Updated on 2026/05/15

写真a

 
Takei Jun
 
Organization
University Hospital, Medical and Dental Sciences Area University Hospital Clinical Center Neurology Disease Center Assistant Professor
Title
Assistant Professor
External link
 

Papers

  • Takei J., Higuchi Y., Ando M., Yoshimura A., Yuan J.H., Fujisaki N., Tokashiki T., Kanzato N., Jonosono M., Sueyoshi T., Kanda N., Matsuoka H., Okubo R., Suehara M., Matsuura E., Takashima H. .  Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation .  Frontiers in Neurology14   1241678   2023Reviewed International journal

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    Authorship：Lead author   Language：English   Publishing type：Doctoral thesis   Publisher：Frontiers in Neurology  

    Background and objective: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral microvascular disease characterized by the development of vascular dementia and lacunar infarctions. This study aimed to identify the genetic and clinical features of CADASIL in Japan. Methods: We conducted genetic analysis on a case series of patients clinically diagnosed with CADASIL. Clinical and imaging analyses were performed on 32 patients with pathogenic mutations in the NOTCH3 gene. To assess the presence of cerebral microbleeds (CMBs), we utilized several established rating scales including the Fazekas scale, Scheltens rating scale, and Microbleed Anatomical Rating Scale, based on brain MRI images. Results: Among the 32 CADASIL patients, 24 cases were found carrying the R75P mutation in NOTCH3, whereas the remaining eight cases had other NOTCH3 mutations (R75Q, R110C, C134F, C144F, R169C, and R607C). The haplotype analysis of the R75P mutation uncovered the presence of a founder effect. A brain MRI analysis revealed that cases with the R75P mutation had a significantly higher total number of CMBs, particularly in the thalamus when compared to patients with other NOTCH3 mutations. Among 15 out of 24 cases with the R75P mutation, we observed a notable clustering of CMBs in the thalamus, termed microbleed clustering in thalamus sign (MCT sign). Conclusion: We propose that the MCT sign observed in NOTCH3 R75P-related CADASIL patients may serve as a potentially characteristic imaging feature. This finding offers further insights into the interactions between genotypes and phenotypes between NOTCH3 and CADASIL.

    DOI： 10.3389/fneur.2023.1241678

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  • Sakiyama Y., Yuan J.H., Yoshimura A., Takeuchi M., Maki Y., Mori T., Takei J., Ando M., Hiramatsu Y., Nozuma S., Higuchi Y., Yonezawa H., Kirishima M., Suzuki M., Kano T., Tarisawa M., Hashiguchi S., Kunii M., Sato S., Takahashi-Iwata I., Hashiguchi A., Matsuura E., Izumo S., Tanimoto A., Takashima H. .  Brain biopsy and metagenomic sequencing enhance aetiological diagnosis of encephalitis .  Brain Communications7 ( 3 ) fcaf165   2025Reviewed International journal

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Brain Communications  

    Identifying the aetiology of CNS diseases, regardless of their infectious or non-infectious nature, is often intricate. Next-generation sequencing (NGS) has emerged as a powerful tool for sensitive and unbiased screening of tissue or body fluid specimens. This study aimed to investigate the underlying aetiology of patients with suspected infectious CNS diseases. Between April 2013 and October 2021, we collected brain tissue samples from 33 patients diagnosed with encephalitis or encephalitis-like CNS diseases, obtained via biopsy or autopsy, and underwent metagenomic NGS (mNGS) in conjunction with pathological evaluations. Moreover, we employed PCR-based assays and pathogen-specific immunostaining to corroborate the presence of pathogens within the tissue samples. Among the 33 patients, mNGS elucidated pathogen-specific genomic sequences in 7 cases (21.2%), including halobacteria (archaea), Balamuthia mandrillaris, Epstein-Barr virus, Toxoplasma gondii and herpes simplex virus. Additionally, brain tissue mNGS ruled out known pathogens, identifying 14 cases (42.4%) of non-infectious CNS diseases, which included neoplastic, autoimmune/inflammatory and amyloid angiopathy conditions. The adjustment of therapeutic strategies based on these findings led to improvements in clinical symptoms, imaging outcomes and patient prognosis. Brain biopsy serves as both a direct pathological research target and a valuable source of samples for unbiased high-throughput sequencing. Our study illustrates the reliability of mNGS on brain tissue, which significantly improves the diagnostic rate for suspected encephalitis or encephalitis-like diseases of unknown aetiology. These findings underscore the importance of mNGS in guiding more precise and effective therapeutic interventions for patients in clinical practice.

