研究者詳細 - 小野寺　理

論文 - 小野寺　理

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Patients with heterozygous HTRA1-related cerebral small vessel disease misdiagnosed with other diseases: Two case reports 査読

Sho Kitahara, Shintaro Tsuboguchi, Masahiro Uemura, Hiroaki Nozaki, Masato Kanazawa, Osamu Onodera

Clinical Neurology and Neurosurgery 2022年10月

脳梗塞に対する低酸素低糖刺激末梢血単核球投与による脳内変化

金山武史, 畠山公大, 大津裕, 秋山夏葵, 二宮格, 小野寺理, 下畑享良, 金澤雅人

脳循環代謝 34 ( 1 ) 154 - 154 2022年10月

Biallelic <i>COX10</i> Mutations and <i>PMP22</i> Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy

Yasuko Kuroha, Takanobu Ishiguro, Mari Tada, Norikazu Hara, Kei Murayama, Izumi Kawachi, Kensaku Kasuga, Akinori Miyashita, Arika Hasegawa, Tetsuya Takahashi, Nae Matsubara, Osamu Onodera, Akiyoshi Kakita, Ryoko Koike, Takeshi Ikeuchi

Neurology Genetics 8 ( 5 ) e200030 - e200030 2022年10月

掲載種別：研究論文（学術雑誌）出版者・発行元：Ovid Technologies (Wolters Kluwer Health)

Objectives

Leigh syndrome is a progressive encephalopathy characterized by symmetrical lesions in brain. This study aimed to investigate the clinicopathologic and genetic characteristics of a family with Leigh syndrome and hereditary neuropathy with liability to pressure palsy (HNPP).

Methods

Data from a Japanese family's clinical features, MRIs, muscle biopsy, and an autopsy were analyzed. A whole-exome sequence was performed, as well as real-time PCR analysis to determine copy number variations and Western blot analyses.

Results

The proband and her 2 siblings developed spastic paraplegia and mental retardation during childhood. The proband and her sister had peripheral neuropathy, whereas their father developed compression neuropathy. Leigh encephalopathy was diagnosed neuropathologically. Brain MRI revealed changes in cerebral white matter as well as multiple lesions in the brainstem and cerebellum. Muscle biopsy revealed type 2 fiber uniformity and decreased staining of cytochrome c oxidase. The COX10 missense mutation was identified through whole-exome sequence. A 1.4-Mb genomic deletion extending from intron 5 of COX10 to PMP22 was detected.

Discussion

These findings suggest that in this family, Leigh syndrome is associated with a mitochondrial respiratory chain complex IV deficiency caused by biallelic COX10 mutations coexisting with HNPP caused by heterozygous PMP22 deletion.

DOI： 10.1212/nxg.0000000000200030

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Dysarthria-facial paresis syndrome due to long insular artery infarction

Ryutaro Hanyu, Shintaro Tsuboguchi, Itaru Ninomiya, Takanobu Ishiguro, Takuya Konno, Masato Kanazawa, Osamu Onodera

Journal of the Neurological Sciences 120456 - 120456 2022年10月

The CAG repeat length of CACNA1A in both alleles affects the age of onset of SCA6(タイトル和訳中)

Hatano Yuya, Ishihara Tomohiko, Hirokawa Sachiko, Onodera Osamu

臨床神経学 62 ( Suppl. ) S364 - S364 2022年10月

神経症状で初発する血管内大細胞型B細胞リンパ腫の臨床的特徴と診断方法に関する検討

北原匠, 金澤雅人, 徳武孝充, 棗田学, 佐藤晶, 石川正典, 原賢寿, 田部浩行, 牧野邦比古, 藤田信也, 岡本浩一郎, 柿田明美, 藤井幸彦, 小野寺理

臨床神経学 62 ( Suppl. ) S272 - S272 2022年10月

パーキンソン症候群の治療法開発の最前線 PSPの新規治療法開発どのように臨床試験を成功させるか

金澤雅人, 春日健作, 島田斉, 池内健, 小野寺理

神経治療学 39 ( 6 ) S118 - S118 2022年10月

日本人小脳失調症患者におけるRFC1のACAGG反復モチーフの拡大(Expansion of the ACAGG repeat motif in RFC1 in Japanese patients with cerebellar ataxia)

