Faculty Profiles - Ishiura Hiroyuki

Papers - Ishiura Hiroyuki

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A Role of Aging in the Progression of Cortical Excitability in Benign Adult Familial Myoclonus Epilepsy type 1 Patients. International journal

Shuichiro Neshige, Takefumi Hitomi, Maya Tojima, Kazuki Oi, Katsuya Kobayashi, Masao Matsuhashi, Akihiro Shimotake, Riki Matsumoto, Masutaro Kanda, Hirofumi Maruyama, Hiroyuki Ishiura, Shoji Tsuji, Ryosuke Takahashi, Akio Ikeda

Movement disorders : official journal of the Movement Disorder Society 36 ( 10 ) 2446 - 2448 2021.7

腰曲がりで発症し、筋逸脱酵素上昇・筋MRI所見から当初筋疾患も疑った運動ニューロン疾患の1例

水上颯, 大久保颯, 内上寛一, 清水潤, 濱田雅, 石浦浩之, 佐竹渉, 戸田達史

日本内科学会関東地方会 670回 40 - 40 2021.7

Randomized phase 2 study of perampanel for sporadic amyotrophic lateral sclerosis. International journal

Hitoshi Aizawa, Haruhisa Kato, Koji Oba, Takuya Kawahara, Yoshihiko Okubo, Tomoko Saito, Makiko Naito, Makoto Urushitani, Akira Tamaoka, Kiyotaka Nakamagoe, Kazuhiro Ishii, Takashi Kanda, Masahisa Katsuno, Naoki Atsuta, Yasushi Maeda, Makiko Nagai, Kazutoshi Nishiyama, Hiroyuki Ishiura, Tatsushi Toda, Akihiro Kawata, Koji Abe, Ichiro Yabe, Ikuko Takahashi-Iwata, Hidenao Sasaki, Hitoshi Warita, Masashi Aoki, Gen Sobue, Hidehiro Mizusawa, Yutaka Matsuyama, Tomohiro Haga, Shin Kwak

Journal of neurology 269 ( 2 ) 885 - 896 2021.6

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

OBJECTIVE: To evaluate the efficacy and safety of perampanel in patients with sporadic amyotrophic lateral sclerosis (SALS). METHODS: This randomized, double-blind, placebo-controlled, multicenter, phase 2 clinical study was conducted at 12 sites. Patients with probable or definite ALS as defined by revised El Escorial criteria were enrolled. Sixty-six patients were randomly assigned (1:1:1) to receive placebo, 4 mg perampanel, or 8 mg perampanel daily for 48 weeks. Adverse events (AEs) were recorded throughout the trial period. The primary efficacy outcome was the change in Amyotrophic Lateral Sclerosis Rating Scale-Revised (ALSFRS-R) score after 48 weeks of treatment. RESULTS: One patient withdrew before starting the treatment. Of 65 patients included, 18 of 22 patients randomized to placebo (82%), 14 of 22 patients randomized to 4 mg perampanel (64%), and 7 of 21 patients randomized to 8 mg perampanel (33%) completed the trial. There was a significant difference in the change of ALSFRS-R scores [- 8.4 (95% CI - 13.9 to - 2.9); p = 0.015] between the placebo and the perampanel 8 mg group, primarily due to worsening of the bulbar subscore in the perampanel 8 mg group. Serious AEs were more frequent in the perampanel 8 mg group than in the placebo group (p = 0.0483). CONCLUSIONS: Perampanel was associated with a significant decline in ALSFRS-R score and was linked to worsening of the bulbar subscore in the 8 mg group.

