Updated on 2025/08/22

写真a

 
FUKUMURA Shinobu
 
Organization
School of Medicine Department of Pediatrics Associate Professor
Title
Associate Professor
Profile

小児神経専門です。主にてんかんおよび遺伝性疾患の研究、臨床を行っています。

External link

Degree

  • 医学博士 ( 2018.3   札幌医科大学 )

Research Interests

  • 遺伝

  • てんかん

  • 再生医療

Research Areas

  • Life Science / Embryonic medicine and pediatrics  / てんかん

Professional Memberships

Committee Memberships

  • 日本てんかん学会   評議員  

    2021.8   

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  • 日本小児神経学会   評議員  

    2019   

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  • 人類遺伝学会   評議員  

    2016 - 2019   

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Papers

  • Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing. International journal

    Kazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, Shinobu Fukumura, Keitaro Yamada, Ikumi Hori, Kenji Shimizu, Sachiko Miyamoto, Kaori Yamoto, Takuya Hiraide, Kazuki Watanabe, Shintaro Aoki, Shogo Furukawa, Taiju Hayashi, Masaharu Isogai, Takuma Harasaki, Mitsuko Nakashima, Hirotomo Saitsu

    Scientific reports   14 ( 1 )   24746 - 24746   2024.10

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

    Variant annotations are crucial for efficient identification of pathogenic variants. In this study, we retrospectively analyzed the utility of four annotation tools (allele frequency, ClinVar, SpliceAI, and Phenomatcher) in identifying 271 pathogenic single nucleotide and small insertion/deletion variants (SNVs/small indels). Although variant filtering based on allele frequency is essential for narrowing down on candidate variants, we found that 13 de novo pathogenic variants in autosomal dominant or X-linked dominant genes are registered in gnomADv4.0 or 54KJPN, with an allele frequency of less than 0.001%, suggesting that very rare variants in large cohort data can be pathogenic de novo variants. Notably, 38.4% candidate SNVs/small indels are registered in the ClinVar database as pathogenic or likely pathogenic, which highlights the significance of this database. SpliceAI can detect candidate variants affecting RNA splicing, leading to the identification of four variants located 11 to 50 bp away from the exon-intron boundary. Prioritization of candidate genes by proband phenotype using the PhenoMatcher module revealed that approximately 95% of the candidate genes had a maximum PhenoMatch score ≥ 0.6, suggesting the utility of phenotype-based variant prioritization. Our results suggest that a combination of multiple annotation tools and appropriate evaluation can improve the diagnosis of rare diseases.

    DOI： 10.1038/s41598-024-75020-0

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  • Therapeutic efficacy of intravenous infusion of mesenchymal stem cells in rat perinatal brain injury. International journal

    Kojiro Terada, Masanori Sasaki, Hiroshi Nagahama, Yuko Kataoka-Sasaki, Shinichi Oka, Ryo Ukai, Takahiro Yokoyama, Yusuke Iizuka, Takuro Sakai, Shinobu Fukumura, Takeshi Tsugawa, Jeffery D Kocsis, Osamu Honmou

    Pediatric research   2023.7

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

    BACKGROUND: Perinatal brain injury is multifactorial and primarily associated with brain prematurity, inflammation, and hypoxia-ischemia. Although recent advances in perinatal medicine have improved the survival rates of preterm infants, neurodevelopmental disorders remain a significant complication. We tested whether the intravenous infusion of mesenchymal stem cells (MSCs) had therapeutic efficacy against perinatal brain injury in rats. METHODS: Pregnant rats at embryonic day (E) 18 received lipopolysaccharide and the pups were born at E21. On postnatal day (PND) 7, the left common carotid artery of each pup was ligated, and they were exposed to 8% oxygen for 2 h. They were randomized on PND10, and MSCs or vehicle were intravenously infused. We performed behavioral assessments, measured brain volume using MRI, and performed histological analyses on PND49. RESULTS: Infused MSCs showed functional improvements in our model. In vivo MRI revealed that MSC infusion increased non-ischemic brain volume compared to the vehicle group. Histological analyses showed that cortical thickness, the number of NeuN+ and GAD67+ cells, and synaptophysin density in the non-ischemic hemisphere in the MSC group were greater than the vehicle group, but less than the control group. CONCLUSIONS: Infused MSCs improve sensorimotor and cognitive functions in perinatal brain injury and enhance neuronal growth. IMPACT: Intravenous infusion of MSCs improved neurological function in rats with perinatal brain injury, including motor, sensorimotor, cognitive, spatial, and learning memory. Infused MSCs increased residual (non-ischemic) tissue volume, number of neuronal cells, GABAergic cells, and cortical synapses in the contralesional (right) hemisphere. Intravenous administration of MSC might be suitable for the treatment of perinatal brain injury.

