研究者詳細 - 小野寺　理

論文 - 小野寺　理

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遺伝性痙性対麻痺を呈しGTP cyclohydrolase 1ヘテロ接合性変異を認めた1剖検例

本郷祥子, 他田真理, 池田哲彦, 小澤哲夫, 劉李きん, 宮下哲典, 池内健, 小野寺理, 中島孝, 柿田明美

信州医学雑誌 71 ( 2 ) 128 - 129 2023年4月

遺伝性痙性対麻痺を呈しGTP cyclohydrolase 1ヘテロ接合性変異を認めた1剖検例

本郷祥子, 他田真理, 池田哲彦, 小澤哲夫, 劉李きん, 宮下哲典, 池内健, 小野寺理, 中島孝, 柿田明美

信州医学雑誌 71 ( 2 ) 128 - 129 2023年4月

初期にCastleman病が疑われ特徴的な神経伝導検査所見を呈した61歳男性例

畠山祐樹, 坪口晋太朗, 石黒敬信, 佐治越爾, 細島康宏, 片桐隆幸, 金澤雅人, 小野寺理

臨床神経学 63 ( 4 ) 240 - 240 2023年4月

Novel Partial Deletions, Frameshift and Missense Mutations of CSF1R in Patents with CSF1R-Related Leukoencephalopathy. 国際誌

Takanobu Ishiguro, Takuya Konno, Norikazu Hara, Bin Zhu, Satoshi Okada, Mamoru Shibata, Reiko Saika, Takaya Kitano, Megumi Toko, Tomohisa Nezu, Yuka Hama, Tomoya Kawazoe, Ikuko Takahashi-Iwata, Ichiro Yabe, Kota Sato, Hayato Takeda, Shintaro Toda, Jin Nishimiya, Toshiyuki Teduka, Hiroaki Nozaki, Kensaku Kasuga, Akinori Miyashita, Osamu Onodera, Takeshi Ikeuchi

European journal of neurology 30 ( 7 ) 1861 - 1870 2023年3月

記述言語：英語掲載種別：研究論文（学術雑誌）

BACKGROUND: CSF1R-related leukoencephalopathy is an adult-onset leukoencephalopathy caused by mutations in CSF1R. The present study aimed to explore the broader genetic spectrum of CSF1R-related leukoencephalopathy in association with clinical and imaging features. METHODS: Mutational analysis of CSF1R was performed for 100 consecutive patients with adult-onset leukoencephalopathy. Sequence and copy number variation (CNV) analyses of CSF1R were performed. The genomic ranges of the deletions were determined by long-read sequencing. Ligand-dependent autophosphorylation of CSF1R was examined in cells expressing the CSF1R mutants identified in this study. RESULTS: We identified CSF1R mutations in 15 patients, accounting for 15% of the adult-onset leukoencephalopathy cases. Seven novel and five previously reported CSF1R mutations were identified. The novel mutations, including three missense and one in-frame 3-bp deletion, were located in the tyrosine kinase domain (TKD) of CSF1R. Functional assays revealed that none of the novel mutations in the TKD showed autophosphorylation of CSF1R. We identified two partial deletions of CSF1R that resulted in the lack of the C-terminal region, including the distal TKD, in two patients. Variable clinical features including cognitive impairment, psychiatric symptoms, and gait disturbance were observed. Various degrees of the white matter lesions and corpus callosum abnormalities on MRI and characteristic calcifications on CT were observed as imaging features. CONCLUSIONS: Our results highlighted the importance of examining the CNV of CSF1R even when Sanger or exome sequencing reveal no CSF1R mutations. Genetic examination of sequences and CNV analyses of CSF1R are recommended for an accurate diagnosis of CSF1R-related leukoencephalopathy.