DOI： 10.1007/s00415-021-10670-y

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A Case of Irreversible Corneal Edema Associated with Dentatorubropallidoluysian Atrophy Following Corneal Endothelial Transplantation

Yumi Hashimoto, Jun Mitsui, Hiroyuki Ishiura, Takashi Matsukawa, Tatsushi Toda, Koji Kakisu, Yuichi Hori, Suguru Nakagawa, Tetsuya Toyono, Junko Yoshida, Tomohiko Usui, Satoru Yamagami, Makoto Aihara, Takashi Miyai

SN Comprehensive Clinical Medicine 2021.6

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. International journal

Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M Santorelli, Ahmed A Alfares, Changlian Zhu, Anna Uhrova Meszarosova, Elham Alehabib, Somayeh Bakhtiari, Andreas R Janecke, Maria Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P van de Warrenburg, Ruben Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilguvar, Sherifa Hamed, Mohammed Abdelhameed, Nourelhoda A Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair Pagnamenta, Nick W Wood, Frederic Tran Mau-Them, Tobias Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary J H Willis, Katheryn Grand, John M Graham, Richard A Lewis, Francisca Millan, Özgür Duman, Nihal Dündar, Gökhan Uyanik, Ludger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Catala Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean-Jacques Medard, Roman Chrast, Michaela Auer-Grumbach, Fowzan S Alkuraya, Hanan Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horvath, Henry Houlden, Luca Bartesaghi, Hwei-Jen Lee, Konstantinos Ampatzis, Tyler Mark Pierson, Jan Senderek

Brain : a journal of neurology 2021.5

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

Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays.

DOI： 10.1093/brain/awab041

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脳神経内科医を対象とした遺伝カウンセリング・ロールプレイの試み

竹内千仙, 神原容子, 西郷和真, 矢部一郎, 石浦浩之, 松川敬志, 池川敦子, 柴田有花, 張香理, 吉田邦広

日本遺伝カウンセリング学会誌 42 ( 1 ) 143 - 152 2021.5

Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review. International journal

Yuka Shibata, Masaaki Matsushima, Takashi Matsukawa, Hiroyuki Ishiura, Shoji Tsuji, Ichiro Yabe

Journal of human genetics 66 ( 5 ) 535 - 537 2021.5

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

Adrenoleukodystrophy (ALD) is an X-linked disease that affects primarily the white matter of the central nervous system and adrenal cortex. A correlation between genotypes and phenotypes has not been observed. Here, we present two Japanese siblings with a novel missense variant (c.1887T > G) in the ABCD1 gene who presented with different clinical phenotypes, i.e., adolescent cerebral and cerebello-brainstem types. We also review the literature focusing on the variation in the clinical phenotypes within ALD families. In our review, 61.9% of sibling pairs presented with the same clinical type of ALD and 59.1% of sibling pairs presented with a similar age of onset. Conversely, 15.4% of sibling pairs had a similar age of onset, but different clinical types of ALD. To observe the correlation between genotypes and phenotypes, it is important to diagnose early and to accumulate reports describing age of onset, first onset symptom, and progression of the symptom.

DOI： 10.1038/s10038-020-00866-x

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Reliability and validity of Japanese version of Unified Multiple System Atrophy Rating Scale

Ayaka Chikada, Jun Mitsui, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda, Katsuhisa Ogata, Jun Goto, Gregor K. Wenning, Shoji Tsuji

Neurology and Clinical Neuroscience 9 ( 2 ) 171 - 180 2021.3

Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan. International journal

Takaki Taniguchi, Masahiro Ando, Yuji Okamoto, Akiko Yoshimura, Yujiro Higuchi, Akihiro Hashiguchi, Kensuke Shiga, Arisa Hayashida, Taku Hatano, Hiroyuki Ishiura, Jun Mitsui, Nobutaka Hattori, Toshiki Mizuno, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima

Clinical genetics 99 ( 3 ) 359 - 375 2021.3

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

We aimed to reveal the genetic features associated with MPZ variants in Japan. From April 2007 to August 2017, 64 patients with 23 reported MPZ variants and 21 patients with 17 novel MPZ variants were investigated retrospectively. Variation in MPZ variants and the pathogenicity of novel variants was examined according to the American College of Medical Genetics standards and guidelines. Age of onset, cranial nerve involvement, serum creatine kinase (CK), and cerebrospinal fluid (CSF) protein were also analyzed. We identified 64 CMT patients with reported MPZ variants. The common variants observed in Japan were different from those observed in other countries. We identified 11 novel pathogenic variants from 13 patients. Six novel MPZ variants in eight patients were classified as likely benign or uncertain significance. Cranial nerve involvement was confirmed in 20 patients. Of 30 patients in whom serum CK levels were evaluated, eight had elevated levels. Most of the patients had age of onset >20 years. In another subset of 30 patients, 18 had elevated CSF protein levels; four of these patients had spinal diseases and two had enlarged nerve root or cauda equina. Our results suggest genetic diversity across patients with MPZ variants.