    DOI： 10.1038/s41390-023-02717-9

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  • 高クレアチンキナーゼ血症から偶発的に診断されたベッカー型7例を含む筋ジストロフィー9例の臨床的検討

    伊藤 拓郎, 福村 忍, 土田 晃輔, 山本 晃代, 津川 毅, 安藤 悠開, 下村 遼太郎, 飯塚 裕典, 星野 恵美子, 櫻井 のどか, 平川 賢史, 布施 茂登, 森 俊彦

    臨床小児医学   70 ( 1-6 )   15 - 19   2023.3

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    Language：Japanese   Publisher：(財)小児愛育協会  

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  • 聴覚失認を合併した欠神てんかんの1例

    山本 晃代, 土田 晃輔, 加藤 辰輔, 福村 忍, 小笠原 徳子

    てんかん研究   40 ( 1 )   86 - 87   2022.6

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    Language：Japanese   Publisher：(一社)日本てんかん学会  

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  • 聴覚失認を合併した欠神てんかんの1例

    山本 晃代, 土田 晃輔, 加藤 辰輔, 福村 忍, 小笠原 徳子

    てんかん研究   40 ( 1 )   86 - 87   2022.6

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  • 重度の低髄鞘化および精神運動発達遅滞を認めた新規TMEM63Aバリアントの1例

    福村 忍, 平出 拓也, 山本 晃代, 土田 晃輔, 青戸 一司, 中島 光子, 才津 浩智

    脳と発達   54 ( Suppl. )   S214 - S214   2022.5

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  • 過去6年間にてんかん外科治療を行った小児てんかん患者11例のまとめ

    山本 晃代, 土田 晃輔, 福村 忍, 越智 さと子, 菅野 彩, 江夏 怜, 三國 信啓

    脳と発達   54 ( Suppl. )   S216 - S216   2022.5

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  • A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome. International journal

    Kazuyuki Komatsu, Shinobu Fukumura, Kimio Minagawa, Mitsuko Nakashima, Hirotomo Saitsu

    Brain & development   44 ( 7 )   474 - 479   2022.4

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    BACKGROUND: The PRRT2 gene located at 16p11.2 encodes proline-rich transmembrane protein 2. In recent reviews, clinical spectrum caused by pathogenic PRRT2 variants is designated as PRRT2-associated paroxysmal movement disorders, which include paroxysmal kinesigenic dyskinesia, benign familial infantile epilepsy, and infantile convulsions with choreoathetosis, and hemiplegic migraine. The recurrent 16p11.2 microdeletion encompassing PRRT2 has also been reported to cause neurodevelopmental syndrome, associated with autism spectrum disorder. Although PRRT2 variants and 16p11.2 microdeletion cause each disease with the autosomal dominant manner, rare cases with bi-allelic PRRT2 variants or concurrent existence of PRRT2 variants and 16p11.2 microdeletion have been reported to show more severe phenotypes. CASE REPORT: A 22-year-old man presents with episodic ataxia, paroxysmal kinesigenic dyskinesia, seizure, intellectual disability and autism spectrum disorder. He also has obesity, hypertension, hyperuricemia, and mild liver dysfunction. Exome sequencing revealed a c.649dup variant in PRRT2 in one allele and a de novo 16p11.2 microdeletion in another allele. CONCLUSIONS: Our case showed combined clinical features of PRRT2-associated paroxysmal movement disorders and 16p11.2 microdeletion syndrome. We reviewed previous literatures and discussed phenotypic features of patients who completely lack the PRRT2 protein.

    DOI： 10.1016/j.braindev.2022.03.008

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  • 繰り返す腰椎穿刺により脳脊髄液漏出をきたした脊髄性筋萎縮症I型の1例

    加藤 辰輔, 土田 晃輔, 福村 忍, 津川 毅

    臨床小児医学   69 ( 1-6 )   55 - 59   2022.3

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    Language：Japanese   Publisher：(財)小児愛育協会  

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  • Two novel heterozygous variants in ATP1A3 cause movement disorders. International journal

    Shogo Furukawa, Sachiko Miyamoto, Shinobu Fukumura, Kazuo Kubota, Toshiaki Taga, Mitsuko Nakashima, Hirotomo Saitsu

    Human genome variation   9 ( 1 )   7 - 7   2022.2

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    Variants in ATP1A3 cause neuropsychiatric disorders, especially those characterized by movement disorders. In this study, we performed whole exome sequencing for two patients with movement disorders and identified two novel heterozygous ATP1A3 variants, a missense c.2408G>A variant and an indel c.2672_2688+10delinsCAG variant. The unique indel variant occurred at the exon-intron boundary at the 3' end of exon 19, and mRNA analysis revealed that this variant caused in-frame indel alteration at the Ser891_Trp896 residue.

