Faculty Profiles - TAKASHIMA Hiroshi

Papers - TAKASHIMA Hiroshi

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Nishikura N, Yamagata T, Morimune T, Matsui J, Sokoda T, Sawai C, Sakaue Y, Higuchi Y, Hashiguchi A, Takashima H, Takeuchi Y, Maruo Y . X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness. . Brain & development41 ( 2 ) 201 - 204 2019.2Reviewed International journal

Nishikura Noriko, Yamagata Takanori, Morimune Takao, Matsui Jun, Sokoda Tatsuyuki, Sawai Chihiro, Sakaue Yuko, Higuchi Yujiro, Hashiguchi Akihiro, Takashima Hiroshi, Takeuchi Yoshihiro, Maruo Yoshihiro . 発熱後に再発する虚脱感を呈した5型X連鎖Charcot-Marie-Tooth病(X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness) . Brain & Development41 ( 2 ) 201 - 204 2019.2発熱後に再発する虚脱感を呈した5型X連鎖Charcot-Marie-Tooth病(X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness)

Publisher：エルゼビア・ジャパン(株)

症例1は13歳男児で、出生時から言語習得前難聴が認められた。8歳から11歳にかけて、呼吸器感染症に罹患した後に突然発症の筋力低下を計3回にわたり繰り返していた。12歳時に行った神経伝導検査では、遠位下肢における複合筋活動電位(CMAP)の低下がみられ、13歳時、歩行障害、反射低下および難聴を認めた。症例2は症例1の弟。生後1年目に言語習得前難聴がみられ、2歳ごろから発熱後の歩行困難を呈していた。8歳時に受診となり、神経学的検査で膝関節と足関節の反射低下、重度の近位筋力低下を認めた。頭部・脊椎・筋MRIでは異常所見なく、髄液検査でも異常はなかった。神経伝導検査でCMAPの低下、脛骨神経と総合腓骨神経の一時的分散がみられた。ニューロパシー関連遺伝子72個のSangerシークエンス解析を行ったところ、PRSP1遺伝子内に新規c.319A>C半接合ミスセンス変異が検出された。発端者は半接合変異、母親はヘテロ接合変異を有することが判明し、5型X連鎖Charcot-Marie-Tooth病との確定診断を得た。

Miyabayashi Takuya, Ochiai Tatsuhiro, Suzuki Naoki, Aoki Masashi, Inui Takehiko, Okubo Yukimune, Sato Ryo, Togashi Noriko, Takashima Hiroshi, Ishiura Hiroyuki, Tsuji Shoji, Koh Kishin, Takiyama Yoshihisa, Haginoya Kazuhiro . 早発性痙性対麻痺および晩発性感覚運動性ポリニューロパチー患者におけるTFG遺伝子の新規ホモ接合性変異(A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy) . Journal of Human Genetics64 ( 2 ) 171 - 176 2019.2早発性痙性対麻痺および晩発性感覚運動性ポリニューロパチー患者におけるTFG遺伝子の新規ホモ接合性変異(A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy)

Publisher：Nature Publishing Group

本報では日本人初の常染色体劣性遺伝性痙性対麻痺(SPG57)患者を報告し、4番目のSPG57遺伝子型の新規変異体について報告した。症例は43歳女性で、いとこ婚による健常両親の第3子として出生し、長兄も同様の病歴を有し、次兄は原因不明の軽度知覚障害を伴っていた。本例は3〜4歳で自立歩行となり、三輪車にも乗れたが、5歳で歩行困難を来し、脳性麻痺と診断された。10歳時には自立歩行困難になったが、知能は正常で、専門学校を卒業後は事務員として勤務していた。30歳で緑内障を発症し、39歳で腰痛のため来院した際に、痙性両麻痺および遠位優性末梢性感覚運動障害を指摘された。全エクソーム解析等の遺伝学的解析により、病原性変異として、tropomyosin-receptor kinase fused gene(TFG)のエクソン3にホモ接合性ミスセンス変異体c.197T>C:p.Ile66Thrが同定され、SPG57と確定診断された。

Jumpei Togawa, Takekazu Ohi, Jun-Hui Yuan, Hiroshi Takashima, Hirokazu Furuya, Shinji Takechi, Junko Fujitake, Saki Hayashi, Hiroyuki Ishiura, Hiroya Naruse, Jun Mitsui, Shoji Tsuji . Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy. . Internal medicine (Tokyo, Japan)58 ( 13 ) 1851 - 1858 2019Reviewed International journal