    DOI： 10.1093/braincomms/fcaf165

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  • Hobara T., Ando M., Higuchi Y., Yuan J.H., Yoshimura A., Kojima F., Noguchi Y., Takei J., Hiramatsu Y., Nozuma S., Nakamura T., Adachi T., Toyooka K., Yamashita T., Sakiyama Y., Hashiguchi A., Matsuura E., Okamoto Y., Takashima H. .  Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy .  Journal of Neurology Neurosurgery and Psychiatry96 ( 2 ) 140 - 149   2024.7Reviewed International journal

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Journal of Neurology Neurosurgery and Psychiatry  

    Background The causative genes for over 60% of inherited peripheral neuropathy (IPN) remain unidentified. This study endeavours to enhance the genetic diagnostic rate in IPN cases by conducting screenings focused on non-coding repeat expansions. Methods We gathered data from 2424 unrelated Japanese patients diagnosed with IPN, among whom 1555 cases with unidentified genetic causes, as determined through comprehensive prescreening analyses, were selected for the study. Screening for CGG non-coding repeat expansions in LRP12, GIPC1 and RILPL1 genes was conducted using PCR and long-read sequencing technologies. Results We identified CGG repeat expansions in LRP12 from 44 cases, establishing it as the fourth most common aetiology in Japanese IPN. Most cases (29/37) exhibited distal limb weakness, without ptosis, ophthalmoplegia, facial muscle weakness or bulbar palsy. Neurogenic changes were frequently observed in both needle electromyography (97%) and skeletal muscle tissue (100%). In nerve conduction studies, 28 cases primarily showed impairment in motor nerves without concurrent involvement of sensory nerves, consistent with the phenotype of hereditary motor neuropathy. In seven cases, both motor and sensory nerves were affected, resembling the Charcot-Marie-Tooth (CMT) phenotype. Importantly, the mean CGG repeat number detected in the present patients was significantly shorter than that of patients with LRP12-oculopharyngodistal myopathy (p<0.0001). Additionally, GIPC1 and RILPL1 repeat expansions were absent in our IPN cases. Conclusion We initially elucidate LRP12 repeat expansions as a prevalent cause of CMT, highlighting the necessity for an adapted screening strategy in clinical practice, particularly when addressing patients with IPN.

    DOI： 10.1136/jnnp-2024-333403

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  • Ando M., Higuchi Y., Yuan J., Yoshimura A., Kojima F., Yamanishi Y., Aso Y., Izumi K., Imada M., Maki Y., Nakagawa H., Hobara T., Noguchi Y., Takei J., Hiramatsu Y., Nozuma S., Sakiyama Y., Hashiguchi A., Matsuura E., Okamoto Y., Takashima H. .  Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan .  Annals of Clinical and Translational Neurology11 ( 1 ) 96 - 104   2024.1Reviewed International journal

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Annals of Clinical and Translational Neurology  

    Background and Objectives: The GAA repeat expansion within the fibroblast growth factor 14 (FGF14) gene has been found to be associated with late-onset cerebellar ataxia. This study aimed to investigate the genetic causes of cerebellar ataxia in patients in Japan. Methods: We collected a case series of 940 index patients who presented with chronic cerebellar ataxia and remained genetically undiagnosed after our preliminary genetic screening. To investigate the FGF14 repeat locus, we employed an integrated diagnostic strategy that involved fluorescence amplicon length analysis polymerase chain reaction (PCR), repeat-primed PCR, and long-read sequencing. Results: Pathogenic FGF14 GAA repeat expansions were detected in 12 patients from 11 unrelated families. The median size of the pathogenic GAA repeat was 309 repeats (range: 270–316 repeats). In these patients, the mean age of onset was 66.9 ± 9.6 years, with episodic symptoms observed in 56% of patients and parkinsonism in 30% of patients. We also detected FGF14 repeat expansions in a patient with a phenotype of multiple system atrophy, including cerebellar ataxia, parkinsonism, autonomic ataxia, and bilateral vocal cord paralysis. Brain magnetic resonance imaging (MRI) showed normal to mild cerebellar atrophy, and a follow-up study conducted after a mean period of 6 years did not reveal any significant progression. Discussion: This study highlights the importance of FGF14 GAA repeat analysis in patients with late-onset cerebellar ataxia, particularly when they exhibit episodic symptoms, or their brain MRI shows no apparent cerebellar atrophy. Our findings contribute to a better understanding of the clinical variability of GAA-FGF14-related diseases.

