects of any delay.

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  21. The eldest case of MICPCH with CASK mutation exhibiting gross motor regression 国際誌

    Nishio Yosuke, Kidokoro Hiroyuki, Takeo Toshiki, Narita Hajime, Sawamura Fumi, Narita Kotaro, Kawano Yoshihiko, Nakata Tomohiko, Muramatsu Hideki, Hara Shinya, Kaname Tadashi, Natsume Jun

    BRAIN & DEVELOPMENT   43 巻 ( 3 ) 頁: 459 - 463   2021年3月

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    記述言語:日本語   出版者・発行元:Brain and Development  

    Background: MICPCH is manifested as microcephaly associated with pontocerebellar hypoplasia and global developmental delay but developmental regression has never been reported. We describe the detailed clinical history of a woman with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) with a CASK mutation who exhibited gross motor regression after adolescence. Case: The patient experienced severe motor and intellectual developmental delay with microcephaly from infancy. The initial diagnosis was Rett syndrome based on her clinical features, including hand stereotypes and the absence of structural abnormality on magnetic resonance imaging (MRI) performed at the age of 5 years. Although gross motor abilities developed slowly and she could walk independently, she never acquired speech or understanding of languages. After adolescence, her motor ability gradually regressed so that she was unable to stand without support and moved with a wheelchair. At the age of 31 years, because of her atypical clinical course for Rett syndrome, whole exome sequencing was performed, which revealed a de novo heterozygous c.2068 + 1G > A mutation in the CASK gene (NM_001126055). Brain MRI revealed mild pontocerebellar hypoplasia compatible with the clinical phenotype of MICPCH. Discussion: This case suggests that MICPCH with a CASK mutation might cause developmental regression after adolescence and might be regarded as a neurodegenerative disorder.

    DOI: 10.1016/j.braindev.2020.11.007

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  22. Shuffling babies and autism spectrum disorder 国際誌

    Okai Yu, Nakata Tomohiko, Miura Kiyokuni, Ohno Atsuko, Wakako Rie, Takahashi Osamu, Maki Yuki, Tanaka Masaharu, Sakaguchi Yoko, Ito Yuji, Yamamoto Hiroyuki, Kidokoro Hiroyuki, Takahashi Yoshiyuki, Natsume Jun

    BRAIN & DEVELOPMENT   43 巻 ( 2 ) 頁: 181 - 185   2021年2月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Brain and Development  

    Background and purpose: Bottom shuffling is a locomotion strategy that precedes independent walking in some infants. Shuffling babies are generally considered to have favorable outcomes. The aim of the present study was to reveal clinical features and neurodevelopmental outcomes of shuffling babies who visited a child developmental center. Methods: We studied 48 shuffling babies who visited Toyota Municipal Child Development Center from April 2007 to March 2015. We excluded patients with cerebral palsy, Down syndrome, or congenital disorders. In 2018, we retrospectively reviewed the clinical charts of the enrolled children. We investigated family history, neurological findings, and the developmental outcome during the follow-up period. Results: During the follow-up period, 20 children (42%) were diagnosed with ASD. Gross motor development in infancy was not different between infants with and without ASD. The rate of poor eye contact at the first visit and a delay in the first word speech were significantly higher in infants with ASD than in infants without ASD. A family history of bottom shuffling was significantly less frequent in infants with ASD (10%) than in those without (39%). Conclusion: Some of bottom shufflers may represent ASD during follow-up. Paying attention to social and cognitive functions in shuffling babies is important.

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  23. Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome 国際誌

    Natsume Jun, Ishihara Naoko, Azuma Yoshiteru, Nakata Tomohiko, Takeuchi Tomoya, Tanaka Masaharu, Sakaguchi Yoko, Okai Yu, Ito Yuji, Yamamoto Hiroyuki, Ohno Atsuko, Kidokoro Hiroyuki, Hattori Ayako, Nabatame Shin, Kato Katsuhiko

    BRAIN & DEVELOPMENT   43 巻 ( 1 ) 頁: 69 - 77   2021年1月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Brain and Development  

    Purpose: To establish an objective method of [18F]-fluorodeoxyglucose positron emission tomography (FDG-PET) that can assist in the diagnosis of glucose transporter 1 deficiency syndrome (GLUT1-DS). Methods: FDG-PET was performed in 8 patients with a mean age of 12.5 years (range, 2–22 years) with GLUT1-DS. Their PET findings were compared with those of 45 controls with a mean age of 11.2 years (range, 2–21 years) by statistical parametric mapping (SPM12, Welcome Neurological Institute). The controls had epilepsy of unknown etiology and normal MRI findings. The age-adjusted ratios of mean radioactivities in regions of interest (ROIs) of bilateral lenticular nuclei, thalami, and the whole cerebral cortex were also measured. The sensitivities and specificities of the ratios for the differential diagnosis of GLUT1-DS were also determined. Results: SPM showed significantly decreased uptake in bilateral thalami and increased uptake in bilateral lenticular nuclei in patients with GLUT1-DS. There were no areas in the cerebral cortex with significant differences between patients and controls. On ROI analysis, by setting the cut-off value of the age-adjusted lenticular nuclei/thalami radioactivity ratio to 1.54, patients with GLUT1-DS were differentiated from controls with sensitivity of 1.00 and specificity of 0.98. Conclusion: The age-adjusted lenticular nuclei/thalami radioactivity ratio on PET can distinguish patients with GLUT1-DS from patients with epilepsy of unknown etiology with high sensitivity and specificity. It is important to pay attention to the metabolism of the lenticular nuclei and thalami on PET for the diagnosis of GLUT1-DS.

    DOI: 10.1016/j.braindev.2020.07.001

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  24. 経時的に抗MOG抗体価を評価した多相性急性散在性脳脊髄炎の1例

    隈井 すみれ, 山本 啓之, 中田 智彦, 城所 博之, 藤浦 直子, 柴田 元博, 金子 仁彦, 高橋 利幸, 夏目 淳

    脳と発達   52 巻 ( 6 ) 頁: 414 - 418   2020年11月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

    急性散在性脳脊髄炎(acute disseminated encephalomyelitis;ADEM)において、抗myelin oligodendrocyte glycoprotein(MOG)抗体が陽性の症例が報告されているが、抗体価の経時的変化が治療方針決定に有用かは明らかでない。今回、抗MOG抗体陽性の多相性ADEMの1例で免疫グロブリン療法(intravenous immunoglobulin;IVIG)を行い、経時的に抗MOG抗体を評価したため報告する。症例は9歳男児。頭痛、異常言動を認め頭部MRI T2強調像、FLAIR像で皮質下白質に散在する高信号域を認めADEMと診断した。ステロイドパルス療法で寛解するも、ステロイド漸減に伴い頭痛、異常言動が出現しMRIで新規病変を認め、計3回の再発を認めた。発症5ヵ月から月に1回のIVIGを開始し、以降再発を認めていない。抗MOG抗体価は発症時からIVIG開始までは4,096倍から2,048倍で推移したが、IVIG開始後は徐々に低下した。抗体価の低下を確認しながらprednisoloneを漸減、終了し、発症から1年3ヵ月でIVIGを減量開始、発症1年9ヵ月でIVIGを終了した。多相性ADEMにおいて経時的な抗MOG抗体の測定はADEMの病勢を把握し治療の漸減や中止時期の決定に有用な可能性があり、多数例での検討が必要と考えられた。(著者抄録)