Language：English Publishing type：Research paper (scientific journal) Publisher：The Japanese Society of Internal Medicine

Objective Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterized by the progressive loss of the upper and lower motor neurons that progresses to paralysis of almost all skeletal muscles of the extremities, bulbar, and respiratory system. Although most ALS cases are sporadic, about 10% are dominantly inherited. We herein report an atypical phenotype of familial ALS (fALS). To elucidate the phenotype-genotype correlation of this atypical phenotype of fALS, clinical and genetic investigations were performed. Methods and Patients Five sibling patients (three men, two women) from a Japanese family and one healthy sibling (a woman) were clinically interviewed and examined. Genetic analyses, including genome-wide linkage analyses and whole-exome sequencing, were performed using genomic DNA extracted from the peripheral blood samples of these siblings. Results The clinical features of fALS are characterized by slow progression (mean duration of the disease±standard deviation [SD]: 19.6±3.9 years) and lower extremities-predominant late-onset muscular weakness (mean onset of muscular weakness±SD: 52.8±2.6 years). Genetic analyses revealed novel heterozygous missense mutations of c.2668C>T, p.R890C in the PLEC gene and c.421G>C, p.V141L in the ST3GAL6 gene in all affected siblings. Conclusion A new atypical fALS family with a benign clinical course is herein reported. We identified two candidate gene mutations of PLEC and ST3GAL6 linked to this phenotype.

DOI： 10.2169/internalmedicine.2222-18

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髙嶋博 . 自己免疫性脳症の臨床症候と治療の実際―ヒステリーとの鑑別― . 神経治療学36 ( 6 ) S154 - S154 2019

Shojima Yuri, Nishioka Kenya, Watanabe Masao, Jo Takayuki, Tanaka Keiko, Takashima Hiroshi, Noda Kazuyuki, Okuma Yasuyuki, Urabe Takao, Yokoyama Kazumasa, Hattori Nobutaka . Clinical Characterization of Definite Autoimmune Limbic Encephalitis: A 30-case Series . Internal Medicine58 ( 23 ) 3369 - 3378 2019Invited International journal

Language：English Publisher：The Japanese Society of Internal Medicine

Objective Limbic encephalitis (LE) is an inflammatory condition of the limbic system that has an acute or subacute onset. Several types of antibodies are related to the onset of LE, including anti-N-methyl D-aspartate receptor (NMDAR) antibodies and voltage-gated potassium channel (VGKC)-complex antibodies. However, the characteristics and prevalence of LE remain unclear, especially in Asian cohorts, due to the rarity. We aimed to survey their characteristics. Materials and Methods Data of 30 cases clinically defined as "definite autoimmune LE" (based on the standard criteria) were retrospectively collected. These patients were categorized into four subtypes: NMDAR (+) (n=8), VGKC (+) (n=2), antibodies related to paraneoplastic syndrome (n=2), and an antibody-negative group (uncategorized) (n=18). Results LE is rare in Japan, and affected only 30 of 16,759 hospital patients (0.2%) over a ten-year period. The NMDAR (+) group showed distinctive symptoms, while the other three groups had similar indications. Brain MRI indicated significant medial temporal lobe atrophy at one year follow up after discharge. The prevalence of cognitive dysfunction as a complication was 64% (9/14). First-line immunotherapy resulted in a good outcome. A drastic improvement was seen from 4.0±1.1 to 1.1+ on the modified Rankin Scale. A good treatment outcome was observed in all groups (NMDAR, VGKC, and uncategorized), suggesting the importance of an early clinical diagnosis and the early initiation of treatment. Furthermore, we reviewed 26 cases that were clinically diagnosed as definitive autoimmune LE in previous case reports. Conclusion Our findings show that the establishment of a clinical diagnosis based on the clinical criteria of definitive autoimmune LE is important for the initiation of immunotherapy.

DOI： 10.2169/internalmedicine.3029-19

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Sakiyama Yusuke, Takashima Hiroshi . Review/Advances in Neurological Therapeutics (2018). Spinocerebellar degeneration . Neurological Therapeutics36 ( 5 ) 580 - 583 2019Reviewed

Authorship：Last author Language：Japanese Publisher：Japanese Society of Neurological Therapeutics

We reviewed the recent advances in therapeutics of spinocerebellar degeneration (SCD) that were published in 2018. This article introduces the outline of therapies with mesenchymal stem cells, cerebello–spinal tDCS, betamethasone, and cyclodextrin. We expect that these treatments will contribute to patients with cerebellar motor dysfunction and ataxia.