Koide Shingo, Ishihara Tomohiko, Hirokawa Sachiko, Sakakibara Satoko, Aiba Ikuko, Onodera Osamu

臨床神経学 62 ( Suppl. ) S364 - S364 2022年10月

Importance of the Q/N-rich segment for protein stability of endogenous mouse TDP-43. 国際誌

Toshiya Sato, Kanako Oda, Seiko Sakai, Rika Kato, Saori Yamamori, Makoto Itakura, Yoshio Kodera, Masatoyo Nishizawa, Toshikuni Sasaoka, Osamu Onodera, Minesuke Yokoyama

Scientific reports 12 ( 1 ) 14923 - 14923 2022年9月

記述言語：英語掲載種別：研究論文（学術雑誌）

TAR DNA-binding protein 43 kDa (TDP-43), a nuclear protein, plays an important role in the molecular pathogenesis of amyotrophic lateral sclerosis (ALS). The long-disordered C-terminal region (CTR) of TDP-43 is known to be aggregation-prone and a hotspot for ALS mutations, so elucidation of the physiological function of CTR will provide insights into the pathogenesis of ALS. The CTR has two Gly, aromatic, and Ser-rich (GaroS) segments and an amyloidogenic core divided into a hydrophobic patch (HP) and a Gln/Asn (Q/N)-rich segment. Although TDP-43 lacking the CTR is known to be unstable, as observed in knock-in mice, it is unclear which of these segments contributes to the stability of TDP-43. Here, we generated 12 mouse lines lacking the various sub-regions of CTR by genome editing and compared the embryonic lethality of homozygotes, and protein and mRNA expression levels of TDP-43. We demonstrated the functional diversity of the four segments of CTR, finding that the presence of the Q/N-rich segment greatly restored the protein stability of TDP-43. In addition, we found that the second GaroS deletion did not affect protein stability and mouse development.

DOI： 10.1038/s41598-022-19153-0

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失語症を来した小脳出血の1例

畠山公大, 大槻美佳, 木下悠紀子, 小出伸, 畠山祐樹, 佐治越爾, 金澤雅人, 小野寺理

日本神経心理学会総会プログラム・予稿集 46回 69 - 69 2022年8月

Clinical correlations of cerebrospinal fluid biomarkers including neuron-glia 2 and neurofilament light chain in patients with multiple system atrophy. 国際誌

Takayoshi Tokutake, Kensaku Kasuga, Tamao Tsukie, Takanobu Ishiguro, Takayoshi Shimohata, Osamu Onodera, Takeshi Ikeuchi

Parkinsonism & related disorders 102 30 - 35 2022年7月

記述言語：英語掲載種別：研究論文（学術雑誌）

BACKGROUND: Multiple system atrophy (MSA) is a progressive neurodegenerative disorder. The usefulness of biomarkers in diagnosing MSA has been recently reported, but few studies have investigated the correlations among cerebrospinal fluid (CSF) biomarkers or the relationship between CSF biomarkers and the clinical parameters of patients with MSA. Thus, this was the aim of our study. METHODS: We performed cross-sectional study of CSF biomarkers in 50 patients with MSA and 20 control subjects. Ten of the patients with MSA were longitudinally followed for a period of 2 ± 1 years (mean ± standard deviation) as a substudy. We quantified CSF biomarkers including α-synuclein (α-syn), β-amyloid42 (Aβ42), total tau (t-tau) and phosphorylated tau (p-tau), neurofilament light chain (NfL), and neuron-glia2 (NG2), and assessed their relationship with clinical parameters (clinical subtypes, motor symptoms, nonmotor symptoms, and disease progression). RESULTS: The levels of CSF α-syn, Aβ42, and p-tau were significantly lower, while those of NfL were higher in the patients with MSA than in the control subjects. Importantly, we found the significant elevation of soluble NG2 in the CSF of patients with MSA. CSF NfL showed the optimal diagnostic performance for MSA with levels at baseline significantly associated with longitudinal motor progression. With the exception of t-tau, there were no differences in the levels of CSF biomarkers between the MSA-parkinsonism and MSA-cerebellar subtypes. CONCLUSIONS: Our results suggest CSF levels of NG2 and NfL as possible diagnostic and prognostic biomarkers in MSA. Further study is necessary to validate these findings.