    その他リンク: https://search.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2020&ichushi_jid=J01232&link_issn=&doc_id=20201030160010&doc_link_id=10.11251%2Fojjscn.52.414&url=https%3A%2F%2Fdoi.org%2F10.11251%2Fojjscn.52.414&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_3.gif

  25. Change of White Matter Integrity in Children With Hematopoietic Stem Cell Transplantation 国際誌

    Sakaguchi Yoko, Natsume Jun, Kidokoro Hiroyuki, Tanaka Masaharu, Okai Yu, Ito Yuji, Yamamoto Hiroyuki, Ohno Atsuko, Nakata Tomohiko, Nakane Toshiki, Kawai Hisashi, Taoka Toshiaki, Muramatsu Hideki, Naganawa Shinji, Takahashi Yoshiyuki

    PEDIATRIC NEUROLOGY   111 巻   頁: 78 - 84   2020年10月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Pediatric Neurology  

    Background: Advances in hematopoietic stem cell transplantation have improved the survival rate of malignant diseases and congenital immunodeficiencies. It has become important to assess long-term complications in survivors. To assess neurological abnormalities in children treated by transplantation, diffusion tensor imaging was performed. Methods: Forty children who underwent head diffusion tensor imaging before and after their first transplantation were enrolled. Patients with brain lesions on conventional MRI were excluded. Fractional anisotropy and mean diffusivity were compared between patients and 28 control subjects using tract-based spatial statistics. The Strengths and Difficulties Questionnaire was administered as a behavioral evaluation after transplantation, and diffusion tensor images of patients with and without behavioral abnormalities were compared. Results: The age of patients and controls was 0 to 19 years and 0 to 16 years, respectively. The date of diffusion tensor imaging was 10 to 57 days before and 40 to 153 days after transplantation. Tract-based spatial statistics showed fractional anisotropy reduction in widespread white matter in patients before and after transplantation. Mean diffusivity was high before transplantation and normalized after transplantation. Analysis comparing before and after hematopoietic stem cell transplantation shows no difference in fractional anisotropy and significantly high mean diffusivity before hematopoietic stem cell transplantation. In patients with behavioral abnormalities, low fractional anisotropy and high mean diffusivity remained after transplantation. Conclusions: Longitudinal diffusion tensor imaging showed white matter abnormalities in children without conventional MRI abnormalities, which were related to behavioral problems after transplantation. Diffusion tensor imaging is useful for behavioral assessment in children undergoing transplantation.

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  26. Evaluation of interobserver variability in application of the new neonatal seizure classification proposed by the ILAE Task Force 国際誌

    Kubota Tetsuo, Kidokoro Hiroyuki, Narahara Sho, Fukasawa Tatsuya, Nakata Tomohiko, Natsume Jun, Okumura Akihisa

    EPILEPSY & BEHAVIOR   111 巻   頁: 107292 - 107292   2020年10月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Epilepsy and Behavior  

    Objective: Clinical identification of neonatal seizures (NS) remains challenging. The International League Against Epilepsy (ILAE) Task Force on Neonatal Seizures has proposed a new classification of NS, based on the 2017 ILAE seizure classification. One of the key points of this proposed NS classification is that seizure types should be determined by the “predominant” clinical feature. However, when the definition of “predominant” is uncertain, interobserver variability may arise. Methods: We asked 49 health professionals to classify 21 NS video-electroencephalogram (EEG) recordings using the proposed 9 seizure types. Results: The degree of agreement among participants was low, and agreement was weak among experts in neonatal neurology. Among experts, the rate of agreement was < 50% for 2 NS. This disagreement was related to differences in the interpretation of “predominant features.” Although interobserver variability was present among users of the new NS classification, the reproducibility of the NS classification was satisfactory. Conclusion: Education designed to foster consistent application of the standards for NS will be important for reducing interobserver variability and expanding the use of the new NS classification.

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  27. High-amplitude fast activity in EEG: An early diagnostic marker in children with beta-propeller protein-associated neurodegeneration (BPAN) 国際誌

    Kidokoro Hiroyuki, Yamamoto Hiroyuki, Kubota Tetsuo, Motobayashi Mitsuo, Miyamoto Yusaku, Nakata Tomohiko, Takano Kyoko, Shiba Naoko, Okai Yu, Tanaka Masaharu, Sakaguchi Yoko, Maki Yuki, Kawaguchi Masahiro, Suzuki Takeshi, Muramatsu Kazuhiro, Natsume Jun

    CLINICAL NEUROPHYSIOLOGY   131 巻 ( 9 ) 頁: 2100 - 2104   2020年9月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Clinical Neurophysiology  

    Objective: The early diagnosis of beta-propeller protein-associated neurodegeneration (BPAN) before distinct brain magnetic resonance imaging (MRI) findings of iron deposition occur remains challenging. This study examined whether children with BPAN have characteristic high-amplitude (>50 μV) fast activity (HAFA) on electroencephalography (EEG). Methods: We conducted a retrospective analysis of EEG performed during childhood in five patients with BPAN. We also examined 143 EEGs from 59 patients with different etiologies, including epilepsy (n = 33), acute encephalopathy (n = 6), neurodevelopmental disorders (n = 5), non-epileptic events (n = 4), and others (n = 11). Trained electroencephalographers reviewed all of the EEGs. When excessive fast activity was observed, the amplitude, frequency, and locality were assessed. Results: All five patients with BPAN underwent initial EEGs at 12–21 months old, and diffuse continuous HAFA (range 20–50 Hz) was observed on both awake and sleep EEGs. In the awake records, there was no clear posterior dominant rhythm in 4 of the 5 patients. Although 28% of the 143 EEGs had continuous excessive fast activity, mainly in the sleep records, only two (1.4%) exhibited HAFA when asleep, and their awake EEGs had clear posterior dominant rhythm. Conclusions: The EEGs of children with BPAN showed diffuse HAFA continuously when both awake and asleep, which is uncommon in children with other etiologies. Significance: This study provides an important clue for the early diagnosis of BPAN.