DOI： 10.1111/ene.15796

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脳血管造影検査後の発熱・意識障害で診断された神経核内封入体病(NIID)の一例

小出伸, 坪口晋太朗, 二宮格, 齋藤太希, 石黒敬信, 佐治越爾, 鈴木倫明, 金澤雅人, 小野寺理

臨床神経学 63 ( 3 ) 180 - 180 2023年3月

【ALS-どこまでわかり,どこまで治るか】原因と発症機序 TDP-43

小出眞悟, 須貝章弘, 小野寺理

Clinical Neuroscience 41 ( 3 ) 338 - 341 2023年3月

Cataract Surgery and Chronic Kidney Disease: A Hospital-based Prospective Cohort Study

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

Internal Medicine 2023年

Implications of miRNAs dysregulation in amyotrophic lateral sclerosis: Challenging for clinical applications. 国際誌

Yuka Koike, Osamu Onodera

Frontiers in neuroscience 17 1131758 - 1131758 2023年

記述言語：英語掲載種別：研究論文（学術雑誌）

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the selective degeneration of upper and lower motor neurons. Currently, there are no effective biomarkers and fundamental therapies for this disease. Dysregulation in RNA metabolism plays a critical role in the pathogenesis of ALS. With the contribution of Next Generation Sequencing, the functions of non-coding RNAs (ncRNAs) have gained increasing interests. Especially, micro RNAs (miRNAs), which are tissue-specific small ncRNAs of about 18-25 nucleotides, have emerged as key regulators of gene expression to target multiple molecules and pathways in the central nervous system (CNS). Despite intensive recent research in this field, the crucial links between ALS pathogenesis and miRNAs remain unclear. Many studies have revealed that ALS-related RNA binding proteins (RBPs), such as TAR DNA-binding protein 43 (TDP-43) and fused in sarcoma/translocated in liposarcoma (FUS), regulate miRNAs processing in both the nucleus and cytoplasm. Of interest, Cu2+/Zn2+ superoxide dismutase (SOD1), a non-RBP associated with familial ALS, shows partially similar properties to these RBPs via the dysregulation of miRNAs in the cellular pathway related to ALS. The identification and validation of miRNAs are important to understand the physiological gene regulation in the CNS, and the pathological implications in ALS, leading to a new avenue for early diagnosis and gene therapies. Here, we offer a recent overview regarding the mechanism underlying the functions of multiple miRNAs across TDP-43, FUS, and SOD1 with the context of cell biology, and challenging for clinical applications in ALS.

DOI： 10.3389/fnins.2023.1131758

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Regeneration of the cerebral cortex by direct chemical reprogramming of macrophages into neuronal cells in acute ischemic stroke. 国際誌

Itaru Ninomiya, Akihide Koyama, Yutaka Otsu, Osamu Onodera, Masato Kanazawa

Frontiers in cellular neuroscience 17 1225504 - 1225504 2023年

記述言語：英語掲載種別：研究論文（学術雑誌）

Theoretically, direct chemical reprogramming of somatic cells into neurons in the infarct area represents a promising regenerative therapy for ischemic stroke. Previous studies have reported that human fibroblasts and astrocytes transdifferentiate into neuronal cells in the presence of small molecules without introducing ectopic transgenes. However, the optimal combination of small molecules for the transdifferentiation of macrophages into neurons has not yet been determined. The authors hypothesized that a combination of small molecules could induce the transdifferentiation of monocyte-derived macrophages into neurons and that the administration of this combination may be a regenerative therapy for ischemic stroke because monocytes and macrophages are directly involved in the ischemic area. Transcriptomes and morphologies of the cells were compared before and after stimulation using RNA sequencing and immunofluorescence staining. Microscopic analyses were also performed to identify cell markers and evaluate functional recovery by blinded examination following the administration of small molecules after ischemic stroke in CB-17 mice. In this study, an essential combination of six small molecules [CHIR99021, Dorsomorphin, Forskolin, isoxazole-9 (ISX-9), Y27632, and DB2313] that transdifferentiated monocyte-derived macrophages into neurons in vitro was identified. Moreover, administration of six small molecules after cerebral ischemia in model animals generated a new neuronal layer in the infarct cortex by converting macrophages into neuronal cells, ultimately improving neurological function. These results suggest that altering the transdifferentiation of monocyte-derived macrophages by the small molecules to adjust their adaptive response will facilitate the development of regenerative therapies for ischemic stroke.