DOI： 10.1016/j.parkreldis.2022.07.007

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Stroke incidence and chronic kidney disease: A hospital-based prospective cohort study. 国際誌

Minako Wakasugi, Akio Yokoseki, Masakazu Wada, Kazuhiro Sanpei, Takeshi Momotsu, Kenji Sato, Hiroyuki Kawashima, Kazutoshi Nakamura, Osamu Onodera, Ichiei Narita

Nephrology (Carlton, Vic.) 27 ( 7 ) 577 - 587 2022年7月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：WILEY

AIM: This prospective cohort study aimed to (i) examine stroke incidence and stroke subtypes by chronic kidney disease (CKD) stage, (ii) examine whether CKD patients with or without proteinuria have a high risk of stroke independent of traditional cardiovascular risk factors, and (iii) determine precise estimates of stroke risk by CKD stage while accounting for competing mortality risk. METHODS: Participants were 2023 patients enrolled in the Project in Sado for Total Health between June 2008 and December 2016 (55% men; mean age, 69 years), of whom 52% had CKD (stage 1-2, 10%; G3a, 48%; G3b, 17%; G4-5, 11% and G5D, 14%). RESULTS: During a median follow-up of 5.7 years, 157 participants developed stroke and 448 died without developing stroke. Most stroke cases were ischaemic among non-dialysis-dependent CKD participants, but the relative frequency of ischaemic stroke was near that of intracerebral haemorrhage among dialysis-dependent CKD participants. After adjustment, stage 1-2 (hazard ratio [HR], 2.97; 95% confidence interval [CI], 1.60-5.51) and stage G3-5 participants with proteinuria (HR, 2.50; 95% CI, 1.56-4.02), but not stage G3-5 participants without proteinuria (HR, 0.64; 95% CI, 0.38-1.08), had a higher stroke risk compared to non-CKD participants. In competing risk analyses, the association was attenuated but remained significant. CONCLUSION: Although the distribution of stroke subtypes differed, CKD participants with proteinuria and those with CKD stage 5D had a 2- and 4-times higher risk of stroke, respectively, than that of non-CKD participants, after accounting for competing mortality risk and traditional risk factors.

DOI： 10.1111/nep.14049

Web of Science

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Improving the Accuracy of Diagnosis for Multiple-System Atrophy Using Deep Learning-Based Method 査読国際誌

Yasuhiro Kanatani, Yoko Sato, Shota Nemoto, Manabu Ichikawa, Osamu Onodera

Biology 11 ( 7 ) 951 - 951 2022年6月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：{MDPI} {AG}

Multiple-system atrophy (MSA) is primarily an autonomic disorder with parkinsonism or cerebellar ataxia. Clinical diagnosis of MSA at an early stage is challenging because the symptoms change over the course of the disease. Recently, various artificial intelligence-based programs have been developed to improve the diagnostic accuracy of neurodegenerative diseases, but most are limited to the evaluation of diagnostic imaging. In this study, we examined the validity of diagnosis of MSA using a pointwise linear model (deep learning-based method). The goal of the study was to identify features associated with disease differentiation that were found to be important in deep learning. A total of 3377 registered MSA cases from FY2004 to FY2008 were used to train the model. The diagnostic probabilities of SND (striatonigral degeneration), SDS (Shy-Drager syndrome), and OPCA (olivopontocerebellar atrophy) were estimated to be 0.852 ± 0.107, 0.650 ± 0.235, and 0.858 ± 0.270, respectively. In the pointwise linear model used to identify and visualize features involved in individual subtypes, autonomic dysfunction was found to be a more prominent component of SDS compared to SND and OPCA. Similarly, respiratory failure was identified as a characteristic of SDS, dysphagia was identified as a characteristic of SND, and brain-stem atrophy was identified as a characteristic of OPCA.