    DOI: 10.1016/j.clinph.2020.06.006

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  28. Transient cortical diffusion restriction in children immediately after prolonged febrile seizures 国際誌

    Suzuki Takeshi, Kidokoro Hiroyuki, Kubota Tetsuo, Fukasawa Tatsuya, Suzui Ryosuke, Tsuji Takeshi, Kato Toru, Yamamoto Hiroyuki, Ohno Atsuko, Nakata Tomohiko, Saitoh Shinji, Okumura Akihisa, Natsume Jun

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY   27 巻   頁: 30 - 36   2020年7月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:European Journal of Paediatric Neurology  

    Aim: Little is known about acute febrile status epilepticus-induced injury of extrahippocampal structures. To clarify the presence and clinical significance of acute extrahippocampal injuries, we performed diffusion-weighted imaging (DWI) in children immediately after prolonged febrile seizure (PFS). Method: We performed a retrospective cohort study in children younger than 6 years old who visited one of two hospitals due to PFSs between January 2013 and October 2018. PFS was defined as a febrile seizure that persisted for 15 min or longer. We collected brain DWI data within 6 h of the end of PFS. When the initial DWI detected an abnormality, a follow-up DWI was performed a few days later. Results: The study population consisted of 101 patients with PFSs. DWI was performed within 6 h in 51 patients, while the remaining 50 patients did not undergo imaging because of good recovery of consciousness. Restricted cortical diffusion was evident in 9 (18%) patients on initial DWI. All of them underwent DWI within 100 min after PFS. Restricted cortical diffusion was associated with male sex, asymmetrical PFS symptoms, and a shorter duration between the end of the seizure and DWI, but was not associated with seizure duration. All cortical abnormalities had resolved on follow-up DWI of these patients within 72 h after the initial imaging, but ipsilateral hippocampal hyperintensity appeared in one patient. All 9 patients with restricted cortical diffusion were finally diagnosed with PFS and discharged without sequelae. Conclusions: Some children with PFSs exhibit transient restricted diffusion in the regional cortex on DWI performed immediately after the end of PFS. These transient diffusion changes were not associated with unfavorable epileptic sequelae or neuroimaging in the short-term.

    DOI: 10.1016/j.ejpn.2020.05.004

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  29. Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration 国際誌

    Kawaguchi Masahiro, Sassa Takayuki, Kidokoro Hiroyuki, Nakata Tomohiko, Kato Kohji, Muramatsu Hideki, Okuno Yusuke, Yamamoto Hiroyuki, Kaname Tadashi, Kihara Akio, Natsume Jun

    BRAIN & DEVELOPMENT   42 巻 ( 2 ) 頁: 217 - 221   2020年2月

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    記述言語:日本語   出版者・発行元:Brain and Development  

    FA2H encodes fatty acid 2-hydroxylase, which plays a significant role in maintaining the neuronal myelin sheath. Previous reports have revealed that a FA2H mutation leads to spastic paraplegia, leukodystrophy, and neurodegeneration with brain iron accumulation, collectively referred to as fatty acid hydroxylase-associated neurodegeneration (FAHN). The disease severity of FAHN varies among individual patients and may be explained by the enzyme activity of FA2H mutant proteins. Here we report a 10-year-old Japanese boy with FAHN having novel heterozygous mutations in FA2H. The patient presented with a spastic gait since the age of 5 years and was unable to walk without a cane by the time he was 8 years old. Brain MRI demonstrated a partial thinning of the corpus callosum, slight reduction of cerebellar volume, and posterior dominant periventricular leukodystrophy. Whole exome sequencing revealed two novel missense mutations in FA2H with compound heterozygous inheritance (NM_024306, p.Val149Leu, and p.His260Gln mutations). The enzyme activities of the p.Val149Leu and p.His260Gln variants were 60%–80% and almost 0%, respectively. Our cell-based enzyme assay demonstrated partial functionality for one of the variants, indicating a milder phenotype. However, considered along with previous reports, there was no definite relationship between the disease severity and residual enzyme activity measured using a similar method. Further research is needed to precisely predict the phenotypic severity of this disorder.

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  30. Pseudo-sawtooth pattern on amplitude-integrated electroencephalography in neonatal hypoxic-ischemic encephalopathy 国際誌

    Tanaka Masaharu, Kidokoro Hiroyuki, Kubota Tetsuo, Fukasawa Tatsuya, Okai Yu, Sakaguchi Yoko, Ito Yuji, Yamamoto Hiroyuki, Ohno Atsuko, Nakata Tomohiko, Negoro Tamiko, Okumura Akihisa, Kato Toru, Watanabe Kazuyoshi, Takahashi Yoshiyuki, Natsume Jun

    PEDIATRIC RESEARCH   87 巻 ( 3 ) 頁: 529 - 535   2020年2月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Pediatric Research  

    Objective: The objective of this study was to describe a novel amplitude-integrated electroencephalography (aEEG) pattern in infants with hypoxic–ischemic encephalopathy (HIE) and to assess the clinical significance. Methods: The aEEG traces of infants with HIE who were treated with therapeutic hypothermia (TH) from 2012 to 2017 were analyzed. A pseudo-sawtooth (PST) pattern was defined as a periodic increase of the upper and/or lower margin of the trace on aEEG without showing seizure activities on conventional EEG (CEEG). Results: Of the 46 infants, 6 (13%) had the PST pattern. The PST pattern appeared following a flat trace or a continuous low-voltage pattern and was followed by a burst-suppression pattern. On CEEG, the PST pattern consists of alternating cycles of low-voltage irregular activities and almost flat tracing. The PST pattern was associated with neuroimaging abnormalities and with various degrees of neurodevelopmental outcomes. Positive predictive values of the PST or worse pattern for adverse outcomes were high at 12 h after birth. Conclusion: A novel aEEG background pattern in infants with HIE was reported. The PST pattern likely indicates a suppressed background pattern and may be linked to unfavorable outcomes. Further multicenter validation study is needed to clarify its clinical significance.

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  31. 造血幹細胞移植を受けた小児における拡散テンソル画像解析

    坂口 陽子, 城所 博之, 白木 杏奈, 鈴木 健史, 川口 将宏, 牧 祐輝, 田中 雅大, 山本 啓之, 中田 智彦, 村松 秀城, 高橋 義行, 夏目 淳

    日本小児科学会雑誌   124 巻 ( 2 ) 頁: 290 - 290   2020年2月

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    記述言語:日本語   出版者・発行元:(公社)日本小児科学会  

  32. FDG-PETとEEG-fMRIを用いててんかん焦点、てんかん性ネットワークの継時的評価を行った結節性硬化症の1例

    牧 祐輝, 伊藤 祐史, 岡井 佑, 白木 杏奈, 川口 将宏, 鈴木 健史, 田中 雅大, 坂口 陽子, 山本 啓之, 中田 智彦, 城所 博之, 前澤 聡, バガリナオ・エピファニオ, 寳珠山 稔, 夏目 淳

    てんかん研究   37 巻 ( 3 ) 頁: 838 - 838   2020年1月

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    記述言語:日本語   出版者・発行元:(一社)日本てんかん学会  

  33. West症候群におけるてんかんネットワークの継時的変化

    牧 祐輝, 伊藤 祐史, 岡井 佑, 白木 杏奈, 川口 将宏, 鈴木 健史, 田中 雅大, 坂口 陽子, 山本 啓之, 中田 智彦, 城所 博之, 前澤 聡, バガリナオ・エピファニオ, 寶珠山 稔, 夏目 淳