    DOI： 10.1038/s41439-022-00184-y

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  • An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation. International journal

    Sachiko Miyamoto, Mitsuko Nakashima, Shinobu Fukumura, Satoko Kumada, Hirotomo Saitsu

    Neurogenetics   23 ( 2 )   129 - 135   2022.2

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    GNAO1 variants are associated with a wide range of neurodevelopmental disorders including epileptic encephalopathies and movement disorders. It has been reported that some GNAO1 variants are associated with movement disorders, and the 207-246 amino acid region was proposed as a mutational hotspot. Here, we report an intronic variant (NM_020988.3:c.724-8G>A) in GNAO1 in a Japanese girl who showed mild developmental delay and movement disorders including dystonia and myoclonus. Her movement disorders were improved by deep brain stimulation treatment as previously reported. This variant has been recurrently reported in four patients and was transmitted from her mother who possessed the variant as low-prevalent mosaicism. Using RNA extracted from lymphoblastoid cells derived from the patient, we demonstrated that the variant caused abnormal splicing of in-frame 6-bp intronic retention, leading to 2 amino acid insertion (p.Thr241_Asn242insProGln). Immunoblotting and immunostaining using WT and mutant GNAO1 vectors showed no significant differences in protein expression levels, but the cellular localization pattern of this mutant was partially shifted to the cytoplasm whereas WT was exclusively localized in the cellular membrane. Our report first clarified abnormal splicing and resulting mutant protein caused by the c.724-8G>A variant.

    DOI： 10.1007/s10048-022-00686-5

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  • A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay. International journal

    Shinobu Fukumura, Takuya Hiraide, Akiyo Yamamoto, Kousuke Tsuchida, Kazushi Aoto, Mitsuko Nakashima, Hirotomo Saitsu

    Brain & development   44 ( 2 )   178 - 183   2021.9

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    BACKGROUND: Heterozygous variants in TMEM63A have been recently identified as the cause of infantile-onset transient hypomyelination. To date, four TMEM63A variants have been reported in five patients. These patients exhibited favorable clinical course, developmental progress, and completion of myelination. CASE REPORT: The patient was a 5-year-old girl with severe global developmental delay, absent speech, no turning over, no gazing, hypotonia, and daily episodes of autonomic seizures. Brain MRI showed hypomyelination of deep and subcortical white matter that appeared hyperintense in T2-weighted imaging from 2 months of age and that showed no change at 4 years of age. Exome sequencing of the patient and her parents revealed a novel de novo missense variant, NM_014698.3:c.1658G>T, p.(Gly553Val), in the TMEM63A gene, which was confirmed by Sanger sequencing. The variant has not been registered in public databases, and it substitutes a highly conserved glycine residue located in a pore-lining transmembrane helix. No other candidate variants were identified. CONCLUSIONS: Although TMEM63A variants are generally thought to cause transient hypomyelination with favorable developmental progress, identification of a de novo TMEM63A variant in our patient suggests that the TMEM63A-related clinical spectrum is broad and includes severe developmental delay with seizures.

    DOI： 10.1016/j.braindev.2021.09.006

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  • レスベラトロールによる筋ジストロフィーの治療

    福村 忍, 川村 健太郎, 山本 晃代, 堀尾 嘉幸, 久野 篤史, 堤 裕幸

    BIO Clinica   36 ( 9 )   910 - 914   2021.8

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    Language：Japanese   Publisher：(株)北隆館  

    Ichushi

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  • KCNJ5遺伝子バリアントは不完全浸透を示し家族性周期性四肢麻痺の原因になる

    平出 拓也, 福村 忍, 山本 晃代, 中島 光子, 才津 浩智

    脳と発達   53 ( Suppl. )   S238 - S238   2021.5

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    Language：Japanese   Publisher：(一社)日本小児神経学会  

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  • A case of paroxysmal kinesigenic dyskinesia suspected to be reflex epilepsy.

    Chie Nakayama-Kamada, Rei Enatsu, Shinobu Fukumura, Tomoyoshi Kuribara, Satoko Ochi, Nobuhiro Mikuni

    Nagoya journal of medical science   83 ( 2 )   361 - 365   2021.5

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    An 11-year-old male patient developed weakness or right arm elevation after sudden movement at the age of eight. Reflex epilepsy was initially suspected; however, magnetic resonance imaging and electroencephalography (EEG) revealed no abnormality. Video-EEG monitoring was performed, but no change was noted during attacks of weakness. He was diagnosed with paroxysmal kinesigenic dyskinesia (PKD) and carbamazepine has stopped his attacks. PKD is a rare neurological disorder characterized by brief attacks of involuntary movement triggered by sudden voluntary movements, which may be confused with reflex epilepsy. PKD should be considered as a differential diagnosis of reflex epilepsy.