DOI： 10.1111/cge.13881

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Voriconazoleによる治療により症状が改善した侵襲性アスペルギルス症による眼窩尖端症候群の1例

岩崎奏子, 横山敬士, 勝瀬一登, 角元利行, 岡本耕, 篠原孝幸, 鴨頭輝, 宮崎義継, 石浦浩之, 戸田達史

日本内科学会関東地方会 666回 42 - 42 2021.2

Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders. International journal

Wai Yan Yau, Jana Vandrovcova, Roisin Sullivan, Zhongbo Chen, Anna Zecchinelli, Roberto Cilia, Stefano Duga, Malgorzata Murray, Susana Carmona, Viorica Chelban, Hiroyuki Ishiura, Shoji Tsuji, Zane Jaunmuktane, Chris Turner, Nicholas W Wood, Henry Houlden

Movement disorders : official journal of the Movement Disorder Society 36 ( 1 ) 251 - 255 2021.1

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

BACKGROUND: The objective of this study was to determine the prevalence of the GGC-repeat expansion in NOTCH2NLC in whites presenting with movement disorders. METHODS: We searched for the GGC-repeat expansion in NOTCH2NLC using repeat-primed polymerase chain reaction in 203 patients with essential tremor, 825 patients with PD, 194 patients with spinocerebellar ataxia, 207 patients with "possible" or "probable" MSA, and 336 patients with pathologically confirmed MSA. We also screened 30,008 patients enrolled in the 100,000 Genomes Project for the same mutation using ExpansionHunter, followed by repeat-primed polymerase chain reaction. All possible expansions were confirmed by Southern blotting and/or long-read sequencing. RESULTS: We identified 1 patient who carried the NOTCH2NLC mutation in the essential tremor cohort, and 1 patient presenting with recurrent encephalopathy and postural tremor/parkinsonism in the 100,000 Genomes Project. CONCLUSIONS: GGC-repeat expansion in NOTCH2NLC is rare in whites presenting with movement disorders. In addition, existing whole-genome sequencing data are useful in case ascertainment. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

DOI： 10.1002/mds.28302

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Cranial Nerve Involvement and Dysautonomia in Post-COVID-19 Guillain-Barré Syndrome

Toshiyuki Kakumoto, Satoshi Kobayashi, Hayato Yuuki, Mitsuhiro Kainaga, Yuichiro Shirota, Masashi Hamada, Meiko Hashimoto Maeda, Akatsuki Kubota, Mizuho Kawai, Masaaki Saito, Hiroyuki Ishiura, Tatsushi Toda

Internal Medicine 60 ( 21 ) 3477 - 3480 2021

Chédiak–Higashi syndrome presenting as a hereditary spastic paraplegia

Kishin Koh, Mai Tsuchiya, Hiroyuki Ishiura, Haruo Shimazaki, Takeshi Nakamura, Hideo Hara, Kohei Suzuyama, Makio Takahashi, Shoji Tsuji, Yoshihisa Takiyama, Japan Spastic Paraplegia Research Consortium

Journal of Human Genetics 2021

Familial dementia with Lewy bodies with VPS13C mutations. International journal

Ryota Kobayashi, Hiroya Naruse, Shingo Koyama, Shinobu Kawakatsu, Hiroshi Hayashi, Hiroyuki Ishiura, Jun Mitsui, Yasuyuki Ohta, Tatsushi Toda, Shoji Tsuji, Koichi Otani

Parkinsonism & related disorders 81 31 - 33 2020.12

A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis. Reviewed International journal

Akihiko Mitsutake, Takashi Matsukawa, Kristine Joyce L Porto, Tatsuya Sato, Junko Katsumata, Tomonari Seki, Risa Maekawa, Takuto Hideyama, Masaki Tanaka, Hiroyuki Ishiura, Tatsushi Toda, Shoji Tsuji, Yasushi Shiio