    臨床神経生理学   47 巻 ( 5 ) 頁: 432 - 432   2019年10月

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    記述言語:日本語   出版者・発行元:(一社)日本臨床神経生理学会  

  34. West症候群患児におけるBCG接種からACTH療法開始までの期間に関する検討

    牧 祐輝, 白木 杏奈, 川口 将宏, 鈴木 健史, 田中 雅大, 坂口 陽子, 山本 啓之, 中田 智彦, 城所 博之, 石原 尚子, 夏目 淳

    てんかん研究   37 巻 ( 2 ) 頁: 575 - 575   2019年9月

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    記述言語:日本語   出版者・発行元:(一社)日本てんかん学会  

  35. Hippocampal diffusion abnormality after febrile status epilepticus is related to subsequent epilepsy 国際誌

    Yokoi Setsuri, Kidokoro Hiroyuki, Yamamoto Hiroyuki, Ohno Atsuko, Nakata Tomohiko, Kubota Tetsuo, Tsuji Takeshi, Morishita Masashi, Kawabe Takashi, Naiki Misako, Maruyama Koichi, Itomi Kazuya, Kato Toru, Ito Komei, Natsume Jun

    EPILEPSIA   60 巻 ( 7 ) 頁: 1306 - 1316   2019年7月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Epilepsia  

    Objective: To assess hippocampal signal changes on diffusion-weighted imaging (DWI) during the acute period after febrile status epilepticus (FSE) and to examine the relationship between DWI and subsequent epilepsy. Methods: A prospective, multicenter study of children with a first episode of FSE was performed. The patients underwent magnetic resonance imaging (MRI) within 3 days of FSE, and signal intensity was evaluated on DWI. Electroencephalography studies within 3 days of FSE were also assessed. Nine to 13 years after FSE, information on subsequent epilepsy was obtained. Results: Twenty-two children with FSE were evaluated. DWI showed unilateral hippocampal hyperintensity in six patients (27%). Three of six patients with hippocampal hyperintensity had ipsilateral thalamic hyperintensity. On EEG within 3 days of FSE, five of six patients with hippocampal hyperintensity had ipsilateral focal slowing, spikes, or attenuation. Nine to 13 years later, the outcomes could be determined in five patients with hippocampal hyperintensity and in 10 without. All 5 patients with hippocampal hyperintensity had hippocampal atrophy and developed focal epilepsy, whereas only 1 of 10 patients without hippocampal hyperintensity developed epilepsy (P = 0.002). Ictal semiology was concordant with temporal lobe seizures in all patients. Ipsilateral temporal epileptiform abnormalities were seen on EEG in four of five at last follow-up. Significance: Acute DWI hippocampal hyperintensity was seen in 27% of patients with FSE. Acute DWI hyperintensity suggests cytotoxic edema caused by prolonged seizure activity. Hippocampal DWI hyperintensity is related to mesial temporal lobe epilepsy and can be a target of neuroprotective treatments to prevent the onset of epilepsy.

    DOI: 10.1111/epi.16059

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  36. Mental retardation and microcephaly with pontine and cerebellar hypoplasia(MICPCH)の成人例

    西尾 洋介, 城所 博之, 中田 智彦, 原 紳也, 渡邊 一功, 夏目 淳

    脳と発達   51 巻 ( Suppl. ) 頁: S361 - S361   2019年5月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

  37. 東海地区における急性脳症による死亡例の発生状況

    田中 雅大, 川口 将宏, 鈴木 健史, 牧 祐輝, 岡井 佑, 坂口 陽子, 山本 啓之, 中田 智彦, 城所 博之, 深沢 達也, 根岸 豊, 奥村 彰久, 齋藤 伸治, 夏目 淳

    脳と発達   51 巻 ( Suppl. ) 頁: S241 - S241   2019年5月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

  38. 東海地区におけるbright tree appearanceを呈する急性脳症の発症状況(第2報)

    牧 祐輝, 川口 将宏, 鈴木 健史, 田中 雅大, 岡井 佑, 坂口 陽子, 山本 啓之, 中田 智彦, 根岸 豊, 深沢 達也, 城所 博之, 奥村 彰久, 齋藤 伸治, 夏目 淳

    脳と発達   51 巻 ( Suppl. ) 頁: S241 - S241   2019年5月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

  39. 早産児の修正40週での安静時機能的MRIと発達予後

    坂口 陽子, 城所 博之, 鈴木 健史, 川口 将宏, 牧 祐輝, 田中 雅大, 岡井 佑, 伊藤 祐史, 山本 啓之, 中田 智彦, 伊藤 美春, 佐藤 義朗, 早川 昌弘, 夏目 淳

    脳と発達   51 巻 ( Suppl. ) 頁: S275 - S275   2019年5月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

  40. 小児期発症の難治てんかんにおけるペランパネルの有効性

    川口 将宏, 鈴木 健史, 牧 祐輝, 田中 雅大, 岡井 佑, 坂口 陽子, 伊藤 祐史, 山本 啓之, 中田 智彦, 城所 博之, 根来 民子, 渡邉 一功, 夏目 淳

    脳と発達   51 巻 ( Suppl. ) 頁: S322 - S322   2019年5月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

  41. 中心・側頭部に棘波をもつ良性小児てんかんに類似するてんかんを合併したWorster-Drought syndromeの1例

    中田 智彦, 大野 敦子, 川口 将宏, 鈴木 健史, 牧 祐輝, 田中 雅大, 岡井 佑, 坂口 陽子, 伊藤 祐史, 山本 啓之, 城所 博之, 渡邊 一功, 夏目 淳

    脳と発達   51 巻 ( Suppl. ) 頁: S327 - S327   2019年5月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

  42. 非侵襲的な新規手法を用いた小児焦点性てんかんにおける術前評価(Novel noninvasive strategy for presurgical evaluation in a pediatric case of focal epilepsy)

    伊藤 祐史, 山本 啓之, 岡西 徹, 前澤 聡, 牧 祐輝, 田中 雅大, 坂口 陽子, 岡井 佑, 中田 智彦, 城所 博之, 夏目 淳

    脳と発達   51 巻 ( Suppl. ) 頁: S376 - S376   2019年5月

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    記述言語:英語   出版者・発行元:(一社)日本小児神経学会  

  43. CHRNG変異を有するEscobar症候群の3例

    中田 智彦, 水野 誠司, 牧 祐輝, 田中 雅大, 岡井 佑, 坂口 陽子, 山本 啓之, 大野 敦子, 城所 博之, 井本 逸勢, 大野 欽司, 夏目 淳

    脳と発達   50 巻 ( Suppl. ) 頁: S363 - S363   2018年5月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

  44. 東海地区におけるbright tree appearanceを呈する急性脳症の9年間の発症状況

    牧 祐輝, 田中 雅大, 岡井 佑, 坂口 陽子, 山本 啓之, 大野 敦子, 中田 智彦, 深沢 達也, 辻 健史, 城所 博之, 久保田 哲夫, 奥村 彰久, 齋藤 伸治, 夏目 淳