DOI： 10.15082/jsnt.36.5_580

Yamagishi Y, Samukawa M, Kuwahara M, Takada K, Saigoh K, Mitsui Y, Oka N, Hashiguchi A, Takashima H, Kusunoki S. . Charcot-Marie-Tooth disease with a mutation in FBLN5 accompanying with the small vasculitis and widespread onion-bulb formations. . J Neurol Sci410 116623 2019Charcot-Marie-Tooth disease with a mutation in FBLN5 accompanying with the small vasculitis and widespread onion-bulb formations.Reviewed

Shima T, Yamamoto Y, Kanazawa N, Murata KY, Ito H, Kondo T, Yuan J, Hashiguchi A, Takashima H, Furukawa F . Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II. . The Journal of dermatology45 ( 11 ) 308 - 309 2018.11Reviewed

Takanashi M, Funayama M, Matsuura E, Yoshino H, Li Y, Tsuyama S, Takashima H, Nishioka K, Hattori N . Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations. . Acta neuropathologica communications6 ( 1 ) 105 - 105 2018.10Reviewed International journal

Language：English Publishing type：Research paper (scientific journal)

Leucine-rich repeat kinase 2 (LRRK2) is the most common causative gene for autosomal dominant Parkinson's disease (PD) and is also known to be a susceptibility gene for sporadic PD. Although clinical symptoms with LRRK2 mutations are similar to those in sporadic PD, their pathologies are heterogeneous and include nigral degeneration with abnormal inclusions containing alpha-synuclein, tau, TAR DNA-binding protein 43, and ubiquitin, or pure nigral degeneration with no protein aggregation pathologies. We discovered two families harboring heterozygous and homozygous c.4332 G > A; p.R1441H in LRRK2 with consanguinity, sharing a common founder. They lived in the city of Makurazaki, located in a rural area of the southern region, the Kagoshima prefecture, in Kyushu, Japan. All patients presented late-onset parkinsonism without apparent cognitive decline and demonstrated a good response to levodopa. We obtained three autopsied cases that all presented with isolated nigral degeneration with no alpha-synuclein or other protein inclusions. This is the first report of neuropathological findings in patients with LRRK2 p.R1441H mutations that includes both homozygous and heterozygous mutations. Our findings in this study suggest that isolated nigral degeneration is the primary pathology in patients with LRRK2 p.R1441H mutations, and that protein aggregation of alpha-synuclein or tau might be secondary changes.

DOI： 10.1186/s40478-018-0617-y

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Sakiyama Y, Matsuura E, Maki Y, Yoshimura A, Ando M, Nomura M, Shinohara K, Saigo R, Nakamura T, Hashiguchi A, Takashima H . Peripheral neuropathy in a case with CADASIL: a case report. . BMC neurology18 ( 1 ) 134 - 134 2018.8Reviewed International journal

Mizokami Taichiro, Uwatoko Takeshi, Furukawa Takashi, Higashi Eiji, Sakaki Yusuke, Suetsugi Natsuki, Takamatsu Yuichiro, Matsumoto Kenichi, Takashima Hiroshi, Sugimori Hiroshi, Sakata Shuji . 経橈骨動脈アプローチによる後方循環の急性期再開通療法(Transradial Approach for Mechanical Thrombectomy of Posterior Circulation Stroke) . JNET: Journal of Neuroendovascular Therapy12 ( 6 ) 314 - 319 2018.6経橈骨動脈アプローチによる後方循環の急性期再開通療法(Transradial Approach for Mechanical Thrombectomy of Posterior Circulation Stroke)

Publisher：(NPO)日本脳神経血管内治療学会

目的)治療時間短縮のために、初回のアプローチルートとして橈骨動脈アプローチ(Transradial Approach:TRA)を選択した後方循環の急性期再開通療法について報告する。症例)2015年11月から2017年3月の期間に、4例の後方循環主幹動脈閉塞症に対してTRAを用いて急性期再開通療法をおこなった。TRAは術前のMRIで右側の椎骨動脈(Vertebral Artery:VA)が優位である症例において初回のアプローチルートとして用いた。全例でアプローチルートの変更なく手技を完遂でき、TICI2b以上の再開通を全例の100%に、TICI3の再開通を3例の75.0%で得られた。橈骨動脈穿刺から初回の頭蓋内造影までの時間は7.3±1.5分で、有効再開通までの治療時間は28.8±6.2分であった。穿刺部合併症は認めなかった。結論)橈骨動脈アプローチを初回から行った後方循環の急性期再開通療法では、迅速で確実な再開通が得られた。右VAにアプローチ可能な症例では第一選択として利用できる可能性が示唆された。(著者抄録)