    DOI： 10.18999/nagjms.83.2.361

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  • FGF14遺伝子バリアントを認めた発作性非運動誘発性ジスキネジアの1例

    土田 晃輔, 福村 忍, 加藤 辰輔, 續 晶子, 平出 拓也, 中島 光子, 才津 浩智, 川崎 幸彦

    脳と発達   53 ( Suppl. )   S235 - S235   2021.5

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  • Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance. International journal

    Takuya Hiraide, Shinobu Fukumura, Akiyo Yamamoto, Mitsuko Nakashima, Hirotomo Saitsu

    Brain & development   43 ( 3 )   470 - 474   2021.3

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    BACKGROUND: The periodic paralyses are a group of skeletal muscle channelopathies caused by variants in several ion channel genes. Potassium Inwardly Rectifying Channel Subfamily J Member 5 (KCNJ5) encodes the G-protein-activated inwardly rectifying potassium channel 4 (Kir3.4) and the heterozygous KCNJ5 variants cause familial hyperaldosteronism and long QT syndrome (LQTS). Recent studies suggested that variants in KCNJ5 are also causative for Andersen-Tawil syndrome, which showed periodic paralysis and characteristic electrocardiogram features. CLINICAL REPORT: We found a heterozygous KCNJ5 variant c.1159G > C, p.(Gly387Arg) in an individual with familial periodic paralysis using exome sequencing. Sanger sequencing revealed that this variant was inherited from his affected mother. The same variant had been previously found in two cases of familial LQTS or Andersen-Tawil syndrome, and functional analysis suggested that this variant might have loss of function effect on channel activity. However, the allele frequency of c.1159G > C variant in an East Asian population of public databases ranged from 0.21% to 0.25%, indicating possible incomplete penetrance. CONCLUSIONS: Our two patients expand the phenotypic spectrum associated with the c.1159G > C KCNJ5 variant, though the variant has very low penetrance.

    DOI： 10.1016/j.braindev.2020.10.010

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  • IQSEC2遺伝子の新規突然変異による発達性てんかん性脳症の男児例 Reviewed

    田中 亮介, 黒田 真実, 竹口 諒, 福村 忍, 要 匡, 高橋 悟

    脳と発達   53 ( 2 )   129 - 132   2021.3

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  • Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review

    Akiyo Yamamoto, Shinobu Fukumura, Yumi Habata, Sachiko Miyamoto, Mitsuko Nakashima, Shigeo Takashima, Yukihiko Kawasaki, Nobuyuki Shimozawa, Hirotomo Saitsu

    Child Neurology Open   8   2329048X2110486 - 2329048X2110486   2021.1

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    Publishing type：Research paper (scientific journal)   Publisher：SAGE Publications  

    D-bifunctional protein (DBP) deficiency is a peroxisomal disorder with a high degree of phenotypic heterogeneity. Some patients with DBP deficiency develop progressive leukodystrophy in childhood. We report a 6-year-old boy with moderate hearing loss who presented with developmental regression. Brain magnetic resonance imaging demonstrated progressive leukodystrophy. However, very long chain fatty acids (VLCFAs) in the plasma were at normal levels. Whole-exome sequencing revealed compound heterozygous variants in HSD17B4 (NM_000414.3:c.[350A > T];[394C > T], p.[[Asp117Val]];[[Arg132Trp]]). The c.394C > T variant has been identified in patients with DBP deficiency and is classified as likely pathogenic, while the c.350A > T variant was novel and classified as uncertain significance. Although one of the two variants was classified as uncertain significance, an accumulation of phytanic and pristanic acids was identified in the patient, confirming type III DBP deficiency. DBP deficiency should be considered as a diagnosis in children with progressive leukodystrophy and hearing loss even if VLCFAs are within normal levels.

    Other Link： http://journals.sagepub.com/doi/full-xml/10.1177/2329048X211048613

    DOI： 10.1177/2329048x211048613

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  • Resveratrol improves motor function in patients with muscular dystrophies: an open-label, single-arm, phase IIa study. International journal

    Kentaro Kawamura, Shinobu Fukumura, Koki Nikaido, Nobutada Tachi, Naoki Kozuka, Tsugumi Seino, Kingya Hatakeyama, Mitsuru Mori, Yoichi M Ito, Akiyoshi Takami, Shiro Hinotsu, Atsushi Kuno, Yukihiko Kawasaki, Yoshiyuki Horio, Hiroyuki Tsutsumi