    脳と発達   50 巻 ( Suppl. ) 頁: S311 - S311   2018年5月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

  45. SENDAに認める脳波の異常高振幅速波

    城所 博之, 本林 光雄, 久保田 哲夫, 高野 亨子, 柴 直子, 坂口 陽子, 岡井 佑, 田中 雅大, 牧 祐輝, 山本 啓之, 大野 敦子, 中田 智彦, 村松 一洋, 横地 健治, 夏目 淳

    脳と発達   50 巻 ( Suppl. ) 頁: S332 - S332   2018年5月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

  46. PHACE症候群の1例

    大野 敦子, 牧 祐輝, 田中 雅大, 岡井 佑, 坂口 陽子, 山本 啓之, 中田 智彦, 村松 友佳子, 城所 博之, 夏目 淳

    脳と発達   50 巻 ( Suppl. ) 頁: S363 - S363   2018年5月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

  47. Cytotoxic edema at onset in West syndrome of unknown etiology: A longitudinal diffusion tensor imaging study 国際誌

    Ogawa Chikako, Kidokoro Hiroyuki, Fukasawa Tatsuya, Yamamoto Hiroyuki, Ishihara Naoko, Ito Yuji, Sakaguchi Yoko, Okai Yu, Ohno Atsuko, Nakata Tomohiko, Azuma Yoshiteru, Hattori Ayako, Kubota Tetsuo, Tsuji Takeshi, Hirakawa Akihiro, Kawai Hisashi, Natsume Jun

    EPILEPSIA   59 巻 ( 2 ) 頁: 440 - 448   2018年2月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Epilepsia  

    Objective: To clarify longitudinal changes in white matter microstructures from the onset of disease in patients with West syndrome (WS) of unknown etiology. Methods: Diffusion tensor imaging (DTI) was prospectively performed at onset and at 12 and 24 months old in 17 children with WS of unknown etiology. DTI was analyzed using tract-based spatial statistics (TBSS) and tract-specific analysis (TSA) of 13 fiber tracts, and fractional anisotropy (FA) and mean diffusivity (MD) were compared with those of 42 age-matched controls. Correlations of FA and MD with developmental quotient (DQ) at age 24 months were analyzed. Multiple comparisons were adjusted for using the false discovery rate (q-value). Results: TBSS analysis at onset showed higher FA and lower MD in the corpus callosum and brainstem in patients. TSA showed lower MD in bilateral uncinate fasciculi (UF) (right: q < 0.001; left: q = 0.03) at onset in patients. TBSS showed a negative correlation between FA at onset and DQ in the right frontal lobe, whereas FA at 24 months old exhibited a positive correlation with DQ in the diffuse white matter. MD for bilateral UF at 24 months old on TSA correlated positively with DQ (q = 0.04, both). Significance: These findings may indicate the existence of cytotoxic edema in the immature white matter and dorsal brainstem at onset, and subsequent alterations in the diffuse white matter in WS of unknown etiology. Microstructural development in the UF might play important roles in cognitive development in WS.

    DOI: 10.1111/epi.13988

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  48. 脳腫瘍により症候性West症候群を呈し、脳磁図で焦点が推定された一例

    山本 啓之, 寳珠山 稔, 三宅 未紗, 石丸 聡一郎, 石原 尚子, 前澤 聡, 田中 雅大, 岡井 佑, 坂口 陽子, 大野 敦子, 中田 智彦, 城所 博之, 夏目 淳

    てんかん研究   35 巻 ( 2 ) 頁: 550 - 550   2017年9月

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    記述言語:日本語   出版者・発行元:(一社)日本てんかん学会  

  49. Paroxysmal nonepileptic events in children with epilepsy 国際誌

    Ito Yuji, Kidokoro Hiroyuki, Negoro Tamiko, Tanaka Masaharu, Okai Yu, Sakaguchi Yoko, Ogawa Chikako, Takeuchi Tomoya, Ohno Atsuko, Yamamoto Hiroyuki, Nakata Tomohiko, Maesawa Satoshi, Watanabe Kazuyoshi, Takahashi Yoshiyuki, Natsume Jun

    EPILEPSY RESEARCH   132 巻   頁: 59 - 63   2017年5月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Epilepsy Research  

    Objective The aim of this study was to clarify the characteristics of paroxysmal nonepileptic events (PNEs) suspected as being epileptic seizures by families of children with epilepsy. Methods The video-EEG (vEEG) recordings of habitual paroxysmal events in children with epilepsy at Nagoya University Hospital between October 2006 and January 2016 were reviewed. Based on the doctor's suspicion before the vEEG, the PNEs were divided into two groups that included PNEs suspected as epileptic seizures and PNEs suspected as PNEs. PNEs in the former group were classified based on the suspected seizure type. Results Of 886 habitual paroxysmal events, vEEG confirmed that 83 events (68 children) were PNEs. The median age of the 68 children was 3.2 years. Concurrent epilepsies included focal epilepsies (n = 33), infantile spasms (n = 16), and other types (n = 19). The most common types of PNEs were sleep myoclonus (n = 11), followed by stereotypies (n = 9), awake myoclonus (n = 8), paroxysmal ocular deviations (PODs, n = 8), and tonic posturing (n = 8). Even after direct observation or video viewing, the doctors suspected epileptic seizures in all three of the PODs and two of the tonic posturing children. Before the vEEG, however, the accurate visual information led to the speculation that the four psychogenic and two sleep myoclonus events were all PNEs. Myoclonus, stereotypies, and head drops were often misdiagnosed as epileptic spasms, while PODs and tonic posturing were often misdiagnosed as focal seizures with motor components. Additionally, staring and motion arrest during a drowsy state were often misdiagnosed as focal dyscognitive seizures. Seven of eight patients with PODs had epileptic spasms that were concurrent with epileptic seizures. A diffuse cerebral lesion or reduced visual acuity was seen in seven patients with PODs. Conclusion We re-emphasize that vEEG is essential for accurate diagnosis and provides evidence for listing POD in the differential diagnosis of oculomotor paroxysmal events.