Journal of the neurological sciences 418 117091 - 117091 2020.11

A novel multi‐exon deletion in the dysferlin gene of a limb‐girdle muscular dystrophy type 2B Filipino patient

Kristine Joyce L. Porto, Jun Mitsui, Hiroyuki Ishiura, Akatsuki Kubota, Kathleen Jaye L. Luspian, Emmanuel Eduardo, Ludwig Damian, Tatsushi Toda, Shoji Tsuji

Neurology and Clinical Neuroscience 8 ( 6 ) 419 - 421 2020.11

Novel variant of CSF1R in sporadic case with early‐onset cognitive impairment

Takashi Matsukawa, Hiroshi Shoji, Yasutaka Urasaki, Hiroyuki Ishiura, Jun Mitsui, Shuichi Oguri, Shoji Tsuji, Tatsushi Toda

Neurology and Clinical Neuroscience 8 ( 6 ) 430 - 432 2020.11

A Japanese family of primary familial brain calcification with paroxysmal kinesigenic dyskinesia(和訳中)

Mitsutake Akihiko, Matsukawa Takashi, Sato Tatsuya, Katsumata Junko, Seki Tomonari, Maekawa Risa, Hideyama Takuto, Tanaka Masaki, Ishiura Hiroyuki, Toda Tatsushi, Tsuji Shoji, Shiio Yasushi

臨床神経学 60 ( Suppl. ) S315 - S315 2020.11

Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance. International journal

Jun Hosoe, Fuyuki Miya, Hiroko Kadowaki, Toyofumi Fujiwara, Ken Suzuki, Takashi Kato, Hironori Waki, Takayoshi Sasako, Katsuya Aizu, Natsumi Yamamura, Fusako Sasaki, Makoto Kurano, Kazuo Hara, Masaki Tanaka, Hiroyuki Ishiura, Shoji Tsuji, Kenjiro Honda, Jun Yoshimura, Shinichi Morishita, Fumiko Matsuzawa, Sei-Ichi Aikawa, Keith A Boroevich, Masaomi Nangaku, Yukinori Okada, Tatsuhiko Tsunoda, Nobuhiro Shojima, Toshimasa Yamauchi, Takashi Kadowaki

Diabetes research and clinical practice 169 108461 - 108461 2020.11

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

AIMS: Monogenic diabetes is clinically heterogeneous and differs from common forms of diabetes (type 1 and 2). We aimed to investigate the clinical usefulness of a comprehensive genetic testing system, comprised of targeted next-generation sequencing (NGS) with phenotype-driven bioinformatics analysis in patients with monogenic diabetes, which uses patient genotypic and phenotypic data to prioritize potentially causal variants. METHODS: We performed targeted NGS of 383 genes associated with monogenic diabetes or common forms of diabetes in 13 Japanese patients with suspected (n = 10) or previously diagnosed (n = 3) monogenic diabetes or severe insulin resistance. We performed in silico structural analysis and phenotype-driven bioinformatics analysis of candidate variants from NGS data. RESULTS: Among the patients suspected having monogenic diabetes or insulin resistance, we diagnosed 3 patients as subtypes of monogenic diabetes due to disease-associated variants of INSR, LMNA, and HNF1B. Additionally, in 3 other patients, we detected rare variants with potential phenotypic effects. Notably, we identified a novel missense variant in TBC1D4 and an MC4R variant, which together may cause a mixed phenotype of severe insulin resistance. CONCLUSIONS: This comprehensive approach could assist in the early diagnosis of patients with monogenic diabetes and facilitate the provision of tailored therapy.

DOI： 10.1016/j.diabres.2020.108461

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Rapid Prototyping of Genomic Diagnostic Platform for Clinical Decision Support Reviewed

Takano R, Miyamoto S, Ishii M, Ishiura H, Tsuji S, Ohe K

An Official Journal of the Japan Association for Medical Informatics 40 ( 2 ) 83 - 95 2020.10

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Papers - Ishiura Hiroyuki