    Scientific reports   10 ( 1 )   20585 - 20585   2020.11

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    Muscular dystrophies (MDs) are inherited disorders characterized by progressive muscle weakness. Previously, we have shown that resveratrol (3,5,4'-trihydroxy-trans-stilbene), an antioxidant and an activator of the protein deacetylase SIRT1, decreases muscular and cardiac oxidative damage and improves pathophysiological conditions in animal MD models. To determine whether resveratrol provides therapeutic benefits to patients with MDs, an open-label, single-arm, phase IIa trial of resveratrol was conducted in 11 patients with Duchenne, Becker or Fukuyama MD. The daily dose of resveratrol was 500 mg/day, which was increased every 8 weeks to 1000 and then 1500 mg/day. Primary outcomes were motor function, evaluated by a motor function measure (MFM) scale, muscular strength, monitored with quantitative muscle testing (QMT), and serum creatine kinase (CK) levels. Adverse effects and tolerability were evaluated as secondary outcomes. Despite the advanced medical conditions of the patients, the mean MFM scores increased significantly from 34.6 to 38.4 after 24 weeks of medication. A twofold increase was found in the mean QMT scores of scapula elevation and shoulder abduction. Mean CK levels decreased considerably by 34%. Diarrhoea and abdominal pain was noted in six and three patients, respectively. Resveratrol may provide some benefit to MD patients.

    DOI： 10.1038/s41598-020-77197-6

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  • IQSEC2遺伝子の新規突然変異による発達性てんかん性脳症の男児例

    田中 亮介, 黒田 真実, 竹口 諒, 福村 忍, 高橋 悟

    脳と発達   52 ( Suppl. )   S223 - S223   2020.8

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    Language：Japanese   Publisher：(一社)日本小児神経学会  

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  • Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome. Reviewed

    Shinobu Fukumura

    J Neurol Sci   407   116521   2019.6

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    Authorship：Lead author,　Corresponding author  

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  • Functional recovery after the systemic administration of mesenchymal stem cells in a rat model of neonatal hypoxia-ischemia. Reviewed International journal

    Sakai T, Sasaki M, Kataoka-Sasaki Y, Oka S, Nakazaki M, Fukumura S, Kobayashi M, Tsutsumi H, Kocsis JD, Honmou O

    Journal of neurosurgery. Pediatrics   22 ( 5 )   1 - 10   2018.8

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    The authors intravenously infused mesenchymal stem cells (MSCs) into a rat model of neonatal hypoxia-ischemia and found improvements in functional outcome, increased brain volume, and enhanced synaptogenesis. The results of this animal study suggest that the intravenous administration of MSCs should be further explored as a potential treatment for patients suffering from cerebral palsy after hypoxic-ischemic encephalopathy.

    DOI： 10.3171/2018.5.PEDS1845

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  • 胎生期の甲状腺機能異常が原因と思われた大後頭孔狭窄

    浜田 亮, 山本 晃代, 福村 忍, 石井 玲, 竹内 孝子, 鎌崎 穂高, 堤 裕幸

    日本小児科学会雑誌   122 ( 7 )   1255 - 1255   2018.7

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  • Rapidly progressive fatal idiopathic hypertrophic pachymeningitis with brainstem involvement in a child Reviewed

    Kosuke Tsuchida, Shinobu Fukumura, Akiyo Yamamoto, Yukinori Akiyama, Hiroshi Hirano, Hiroyuki Tsutsumi

    Child's Nervous System   34 ( 9 )   1 - 4   2018.5

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Springer Verlag  

    DOI： 10.1007/s00381-018-3819-5

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  • Intravenous infusion of mesenchymal stem cells reduces epileptogenesis in a rat model of status epilepticus Reviewed

    Shinobu Fukumura, Masanori Sasaki, Yuko Kataoka-Sasaki, Shinichi Oka, Masahito Nakazaki, Hiroshi Nagahama, Tomonori Morita, Takuro Sakai, Hiroyuki Tsutsumi, Jeffery D. Kocsis, Osamu Honmou

    Epilepsy Research   141   56 - 63   2018.3

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Elsevier B.V.  

    DOI： 10.1016/j.eplepsyres.2018.02.008

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  • Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood Reviewed

    Kohji Kato, Seiji Mizuno, Mie Inaba, Shinobu Fukumura, Naoko Kurahashi, Koichi Maruyama, Daisuke Ieda, Kei Ohashi, Ikumi Hori, Yutaka Negishi, Ayako Hattori, Shinji Saitoh

    Brain and Development   40 ( 8 )   678 - 684   2018

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Elsevier B.V.  