    DOI: 10.1016/j.eplepsyres.2017.02.009

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  50. てんかん脳磁図のdipole distribution解析による焦点、伝播経路診断

    山本 啓之, 寳珠山 稔, 白石 秀明, 岡西 徹, 前澤 聡, 田中 雅大, 坂口 陽子, 岡井 祐, 伊藤 祐史, 大野 敦子, 中田 智彦, 城所 博之, 夏目 淳

    脳と発達   49 巻 ( Suppl. ) 頁: S433 - S433   2017年5月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

  51. 急性脳症の低体温療法中脳波モニタリングの検討

    大野 敦子, 田中 雅大, 岡井 佑, 坂口 陽子, 伊藤 祐史, 山本 啓之, 中田 智彦, 城所 博之, 沼口 敦, 根来 民子, 渡邊 一功, 夏目 淳

    脳と発達   49 巻 ( Suppl. ) 頁: S348 - S348   2017年5月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

  52. 二相性に拡散強調画像の異常を認めた急性脳症の1例

    中田 智彦, 細川 洋輔, 梶田 光春, 田中 雅大, 岡井 佑, 坂口 陽子, 伊藤 祐史, 山本 啓之, 大野 敦子, 城所 博之, 夏目 淳

    脳と発達   49 巻 ( Suppl. ) 頁: S385 - S385   2017年5月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

  53. Recurrent bacteremia with different strains of Streptococcus pyogenes in an immunocompromised child. 国際誌

    Hattori T, Minami M, Narita K, Nakata T, Itomi S, Kubota K, Oya T, Nishiyama H, Kato H, Yuasa N

    Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy   22 巻 ( 6 ) 頁: 421 - 3   2016年6月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Journal of Infection and Chemotherapy  

    We report an immunocompromised child who experienced two episodes of bacteremia due to Streptococcus pyogenes. Random amplification of polymorphic DNA profiles, emm genotypes, superantigen profiles, antimicrobial susceptibility, and resistance-related genes were investigated, and the results showed different profiles between the two isolates. This is the first report describing recurrent bacteremia caused by different strains of S. pyogenes.

    DOI: 10.1016/j.jiac.2015.12.014

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  54. 急性脳炎・脳症の画像分類別にみた基礎疾患の検討

    中田 智彦, 岡井 佑, 大野 敦子, 伊藤 祐史, 小川 千香子, 城所 博之, 久保田 哲夫, 辻 健史, 安藤 直樹, 奥村 彰久, 齋藤 伸治, 夏目 淳

    脳と発達   48 巻 ( Suppl. ) 頁: S247 - S247   2016年5月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

  55. A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space 国際誌

    Iwata Satoshi, Ito Mikako, Nakata Tomohiko, Noguchi Yoichiro, Okuno Tatsuya, Ohkawara Bisei, Masuda Akio, Goto Tomohide, Adachi Masanori, Osaka Hitoshi, Nonaka Risa, Arikawa-Hirasawa Eri, Ohno Kinji

    NEUROMUSCULAR DISORDERS   25 巻 ( 8 ) 頁: 667 - 671   2015年8月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Neuromuscular Disorders  

    Schwartz-Jampel syndrome (SJS) type 1 is characterized by short stature, myotonia, and chondrodysplasia, and is caused by partial loss-of-function mutations in HSPG2 encoding perlecan. Six missense mutations have been reported in SJS to date and only one has been characterized using a recombinant protein. We report an 11-year-old Japanese boy with SJS, who shows "rigid" walking with less flexion of knees/ankles and protruded mouth. His intelligence is normal. We identified by whole genome resequencing a heterozygous missense p.Leu1088Pro in domain III-2 and a heterozygous nonsense p.Gln3061Ter in domain IV of perlecan. Expression studies revealed that p.Leu1088Pro markedly reduces the cellular expression of domain III-2 and almost nullifies its secretion into the culture medium. As five of the seven missense mutations in SJS affect domain III of perlecan, domain III is likely to be essential for secretion of perlecan into the extracellular space.

    DOI: 10.1016/j.nmd.2015.05.002

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  56. Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits 国際誌

    Azuma Yoshiteru, Nakata Tomohiko, Tanaka Motoki, Shen Xin-Ming, Ito Mikako, Iwata Satoshi, Okuno Tatsuya, Nomura Yoshiko, Ando Naoki, Ishigaki Keiko, Ohkawara Bisei, Masuda Akio, Natsume Jun, Kojima Seiji, Sokabe Masahiro, Ohno Kinji

    NEUROMUSCULAR DISORDERS   25 巻 ( 1 ) 頁: 60 - 69   2015年1月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Neuromuscular Disorders  

    Congenital myasthenic syndromes (CMS) are caused by mutations in genes expressed at the neuromuscular junction. Most CMS patients have been reported in Western and Middle Eastern countries, and only four patients with COLQ mutations have been reported in Japan. We here report six mutations in acetylcholine receptor (AChR) subunit genes in five Japanese patients. Five mutations are novel, and one mutation is shared with a European American patient but with a different haplotype. Among the observed mutations, p.Thr284Pro (p.Thr264Pro according to the legacy annotation) in the epsilon subunit causes a slow-channel CMS. Five other mutations in the delta and epsilon subunits are splice site, frameshift, null, or missense mutations causing endplate AChR deficiency. We also found a heteroallelic p.Met465Thr in the beta subunit in another patient. p.Met465Thr, however, was likely to be polymorphism, because single channel recordings showed mild shortening of channel openings without affecting cell surface expression of AChR, and the minor allelic frequency of p.Met465Thr was 5.1% in the Japanese population. Lack of shared mutant alleles between the Japanese and the other patients suggests that most mutations described here are ethnically unique or de novo in each family.

    DOI: 10.1016/j.nmd.2014.09.002

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  57. LRP4 third beta-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner 国際誌

    Ohkawara Bisei, Cabrera-Serrano Macarena, Nakata Tomohiko, Milone Margherita, Asai Nobuyuki, Ito Kenyu, Ito Mikako, Masuda Akio, Ito Yasutomo, Engel Andrew G., Ohno Kinji

    HUMAN MOLECULAR GENETICS   23 巻 ( 7 ) 頁: 1856 - 1868   2014年4月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)  

    DOI: 10.1093/hmg/ddt578

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  58. A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1 国際誌

    Kokunai Yosuke, Nakata Tomohiko, Furuta Mitsuru, Sakata Souhei, Kimura Hiromi, Aiba Takeshi, Yoshinaga Masao, Osaki Yusuke, Nakamori Masayuki, Itoh Hideki, Sato Takako, Kubota Tomoya, Kadota Kazushige, Shindo Katsuro, Mochizuki Hideki, Shimizu Wataru, Horie Minoru, Okamura Yasushi, Ohno Kinji, Takahashi Masanori P.

    NEUROLOGY   82 巻 ( 12 ) 頁: 1058 - 1064   2014年3月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Neurology  

    Objective: To identify other causative genes for Andersen-Tawil syndrome, which is characterized by a triad of periodic paralysis, cardiac arrhythmia, and dysmorphic features. Andersen-Tawil syndrome is caused in amajority of cases bymutations in KCNJ2,which encodes the Kir2.1 subunit of the inwardly rectifying potassium channel. Methods: The proband exhibited episodic flaccid weakness and a characteristic TU-wave pattern, both suggestive of Andersen-Tawil syndrome, but did not harbor KCNJ2 mutations. We performed exome capture resequencing by restricting the analysis to genes that encode ion channels/associated proteins. The expression of gene products in heart and skeletalmuscle tissues was examined by immunoblotting. The functional consequences of the mutation were investigated using a heterologous expression system in Xenopus oocytes, focusing on the interaction with the Kir2.1 subunit. Results: We identified a mutation in the KCNJ5 gene, which encodes the G-protein-activated inwardly rectifying potassium channel 4 (Kir3.4). Immunoblotting demonstrated significant expression of the Kir3.4 protein in human heart and skeletal muscles. The coexpression of Kir2.1 and mutant Kir3.4 in Xenopus oocytes reduced the inwardly rectifying current significantly compared with that observed in the presence of wild-type Kir3.4. Conclusions: We propose that KCNJ5 is a second gene causing Andersen-Tawil syndrome. The inhibitory effects of mutant Kir3.4 on inwardly rectifying potassium channels may account for the clinical presentation in both skeletal and heart muscles. © 2014 American Academy of Neurology.