Vuu My Dung, Dang Ngoc Anh Suong, Yuji Okamaoto, Yu Hiramatsu, Dang Thi Phuong Thao, Hideki Yoshida, Hiroshi Takashima, Masamitsu Yamaguchi . Neuron-specific knockdown of Drosophila PDHB induces reduction of lifespan, deficient locomotive ability, abnormal morphology of motor neuron terminals and photoreceptor axon targeting . Experimental Cell Research366 ( 2 ) 92 - 102 2018.5Reviewed International journal

Language：English Publisher：Elsevier Inc.

Pyruvate dehydrogenase complex deficiency (PDCD) is a common primary cause of defects in mitochondrial function and also can lead to peripheral neuropathy. Pyruvate dehydrogenase E1 component subunit beta (PDHB) is a subunit of pyruvate dehydrogenase E1, which is a well-known component of PDC. In Drosophila melanogaster, the CG11876 (dPDHB) gene is a homolog of human PDHB. In this study, we established a Drosophila model with neuron-specific knockdown of dPDHB to investigate its role in neuropathy pathogenesis. Knockdown of dPDHB in pan-neurons induced locomotor defects in both larval and adult stages, which were consistent with abnormal morphology of the motor neuron terminals at neuromuscular junctions and mitochondrial fragmentation in brains. Moreover, neuron-specific knockdown of dPDHB also shortened the lifespan of adult flies. In addition, flies with knockdown of dPDHB manifested a rough eye phenotype and aberrant photoreceptor axon targeting. These results with the Drosophila model suggest the involvement of PDHB in peripheral neuropathy.

DOI： 10.1016/j.yexcr.2018.02.035

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Yuan JH, Hashiguchi A, Okamoto Y, Yoshimura A, Ando M, Shiomi K, Saito K, Takahashi M, Ichinose K, Ohmichi T, Ichikawa K, Tadashi A, Takigawa H, Shibayama H, Takashima H. . Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2. . J Hum Genet 2018.3Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.Reviewed

Dung VM, Suong DNA, Okamaoto Y, Hiramatsu Y, Thao DTP, Yoshida H, Takashima H, Yamaguchi M. . Neuron-specific knockdown of Drosophila PDHB induces reduction of lifespan, deficient locomotive ability, abnormal morphology of motor neuron terminals and photoreceptor axon targeting. . Exp Cell Res 2018.2Neuron-specific knockdown of Drosophila PDHB induces reduction of lifespan, deficient locomotive ability, abnormal morphology of motor neuron terminals and photoreceptor axon targeting.Reviewed

Fujisaki N, Suwazono S, Suehara M, Nakachi R, Kido M, Fujiwara Y, Oshiro S, Tokashiki T, Takashima H, Nakagawa M.　 . The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients. . Intractable Rare Dis Res 2018.2The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients.Reviewed

Azusa Ikeda, Sumimasa Yamashita, Yu Tsuyusaki, Mio Tanaka, Yukichi Tanaka, Akihiro Hashiguchi, Hiroshi Takashima, Tomohide Goto . Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1. . Brain & development40 ( 2 ) 155 - 158 2018.2Reviewed International journal

Language：English Publishing type：Research paper (scientific journal)

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is characterized by severe respiratory failure due to diaphragmatic paralysis and distal muscular weakness in early infancy. After an initial decline in respiratory state and motor function until 1-2years of age, residual capabilities reach a plateau. We report the peripheral neuropathological findings of a patient with SMARD1 at 1year and 1month of age, when his muscle strength and respiratory symptoms had deteriorated and then stabilized for several months. Peripheral nerve biopsy revealed severely progressed axonal degeneration. This finding suggests the rapid progression of peripheral axonal neuropathy in SMARD1 that leads to its characteristic clinical course of respiratory failure and paralysis in the early infantile period.

DOI： 10.1016/j.braindev.2017.08.004

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Fujisaki Natsumi, Suwazono Shugo, Suehara Masahito, Nakachi Ryo, Kido Miwako, Fujiwara Yoshihisa, Oshiro Saki, Tokashiki Takashi, Takashima Hiroshi, Nakagawa Masanori . 日本人患者97例における近位筋優位遺伝性運動感覚ニューロパチー(HMSN-P)の自然歴(The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement(HMSN-P) in 97 Japanese patients) . IRDR: Intractable & Rare Diseases Research7 ( 1 ) 7 - 12 2018.2日本人患者97例における近位筋優位遺伝性運動感覚ニューロパチー(HMSN-P)の自然歴(The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement(HMSN-P) in 97 Japanese patients)

Publisher：IACMHR.Co.,Ltd.