    DOI： 10.1016/j.braindev.2018.04.008

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  • Clinical and mutational spectrum of Charcot–Marie–Tooth disease type 2Z caused by MORC2 variants in Japan Reviewed

    M. Ando, Y. Okamoto, A. Yoshimura, J. H. Yuan, Y. Hiramatsu, Y. Higuchi, A. Hashiguchi, J. Mitsui, H. Ishiura, S. Fukumura, M. Matsushima, N. Ochi, J. Tsugawa, S. Morishita, S. Tsuji, H. Takashima

    European Journal of Neurology   24 ( 10 )   1274 - 1282   2017.10

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Blackwell Publishing Ltd  

    DOI： 10.1111/ene.13360

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  • Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) Reviewed

    Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa

    PLOS ONE   12 ( 8 )   e0181791   2017.8

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    DOI： 10.1371/journal.pone.0181791

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  • A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly Reviewed

    Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Yoshikazu Johmura, Motoo Nakagawa, Naoki Ando, Ikumi Hori, Takao Togawa, Kohei Aoyama, Kei Ohashi, Shinobu Fukumura, Seiji Mizuno, Ayako Umemura, Yoko Kishimoto, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Makoto Nakanishi, Shinji Saitoh

    BMC MEDICAL GENETICS   18 ( 1 )   4   2017.1

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

    DOI： 10.1186/s12881-016-0363-6

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  • Short-term efficacy and safety of rufinamide for Lennox-Gastaut syndrome. Reviewed

    Takayama R, Fukumura S, Minagawa K, Watanabe T

    No to hattatsu = Brain and development   48 ( 5 )   322 - 326   2016.9

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    <p>  <i><b>Objective:</b></i> We examined the short-term efficacy and safety of rufinamide (RFN) in patients with Lennox-Gastaut syndrome (LGS). <i><b>Methods:</b></i> We performed a retrospective review of clinical records of patients with LGS who started RFN treatment between July 2013 and June 2014 at the Hokkaido Medical Center for Child Health and Rehabilitation and Midorigaoka Ryo-iku-en. Efficacy and safety were evaluated when the patients had completed three months of treatment. Patients were classified into four categories according to percent seizure reduction : remission (seizure-free), response (seizure reduction≥50%), no change (seizure reduction<50% or increase) and aggravation (seizure increase≥50%). Responder rate (RR) was the percentage of patients with≥50% decrease in seizure frequency. <i><b>Results:</b></i> Thirteen LGS patients (8 males, 5 females) were studied. The efficacy for tonic seizures (13 patients) was remission 1 patient, response 3 patients, no change 8 patients and aggravation 1 patient, with RR of 30.8%. Two patients discontinued LGS due to seizure aggravation. Four patients experienced transient remission. For generalized tonic clonic seizures (2 patients), 1 patient achieved remission and 1 patient showed no change. Two patients of atonic seizures showed no change. Of 2 patients of atypical absence, 1 patient showed response and 1 patient no change. Eight patients had adverse effects such as somnolence (6 patients), sleep disturbance (1 patient), and appetite loss (4 patients) including weight loss in 2 patients. There were no severe adverse effects and no discontinuation due to adverse effects. <i><b>Conclusions:</b></i> Short-term effectiveness for tonic seizures was observed when patients with LGS were treated with RFN, with transient remission in some patients. We consider that RFN is worth trying in patients with LGS due to its efficacy for tonic seizures and absence of severe adverse effects.</p>

    DOI： 10.11251/ojjscn.48.332

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  • ミトコンドリア病に対するケトン食療法の経験

    高山 留美子, 小笠原 真志, 渡邊 年秀, 福村 忍

    脳と発達   48 ( 4 )   297 - 297   2016.7

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    Ichushi

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  • Subcortical heterotopia appearing as huge midline mass in the newborn brain Reviewed

    Shinobu Fukumura, Toshihide Watanabe, Sachiko Kimura, Satoko Ochi, Kazuhisa Yoshifuji, Hiroyuki Tsutsumi

    CHILDS NERVOUS SYSTEM   32 ( 2 )   377 - 380   2016.2

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    DOI： 10.1007/s00381-015-2841-0

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  • A Mutation in the Tubulin-Encoding <i>TUBB3</i> Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis. Reviewed

    Fukumura S, Kato M, Kawamura K, Tsuzuki A, Tsutsumi H

    Child neurology open   3   2329048X16665758   2016.1

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  • 難治性てんかんに対するステロイドパルス治療の経験

    高山 留美子, 小笠原 真志, 福村 忍, 高橋 幸利, 渡邊 年秀

    てんかん研究   33 ( 2 )   544 - 544   2015.9

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  • Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita Reviewed

    Shinobu Fukumura, Chihiro Ohba, Toshihide Watanabe, Kimio Minagawa, Masaru Shimura, Kei Murayama, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto, Hiroyuki Tsutsumi

    JOURNAL OF HUMAN GENETICS   60 ( 9 )   509 - 513   2015.9

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    DOI： 10.1038/jhg.2015.57

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  • Everolimus Treatment for an Early Infantile Subependymal Giant Cell Astrocytoma With Tuberous Sclerosis Complex Reviewed