    DOI: 10.1212/WNL.0000000000000239

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  59. [Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy].

    Atsuko Nishikawa, Madoka Mori-Yoshimura, Tomoko Okamoto, Yasushi Oya, Tomohiko Nakata, Kinji Ohno, Miho Murata

    Rinsho shinkeigaku = Clinical neurology   54 巻 ( 7 ) 頁: 561 - 4   2014年

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)  

    We report a 26-year-old woman who had respiratory dysfunction and muscle weakness at birth and was diagnosed with facioscapulohumeral dystrophy at the age of 5. The extent of muscle weakness fluctuated daily or weekly and deteriorated in menstrual periods. At the age of 12, she noted improvements in symptoms when taking procaterol hydrochloride and began to take it regularly. After that, her condition stabilized. At the age of 26, she visited our hospital presenting with ptosis, muscle weakness in the face, trunk, and proximal limbs, and easy fatigability. Serum CK was normal; anti-acetylcholine receptor and anti-muscle specific tyrosine kinase antibodies were negative. A repetitive stimulation test in the trapezius muscle showed a waning phenomenon. Gene analysis for congenital myasthenic syndrome (CMS) revealed a new mutation in the DOK7 gene; the diagnosis of CMS was confirmed. Her symptoms worsened with ambenonium chloride but improved with 3,4-diaminopyridine. Our findings suggest that daily or weekly fluctuation and worsening with a menses in muscle weakness is an important diagnostic feature of CMS.

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  60. Mutations in the C-Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ-MuSK Interaction 国際誌

    Nakata Tomohiko, Ito Mikako, Azuma Yoshiteru, Otsuka Kenji, Noguchi Yoichiro, Komaki Hirofumi, Okumura Akihisa, Shiraishi Kazuhiro, Masuda Akio, Natsume Jun, Kojima Seiji, Ohno Kinji

    HUMAN MUTATION   34 巻 ( 7 ) 頁: 997 - 1004   2013年7月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Human Mutation  

    Acetylcholinesterase (AChE) at the neuromuscular junction (NMJ) is mostly composed of an asymmetric form in which three tetramers of catalytic AChE subunits are linked to a triple helical collagen Q (ColQ). Mutations in COLQ cause endplate AChE deficiency. We report three patients with endplate AChE deficiency with five recessive COLQ mutations. Sedimentation profiles showed that p.Val322Asp and p.Arg227X, but not p.Cys444Tyr, p.Asp447His, or p.Arg452Cys, inhibit formation of triple helical ColQ. In vitro overlay of mutant ColQ-tailed AChE on muscle sections of Colq-/- mice revealed that p.Cys444Tyr, p.Asp447His, and p.Arg452Cys in the C-terminal domain (CTD) abrogate anchoring ColQ-tailed AChE to the NMJ. In vitro plate-binding assay similarly demonstrated that the three mutants inhibit binding of ColQ-tailed AChE to MuSK. We also confirmed the pathogenicity of p.Asp447His by treating Colq-/- mice with adeno-associated virus serotype 8 carrying mutant COLQ-p.Asp447His. The treated mice showed no improvement in motor functions and no anchoring of ColQ-tailed AChE at the NMJ. Electroporation of mutant COLQ harboring p.Cys444Tyr, p.Asp447His, and p.Arg452Cys into anterior tibial muscles of Colq-/- mice similarly failed to anchor ColQ-tailed AChE at the NMJ. We proved that the missense mutations in ColQ-CTD cause endplate AChE deficiency by compromising ColQ-MuSK interaction at the NMJ. Missense mutations in COLQ encoding collagen Q (ColQ) compromise binding of ColQ to MuSK and lead to endplate acetylcholinesterase (AChE) deficiency. Defective binding has been proven by an in vitro overlay assay of mutant ColQ on skeletal muscle of Colq-/- mice and by an in vitro plate-binding assay on purified MuSK. We also confirmed that AAV8-mediated gene transfer of mutant ColQ into Colq-/- mice failed to express ColQ at the neuromuscular junction and to improve the motor deficits. © 2013 WILEY PERIODICALS, INC.

    DOI: 10.1002/humu.22325

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  61. [Clinical features of congenital myasthenic syndrome in Japan].

    Kaori Irahara, Hirofumi Komaki, Ryoko Honda, Akihisa Okumura, Kazuhiro Shiraishi, Yuu Kobayashi, Yoshiteru Azuma, Tomohiko Nakata, Yasushi Ohya, Masayuki Sasaki

    No to hattatsu = Brain and development   44 巻 ( 6 ) 頁: 450 - 4   2012年11月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)  

    OBJECTIVE: We examined the clinical and neurophysiological features of Japanese patients with congenital myasthenic syndrome (CMS). METHOD: Subjects were five patients who were diagnosed with CMS on the basis of clinical course, repetitive nerve stimulation (RNS), and genetic analysis. RESULTS: Four patients manifested motor retardation within one year of birth, while one manifested motor intolerance at three years of age. The most characteristic symptom observed in all the patients was fluctuating muscle weakness, which varied on a daily basis or continued for several days after the late infancy period. Only one patient manifested daily fluctuation of muscle weakness. RNS of the accessory nerve evoked a decrementing response in three patients who were examined;however, RNS of the median, ulnar, and tibial nerves (one patient each) did not evoke such responses. After the edrophonium chloride test, no improvement was seen even if the patients manifested ptosis. For judgment of this test, improvement in decrementing rate observed while performing RNS was useful. All five patients who were administered medication based on the results of genetic analysis demonstrated an improvement in their symptoms. CONCLUSION: We suggest that CMS can be diagnosed based on careful examination and electrophysiological results. CMS is a treatable disorder, and therefore, correct diagnosis is important.