1980年以降の30年間に当院で検査を受けた近位筋優位遺伝性運動感覚ニューロパチー(HMSN-P)患者130例のうち、詳細な診療録を確認できた97例(男性55例、女性42例、初診時年齢中央値48.5歳)の臨床経過を評価した。評価項目として、初診時の年齢、疼痛性筋痙攣の発症年齢、上/下肢筋力、知覚、起立、歩行、嚥下、呼吸、死亡年齢、初診時のCK値、TRK-fused gene(TFG)の変異型などを調べた。さらに疾患進行期の嚥下障害、呼吸不全、気管切開術、死亡年齢、死亡時の状況などを確認した。97例中79例でTFG変異を検査し、その全例でp.Pro285 Leu変異であることが確認された。発症には20〜30年の個人差があり、進行にも大きな個人差があった。

Minami Kazushi, Takahashi Shinichi, Nihei Yoshihiro, Oki Koichi, Suzuki Shigeaki, Ito Daisuke, Takashima Hiroshi, Suzuki Norihiro . BSCL2 N88S変異を有するseipinopathyの初の日本人症例報告(The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation) . Internal Medicine57 ( 4 ) 613 - 615 2018.2BSCL2 N88S変異を有するseipinopathyの初の日本人症例報告(The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation)Reviewed International journal

Language：English Publisher：(一社)日本内科学会

症例は63歳女性で、小学生の頃はランニングなどの運動が得意ではなく、30歳時に次第に歩行が困難になった。60歳時に両手、63歳時に両足の脱力と筋萎縮を自覚した。身体検査で二頭筋、三頭筋、腕橈骨筋、膝の両側反射亢進、凹足、両手・両足の遠位優位の筋萎縮・脱力が明らかになった。バビンスキー反射およびチャドック反射は陰性であったが、左トレムナー反射は陽性であった。針筋電図で両側第一背側骨間筋および前脛骨筋に慢性神経因性変化が認められ、遺伝子解析ではBSCL2遺伝子のp.N88Sにヘテロ変異が明らかになった。BSCL2遺伝子変異は小胞体ストレスを介して運動ニューロン変性を引き起こすことが知られている。筋萎縮性側索硬化症に類似した症状を呈する患者では、Seipinopathyを考慮すべきであることが示唆された。

Ikeda Azusa, Yamashita Sumimasa, Tsuyusaki Yu, Tanaka Mio, Tanaka Yukichi, Hashiguchi Akihiro, Takashima Hiroshi, Goto Tomohide . 呼吸窮迫を伴う脊髄性筋萎縮症1型のfixed stageにおける末梢神経病態(Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1) . Brain & Development40 ( 2 ) 155 - 158 2018.2呼吸窮迫を伴う脊髄性筋萎縮症1型のfixed stageにおける末梢神経病態(Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1)Reviewed International journal

Language：English Publisher：エルゼビア・ジャパン(株)

症例は男児で、妊娠36週で子宮内胎児発育遅延が明らかになり、妊娠39週で出生した。出生時より筋緊張低下、弱い泣き声、内反尖足が認められた。生後4ヵ月でも頭部を持ち上げることができず、その後、呼吸器感染症による急性呼吸不全のため入院となった。呼吸窮迫がみられ、身体検査では下肢の反射消失、軽度凹足があり、上肢の深部腱反射が弱かった。脳MRIでは白質量の減少が認められ、生後5ヵ月時の神経伝導検査では上肢の複合筋活動電位と運動伝道速度の減少が示された。筋電図検査では下肢に神経原性パターンが明らかになった。生後8ヵ月で気管開口術を施行し、在宅人工呼吸療法を継続したところ、呼吸状態と筋力が安定した。1歳1ヵ月時に腓腹神経生検を施行し、神経原性筋萎縮症が認められた。患児と両親の遺伝性末梢神経障害に対する遺伝子検査を実施した。IGHMBP2遺伝子の複合ヘテロ接合性変異(c826C>T、p.Gln276*とc.1702C>T、p.Gln568*)が検出された。1歳4ヵ月時には様々な顔面表情がみられ、名前の呼びかけに反応した。

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<TAKASHIMA Hiroshi>

Papers - TAKASHIMA Hiroshi