    Shinobu Fukumura, Toshihide Watanabe, Rumiko Takayama, Kimio Minagawa, Hiroyuki Tsutsumi

    JOURNAL OF CHILD NEUROLOGY   30 ( 9 )   1192 - 1195   2015.8

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    DOI： 10.1177/0883073814544703

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  • 重症筋無力症眼筋型と鑑別を要した慢性進行性外眼筋麻痺の1例

    小笠原 真志, 福村 忍, 高山 留美子, 渡辺 年秀

    脳と発達   47 ( 4 )   314 - 314   2015.7

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  • Paroxysmal Tonic Upward Gaze Complicating Angelman Syndrome Reviewed

    Shinobu Fukumura, Toshihide Watanabe, Rumiko Takayama, Hiroyuki Tsutsumi

    PEDIATRIC NEUROLOGY   52 ( 1 )   125 - 127   2015.1

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    DOI： 10.1016/j.pediatrneurol.2014.08.022

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  • Importance of measuring blood level of lamotrigine for optimum dosing schedule Reviewed

    Kimio Minagawa, Toshihide Watanabe, Reiki Oyanagi, Shinobu Fukumura

    No To Hattatsu   46 ( 5 )   345 - 349   2014.9

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  • Macrocephaly-capillary malformationの3例

    小笠原 真志, 福村 忍, 高山 留美子, 渡邊 年秀, 香取 さやか, 續 晶子, 須藤 章

    脳と発達   46 ( Suppl. )   S279 - S279   2014.5

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    Ichushi

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  • Effect of neurotropin on chronic headaches in children Reviewed

    Yoshiaki Saito, Shinobu Fukumura, Takashi Saito, Hirofumi Komaki, Eiji Nakagawa, Kenji Sugai, Masayuki Sasaki

    No To Hattatsu   44 ( 6 )   477 - 481   2012.11

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    DOI： 10.11251/ojjscn.44.477

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  • Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis Reviewed

    Shinobu Fukumura, Yoshiaki Saito, Takashi Saito, Hirofumi Komaki, Eiji Nakagawa, Kenji Sugai, Masayuki Sasaki, Akira Oka, Itaru Takamisawa

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY   54 ( 7 )   663 - 666   2012.7

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    DOI： 10.1111/j.1469-8749.2011.04170.x

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  • Perioral myoclonia with absencesの1例

    福村 忍, 齋藤 貴志, 斎藤 義朗, 小牧 宏文, 中川 栄二, 須貝 研司, 佐々木 征行, 佐藤 研

    脳と発達   44 ( Suppl. )   S218 - S218   2012.5

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  • Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells Reviewed

    Masafumi Yamada, Yuka Okura, Yasuto Suzuki, Shinobu Fukumura, Toru Miyazaki, Hisami Ikeda, Shun-Ichiro Takezaki, Nobuaki Kawamura, Ichiro Kobayashi, Tadashi Ariga

    GENE   497 ( 1 )   110 - 115   2012.4

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    DOI： 10.1016/j.gene.2012.01.019

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  • てんかんの病態生理学の進歩 小児難治性てんかんにおけるNIRSを用いた言語優位半球決定の試み

    福村 忍, 中川 栄二, 真柄 慎一, 岡崎 哲也, 比屋根 真彦, 石山 昭彦, 齋藤 貴志, 斎藤 義朗, 小牧 宏文, 須貝 研司, 佐々木 征行, 高橋 章夫, 大槻 泰介

    臨床神経生理学   39 ( 5 )   395 - 395   2011.10

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  • A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease Reviewed

    Shinobu Fukumura, Noriaki Adachi, Masayoshi Nagao, Hiroyuki Tsutsumi

    BRAIN & DEVELOPMENT   33 ( 8 )   697 - 699   2011.9

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    DOI： 10.1016/j.braindev.2010.11.010

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  • β2ミクログロブリンを用いた重症心身障害児(者)における近位尿細管障害の評価

    乾 健彦, 福村 忍, 苛原 香, 鋤柄 小百合, 服部 文子, 齋藤 貴志, 佐久間 啓, 斎藤 義朗, 小牧 宏文, 中川 栄二, 須貝 研司, 佐々木 征行

    日本重症心身障害学会誌   35 ( 2 )   305 - 305   2010.8

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  • A case of Pitt-Hopkins syndrome

    FUKUMURA S, TACHI N

    NO TO HATTATSU   41 ( 5 )   365 - 367   2009.9

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    Other Link： http://search.jamas.or.jp/link/ui/2010027681