    PubMed

  62. A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes 国際誌

    Yoshinaga Harumi, Sakoda Shunichi, Good Jean-Marc, Takahashi Masanori P., Kubota Tomoya, Arikawa-Hirasawa Eri, Nakata Tomohiko, Ohno Kinji, Kitamura Tetsuro, Kobayashi Katsuhiro, Ohtsuka Yoko

    JOURNAL OF THE NEUROLOGICAL SCIENCES   315 巻 ( 1-2 ) 頁: 15 - 19   2012年4月

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    記述言語:日本語   掲載種別:研究論文(学術雑誌)   出版者・発行元:Journal of the Neurological Sciences  

    Mutations in the pore-forming subunit of the skeletal muscle sodium channel (SCN4A) are responsible for hyperkalemic periodic paralysis, paramyotonia congenita and sodium channel myotonia. These disorders are classified based on their cardinal symptoms, myotonia and/or paralysis. We report the case of a Japanese boy with a novel mutation of SCN4A, p.I693L, who exhibited severe episodic myotonia from infancy and later onset mild paralytic attack. He started to have apneic episodes with generalized hypertonia at age of 11 months, then developed severe episodic myotonia since 2 years of age. He presented characteristic generalized features which resembled Schwarz-Jampel syndrome. After 7 years old, paralytic episodes occurred several times a year. The compound muscle action potential did not change during short and long exercise tests. Functional analysis of the mutant channel expressed in cultured cell revealed enhancement of the activation and disruption of the slow inactivation, which were consistent with myotonia and paralytic attack. The severe clinical features in his infancy may correspond to myotonia permanence, however, he subsequently experienced paralytic attacks. This case provides an example of the complexity and overlap of the clinical features of sodium channel myotonic disorders. © 2011 Elsevier B.V. All rights reserved.

    DOI: 10.1016/j.jns.2011.12.015

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  63. Callosal lesions and delirious behavior during febrile illness. 国際誌

    Okumura A, Hayakawa F, Kato T, Suzuki M, Tsuji T, Fukumoto Y, Nakata T, Watanabe K, Morishima T

    Brain & development   31 巻 ( 2 ) 頁: 158 - 62   2009年2月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    DOI: 10.1016/j.braindev.2008.06.002

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MISC 1

  1. A Case of a 14-Year-Old Boy who had Difficulty Walking Due to Drug-Induced Neuropathy During T-Cell Acute Lymphocytic Leukemia Treatment

    Taro Yoshida, Aya Sawamura, Hideki Muramatsu, Masayuki Imaya, Ayako Yamamori, Manabu Wakamatsu, Shunsuke Miwata, Kotaro Narita, Hironobu Kitazawa, Rieko Taniguchi, Daisuke Ichikawa, Eri Nishikawa, Motoharu Hamada, Nozomu Kawashima, Atsushi Narita, Nobuhiro Nishio, Seiji Kojima, Tomohiko Nakata, Hiroyuki Kidokoro, Jun Natxume, Yoshiyuki Takahashi  

    PEDIATRIC BLOOD & CANCER66 巻   頁: S30 - S30   2019年12月

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    記述言語:英語   掲載種別:研究発表ペーパー・要旨(国際会議)   出版者・発行元:WILEY  

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科研費 2

  1. 安静時脳機能MRIを用いたけいれん重積型(二相性)急性脳症の診断と病態解明研究

    研究課題/研究課題番号:19K17326  2019年4月 - 2019年8月

    科学研究費補助金  若手研究

    中田 智彦

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    担当区分:研究代表者 

    配分額:512795円 ( 直接経費:394458円 、 間接経費:118337円 )

    小児急性脳症患者に対して安静時機能的MRIをおこない、早期診断、病態(脳機能ネットワークの異常)、低体温療法の効果判定、慢性期合併症(てんかん、知的能力症などの神経学的後遺症)の予後予測に有用であるかを検討する。
    小児急性脳症のうち最も頻度が高く神経学的後遺症の率が高い臨床症候群である「けいれん重積型(二相性)脳症」を対象とする。けいれん重積型(二相性)脳症の病態解明、早期診断法、有効な治療法の確立については様々な研究がなされてきたが未だ十分ではない。
    安静時機能的MRIは脳機能ネットワークを評価する撮像法である。小児急性脳症に対する安静時機能的MRIはこれまでおこなわれておらず新しい試みとなる。
    けいれん重積型(二相性)脳症(acute encephalopathy with biphasic seizures and late reduced diffusion; AESD)は小児急性脳症のうち最も頻度が高く、神経学的後遺症の率が高い臨床症候群である。現状では発症時にAESDと熱性けいれん重積(prolonged febrile seizure; PFS)あるいはAESDとは異なる病態による急性脳症との鑑別が十分にできないことが問題である。本研究では、安静時機能的MRI(resting-state functional MRI; rs-fMRI)が、AESDの早期診断、病態解明(脳機能ネットワークの異常)、治療効果判定、慢性期合併症(てんかん、知的能力症などの神経学的後遺症)の予後予測に有用かを検討することを目的とした。研究開始後は直ちに解析のための準備(PC、ソフトフェアの購入)と情報収集(学会参加)をおこなった。期間中の約3か月間には新規のAESD患者の受診はなった。AESDとは異なる急性脳症患者1名の受診があったが休日であり初回の緊急MRI撮像時にrs-MRIは得られなかった。rs-MRIは5-10分程度の追加で通常のMRI撮像時に加えることができるものの、休日夜間の緊急MRI検査時について今後検討が必要と考えた。新規の発症はなかったが最近になり慢性期(発症6か月)のAESD患者1名の経過観察の頭部MRI検査をおこなう機会があり、3テスラのMRI装置を使用しT1, T2強調画像, FLAIR, DWIに加えてrs-MRIについても問題なく実施しうることを確認した。慢性期の患者に対しては、seed-based analysisによりデフォルトモードネットワークの結合度を解析し、AESDに特徴的な脳神経ネットワークの障害パターンを検討する予定だった。

  2. Escobar症候群の分子病態解明とGFPT1先天性筋無力症候群の治療法開発研究

    研究課題/研究課題番号:16K19639  2016年4月 - 2019年3月

    日本学術振興会  科学研究費助成事業  若手研究(B)

    中田 智彦, 夏目 淳, 城所 博之, 大野 欽司, 伊藤 美佳子, 水野 誠司

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    担当区分:研究代表者 

    配分額:3770000円 ( 直接経費:2900000円 、 間接経費:870000円 )

    胎児型アセチルコリン受容体のひとつのサブユニットをコードするCHRNG遺伝子は、非致死型多発性翼状片症候群であるEscobar症候群の原因遺伝子である。本研究ではEscobar症候群の遺伝子診断、臨床像の解明、同定した変異の機能解析をおこなった。多発関節拘縮を示す2家系3人にCHRNG遺伝子変異を共通するミスセンス変異を含んだ複合ヘテロ接合性に同定した。3人とも遠位型の多発関節拘縮を持つがEscobar症候群に特徴的とされる翼状片は極軽度だった。ミスセンス変異について培養細胞を用いた発現実験およびチャネル動態解析をおこない、本変異が胎児型ファーストチャネル症候群を起こすことを明らかにした。
    これまで成人型の骨格筋アセチルコリン受容体のチャネル動態異常による疾患は先天性筋無力症候群の一型として報告されているが、胎児型アセチルコリン受容体での報告はなかった。今回Escobar症候群3症例で同定した共通の遺伝子変異について胎児型アセチルコリン受容体の機能解析をおこない、発現量の低下とチャネル開口時間の異常によることを明らかにした。3症例は臨床像が類似しており、Escobar症候群で特徴的とされている翼状片が非常に軽微だった。先天性多発関節拘縮症には多数の原因があるが、翼状片が軽微であってもCHRNG変異を考える必要がある。