DOI： 10.3390/biology11070951

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Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial. 国際誌

Ryosuke Oki, Yuishin Izumi, Koji Fujita, Ryosuke Miyamoto, Hiroyuki Nodera, Yasutaka Sato, Satoshi Sakaguchi, Hiroshi Nokihara, Kazuaki Kanai, Taiji Tsunemi, Nobutaka Hattori, Yuki Hatanaka, Masahiro Sonoo, Naoki Atsuta, Gen Sobue, Toshio Shimizu, Kazumoto Shibuya, Ken Ikeda, Osamu Kano, Kazuto Nishinaka, Yasuhiro Kojima, Masaya Oda, Kiyonobu Komai, Hitoshi Kikuchi, Nobuo Kohara, Makoto Urushitani, Yoshiaki Nakayama, Hidefumi Ito, Makiko Nagai, Kazutoshi Nishiyama, Daisuke Kuzume, Shun Shimohama, Takayoshi Shimohata, Koji Abe, Tomohiko Ishihara, Osamu Onodera, Sagiri Isose, Nobuyuki Araki, Mitsuya Morita, Kazuyuki Noda, Tatsushi Toda, Hirofumi Maruyama, Hirokazu Furuya, Satoshi Teramukai, Tatsuo Kagimura, Kensuke Noma, Hiroaki Yanagawa, Satoshi Kuwabara, Ryuji Kaji

JAMA neurology 79 ( 6 ) 575 - 583 2022年6月

記述言語：英語掲載種別：研究論文（学術雑誌）

Importance: The effectiveness of currently approved drugs for amyotrophic lateral sclerosis (ALS) is restricted; there is a need to develop further treatments. Initial studies have shown ultrahigh-dose methylcobalamin to be a promising agent. Objective: To validate the efficacy and safety of ultrahigh-dose methylcobalamin for patients with ALS enrolled within 1 year of onset. Design, Setting, and Participants: This was a multicenter, placebo-controlled, double-blind, randomized phase 3 clinical trial with a 12-week observation and 16-week randomized period, conducted from October 17, 2017, to September 30, 2019. Patients were recruited from 25 neurology centers in Japan; those with ALS diagnosed within 1 year of onset by the updated Awaji criteria were initially enrolled. Of those, patients fulfilling the following criteria after 12-week observation were eligible for randomization: 1- or 2-point decrease in the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) total score, a percent forced vital capacity greater than 60%, no history of noninvasive respiratory support and tracheostomy, and being ambulatory. The target participant number was 64 in both the methylcobalamin and placebo groups. Patients were randomly assigned through an electronic web-response system to methylcobalamin or placebo. Interventions: Intramuscular injection of methylcobalamin (50-mg dose) or placebo twice weekly for 16 weeks. Main Outcomes and Measures: The primary end point was change in ALSFRS-R total score from baseline to week 16 in the full analysis set. Results: A total of 130 patients (mean [SD] age, 61.0 [11.7] years; 74 men [56.9%]) were randomly assigned to methylcobalamin or placebo (65 each). A total of 129 patients were eligible for the full analysis set, and 126 completed the double-blind stage. Of these, 124 patients proceeded to the open-label extended period. The least square means difference in ALSFRS-R total score at week 16 of the randomized period was 1.97 points greater with methylcobalamin than placebo (-2.66 vs -4.63; 95% CI, 0.44-3.50; P = .01). The incidence of adverse events was similar between the 2 groups. Conclusions and Relevance: Results of this randomized clinical trial showed that ultrahigh-dose methylcobalamin was efficacious in slowing functional decline in patients with early-stage ALS and with moderate progression rate and was safe to use during the 16-week treatment period. Trial Registration: ClinicalTrials.gov Identifier: NCT03548311.