    DOI： 10.11251/ojjscn.41.365

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  • 可逆性脳梁膨大部病変を伴った軽症急性脳症の2例

    會田 久美子, 小原 治枝, 神保 圭祐, 福村 忍, 鈴木 将史, 笹島 知大, 大屋 一博, 安保 亘, 対馬 史泰, 澁谷 剛一, 緑川 宏, 木村 義治

    臨床小児医学   55 ( 3-4 )   71 - 75   2007.8

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MISC

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Awards

  • 優秀English Session賞

    2018.6   第60回日本小児神経学会学術集会  

    福村 忍

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  • 第１回優秀論文賞

    2016.3   日本小児神経学会北海道地方会  

    福村 忍

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  • 第4回奨励賞

    2012.3   日本小児神経学会北海道地方会  

    福村 忍

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Research Projects

  • Development of a novel treatment for intractable epilepsy using bone marrow mesenchymal stem cells and elucidation of its mechanis

    Grant number：22K07938  2022.4 - 2025.3

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C)  Grant-in-Aid for Scientific Research (C)

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    Grant amount：\4290000 （ Direct Cost: \3300000 、 Indirect Cost：\990000 ）

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  • Mesenchymal stem cells for brain injury of prematurity in a rat model.

    Grant number：20K08163  2020.4 - 2023.3

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

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    Grant amount：\4290000 （ Direct Cost: \3300000 、 Indirect Cost：\990000 ）

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  • The development of novel therapies for intractable epilepsy with bone marrow mesenchymal stem cells

    Grant number：19K08256  2019.4 - 2022.3

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C)  Grant-in-Aid for Scientific Research (C)

    Fukumura Shinobu

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    Grant amount：\4290000 （ Direct Cost: \3300000 、 Indirect Cost：\990000 ）

    The present study tested the hypothesis that systemically infused mesenchymal stem cells (MSCs) improve epilepsy in a rat model of chronic epilepsy. Status epilepticus (SE) was induced using the lithium-pilocarpine injection. MSCs or vehicle (DMEM only, no cells) were administered intravenously to rats with chronic epilepsy on the 60th day after lithium-pilocarpine-induced SE. The number of seizures was lower in the MSC-treated group than in the vehicle-treated group. Furthermore, frequency analysis demonstrated that the percentage of gamma-band on the electroencephalography was also lower in the MSC-treated group than in the vehicle-treated group. These suggest that MSCs effectively reduced the number of seizures and excitability in the chronic phase of epilepsy.

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  • 橋渡し研究支援 骨髄間葉系幹細胞移植による難治性慢性てんかんの革新的治療法の開発

    2018.8 - 2019.3

    ノーステック財団  札幌ライフサイエンス産業活性化事業 

    福村 忍

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    Authorship：Principal investigator  Grant type：Competitive

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  • スタートアップ支援 骨髄間葉系幹細胞移植による難治性てんかんの革新的治療法の開発

    2017.8 - 2018.3

    ノーステック財団  札幌ライフサイエンス産業活性化事業 

    福村 忍

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    Authorship：Principal investigator  Grant type：Competitive

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  • 骨髄間葉系幹細胞移植を用いた難治性てんかんに対する新規治療法の開発

    2016.4 - 2019.3

    日本学術振興会および文部科学省  科学研究費助成事業基盤研究C 

    福村 忍

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    Authorship：Principal investigator  Grant type：Competitive

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  • ＜奨励＞骨髄間葉系幹細胞移植による難治性てんかん治療の開発

    2015.4 - 2016.3

    公益財団法人 秋山記念生命科学振興財団  2015年度研究助成 

    福村 忍

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    Authorship：Principal investigator  Grant type：Competitive

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  • Ｈ26年度若手研究人材・ネットワーク育成補助金 難治性てんかんに対する骨髄間葉系幹細胞移植療法の開発

    2014.8 - 2015.3

    ノーステック財団  若手研究人材育成事業 

    福村 忍

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    Authorship：Principal investigator  Grant type：Competitive

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  • Therapeutic Effects of Intravenous Infusion of MSCs in Hypoxic-Ischemic Encephalopathy Rat

    Grant number：26462168  2014.4 - 2017.3

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

    Sakai Takuro, HONMOU Osamu

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    Grant amount：\4160000 （ Direct Cost: \3200000 、 Indirect Cost：\960000 ）

    We aimed to investigate the effect of mesenchymal stem cells (MSCs) transplantation in a rat model of neonatal hypoxic-ischemic encephalopathy (HIE) by histological, MRI, and behavioral analysis. At postnatal day 7, rats were underwent HI by left common carotid artery occlusion followed by 120 min hypoxia (8% oxygen). At postnatal day 10, transplantation of MSCs was performed by intravenous injection. Compared with the vehicle (control) group, the MSC infused group showed a significant improvement in athletic performance by the evaluation with the beam walk test. The MRI also demonstrated that the MSC infused group showed a significant reduction of the ischemic volume compared to the vehicle group. Collectively, intravenous infusion of MSCs might provide therapeutic efficacy in a rat model of HIE.

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