DOI： 10.3389/fncel.2023.1225504

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SYNE1-ataxia: clinicopathologic features of an autopsied patient with novel compound heterozygous mutations

Rie Saito, Norikazu Hara, Mari Tada, Masatoshi Wakabayashi, Akinori Miyashita, Masatoyo Nishizawa, Osamu Onodera, Takeshi Ikeuchi, Akiyoshi Kakita

Journal of Neuropathology & Experimental Neurology 2022年12月

Deep learning classification of urinary sediment crystals with optimal parameter tuning. 国際誌

Takahiro Nagai, Osamu Onodera, Shujiro Okuda

Scientific reports 12 ( 1 ) 21178 - 21178 2022年12月

記述言語：英語掲載種別：研究論文（学術雑誌）

The examination of urinary sediment crystals, the sedimentary components of urine, is useful in screening tests, and is always performed in medical examinations. The examination of urinary sediment crystals is typically done by classifying them under a microscope. Although automated analyzers are commercially available, manual classification is required, which is time-consuming and varies depending on the technologist performing the test and the laboratory. A set of test images was created, consisting of training, validation, and test images. The training images were transformed and augmented using various methods. The test images were classified to determine the patterns that could be correctly classified. Convolutional neural networks were used for training. Furthermore, we also considered the case where the crystal subcategories were not treated as separate. Learning with all parameters except the random cropping parameter showed the highest accuracy value. Treating the subcategories together or separately did not seem to affect the accuracy value. The accuracy of the best pattern was 0.918. When matched to a real-world case, the percentage of correct answers was 88%. Although the number of images was limited, good results were obtained in the classification of crystal images with optimal parameter tuning. The parameter optimization performed in this study can be used as a reference for future studies, with the goal of image classification by deep learning in clinical practice.

DOI： 10.1038/s41598-022-25385-x

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High frequency ofHTRA1ANDABCC6mutations in Japanese patients with adult-onset cerebral small vessel disease

Masahiro Uemura, Yuya Hatano, Hiroaki Nozaki, Shoichiro Ando, Hajime Kondo, Akira Hanazono, Akira Iwanaga, Hiroyuki Murota, Yosuke Osakada, Masato Osaki, Masato Kanazawa, Mitsuyasu Kanai, Yoko Shibata, Reiko Saika, Tadashi Miyatake, Hitoshi Aizawa, Takeshi Ikeuchi, Hidekazu Tomimoto, Ikuko Mizuta, Toshiki Mizuno, Tomohiko Ishihara, Osamu Onodera

Journal of Neurology, Neurosurgery & Psychiatry jnnp - 2022 2022年10月

掲載種別：研究論文（学術雑誌）出版者・発行元：BMJ

Background

This study aimed to clarify the frequency and clinical features of monogenic cerebral small vessel disease (mgCSVD) among patients with adult-onset severe CSVD in Japan.

Methods

This study included patients with adult-onset severe CSVD with an age of onset ≤55 years (group 1) or >55 years and with a positive family history (group 2). After conducting conventional genetic tests forNOTCH3andHTRA1, whole-exome sequencing was performed on undiagnosed patients. Patients were divided into two groups according to the results of the genetic tests: monogenic and undetermined. The clinical and imaging features were compared between the two groups.

Results

Group 1 and group 2 included 75 and 31 patients, respectively. In total, 30 patients hadNOTCH3mutations, 11 patients hadHTRA1mutations, 6 patients hadABCC6mutations, 1 patient had aTREX1mutation, 1 patient had aCOL4A1mutation and 1 patient had aCOL4A2mutation. The total frequency of mutations inNOTCH3,HTRA1andABCC6was 94.0% in patients with mgCSVD. In group 1, the frequency of a family history of first relatives, hypertension and multiple lacunar infarctions (LIs) differed significantly between the two groups (monogenic vs undetermined; family history of first relatives, 61.0% vs 25.0%, p=0.0015; hypertension, 34.1% vs 63.9%, p=0.0092; multiple LIs, 87.8% vs 63.9%, p=0.0134).

Conclusions

More than 90% of mgCSVDs were diagnosed by screening forNOTCH3,HTRA1andABCC6. The target sequences for these three genes may efficiently diagnose mgCSVD in Japanese patients.

DOI： 10.1136/jnnp-2022-329917

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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 COX10 Mutations and PMP22 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

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