DOI： 10.1001/jamaneurol.2022.0901

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全身性疾患に伴う脊椎病変頸椎除圧術後の上肢型筋萎縮側索硬化症の臨床経過

五十嵐哲也, 渡辺慶, 大橋正幸, 川島寛之, 三瓶一弘, 五十嵐修一, 黒羽泰子, 小池亮子, 石原智彦, 大津裕, 小野寺理

東北整形災害外科学会雑誌 65 ( 1 ) 167 - 168 2022年6月

Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective. 国際誌

Thomas Klockgether, Tetsuo Ashizawa, Bernard Brais, Rosalind Chuang, Alexandra Durr, Brent Fogel, Julie Greenfield, Sue Hagen, Laura Bannach Jardim, Hong Jiang, Osamu Onodera, José Luiz Pedroso, Bin-Weng Soong, David Szmulewicz, Holm Graessner, Matthis Synofzik

Movement disorders : official journal of the Movement Disorder Society 37 ( 6 ) 1125 - 1130 2022年6月

臨床医のための神経病理再入門 CARASIL

齋藤理恵, 小野寺理, 柿田明美

Clinical Neuroscience 40 ( 6 ) 700 - 702 2022年6月

脳神経疾患克服に向けた研究推進の提言2020、各論(疾患群別)

望月秀樹, 青木正志, 池中建介, 井上治久, 岩坪威, 宇川義一, 岡澤均, 小野賢二郎, 小野寺理, 北川一夫, 齊藤祐子, 下畑享良, 高橋良輔, 戸田達史, 中原仁, 松本理器, 水澤英洋, 三井純, 村山繁雄, 勝野雅央, 日本神経学会将来構想委員会

臨床神経学 62 ( 6 ) 443 - 457 2022年6月

記述言語：日本語出版者・発行元：(一社)日本神経学会

日本神経学会では,脳神経内科領域の研究・教育・診療,特に研究の方向性や学会としてのあるべき姿について審議し,水澤代表理事が中心となり国などに対して提言を行うために作成委員*が選ばれ,2013年に「脳神経疾患克服に向けた研究推進の提言」が作成された.2014年に将来構想委員会が設立され,これらの事業が継続.今回将来構想委員会で,2020年から2021年の最新の提言が作成された.この各論IIでは,疾患ごとに脳神経内科領域を分類し,各分野の専門家がわかりやすく解説するとともに,最近のトピックスについて冒頭に取り上げた.(著者抄録)

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その他リンク： https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2022&ichushi_jid=J01550&link_issn=&doc_id=20220609450002&doc_link_id=10.5692%2Fclinicalneurol.cn-001696&url=https%3A%2F%2Fdoi.org%2F10.5692%2Fclinicalneurol.cn-001696&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_3.gif

脳神経疾患克服に向けた研究推進の提言2020、各論(方法論別)

臨床神経学 62 ( 6 ) 429 - 442 2022年6月

記述言語：日本語出版者・発行元：(一社)日本神経学会

日本神経学会では,脳神経内科領域の研究・教育・診療,特に研究の方向性や学会としてのあるべき姿について審議し,水澤代表理事が中心となり国などに対して提言を行うために作成委員*が選ばれ,2013年に「脳神経疾患克服に向けた研究推進の提言」が作成された.2014年に将来構想委員会が設立され,これらの事業が継続.今回将来構想委員会で,2020年から2021年の最新の提言が作成された.この各論Iでは,遺伝子研究,トランスレーショナルリサーチ,核酸医薬,iPS研究,介護・福祉など,多様性を増す脳神経内科領域の臨床と研究について,最新トピックスを交えて取り上げる.(著者抄録)

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その他リンク： https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2022&ichushi_jid=J01550&link_issn=&doc_id=20220609450001&doc_link_id=10.5692%2Fclinicalneurol.cn-001695&url=https%3A%2F%2Fdoi.org%2F10.5692%2Fclinicalneurol.cn-001695&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_3.gif

Mortality factors in recurrent parathyroid cancer: a pooled analysis reply

Minako Wakasugi, Akio Yokoseki, Masakazu Wada, Takeshi Momotsu, Kenji Sato, Hiroyuki Kawashima, Kazutoshi Nakamura, Osamu Onodera, Ichiei Narita

JOURNAL OF BONE AND MINERAL METABOLISM 40 ( 3 ) 537 - 538 2022年5月

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