    DOI： 10.1002/acn3.51936

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  • 長友 理沙, 樋口 雄二郎, 武井 潤, 中村 友紀, 橋口 昭大, 高嶋 博 .  末梢神経障害を合併したBcl2-Associated Athanogene 3(BAG3)変異による筋原線維性ミオパチーの1例 .  臨床神経学63 ( 12 ) 836 - 842   2023.12Reviewed

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    Language：Japanese   Publishing type：Research paper (scientific journal)   Publisher：(一社)日本神経学会  

    末梢神経障害を合併したBAG3変異による筋原線維性ミオパチー(myofibrillar myopathy,以下MFMと略記)の1例を経験したので報告する.症例は19歳の女性で,階段昇降や歩行障害が進行した.神経学的に体幹筋と両下肢遠位筋優位の筋力低下を認め,筋生検で縁取り空胞や不整な筋線維配列を確認した.遺伝子解析でBcl2-Associated Athanogene3(BAG3)の病的ヘテロ接合性変異(p.P209L)が判明し,MFM6と診断した.本症は小児期に発症し心筋症を合併する予後不良の稀なミオパチーであるが,軸索型ニューロパチーを合併し,尖足拘縮,体幹屈筋が弱い特徴がある.若年発症のニューロミオパチーでは本疾患を疑い,遺伝子検査を検討すべきである.(著者抄録)

    DOI： 10.5692/clinicalneurol.cn-001915

  • Ando M., Higuchi Y., Yuan J.H., Yoshimura A., Dozono M., Hobara T., Kojima F., Noguchi Y., Takeuchi M., Takei J., Hiramatsu Y., Nozuma S., Nakamura T., Sakiyama Y., Hashiguchi A., Matsuura E., Okamoto Y., Sone J., Takashima H. .  Clinical phenotypic diversity of NOTCH2NLC -related disease in the largest case series of inherited peripheral neuropathy in Japan .  Journal of Neurology Neurosurgery and Psychiatry94 ( 8 ) 622 - 630   2023.8Reviewed International journal

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Journal of Neurology Neurosurgery and Psychiatry  

    Background NOTCH2NLC GGC repeat expansions have been associated with various neurogenerative disorders, including neuronal intranuclear inclusion disease and inherited peripheral neuropathies (IPNs). However, only a few NOTCH2NLC-related disease studies in IPN have been reported, and the clinical and genetic spectra remain unclear. Thus, this study aimed to describe the clinical and genetic manifestations of NOTCH2NLC-related IPNs. Method Among 2692 Japanese patients clinically diagnosed with IPN/Charcot-Marie-Tooth disease (CMT), we analysed NOTCH2NLC repeat expansion in 1783 unrelated patients without a genetic diagnosis. Screening and repeat size determination of NOTCH2NLC repeat expansion were performed using repeat-primed PCR and fluorescence amplicon length analysis-PCR. Results NOTCH2NLC repeat expansions were identified in 26 cases of IPN/CMT from 22 unrelated families. The mean median motor nerve conduction velocity was 41 m/s (range, 30.8-59.4), and 18 cases (69%) were classified as intermediate CMT. The mean age of onset was 32.7 (range, 7-61) years. In addition to motor sensory neuropathy symptoms, dysautonomia and involuntary movements were common (44% and 29%). Furthermore, the correlation between the age of onset or clinical symptoms and the repeat size remains unclear. Conclusions These findings of this study help us understand the clinical heterogeneity of NOTCH2NLC-related disease, such as non-length-dependent motor dominant phenotype and prominent autonomic involvement. This study also emphasise the importance of genetic screening, regardless of the age of onset and type of CMT, particularly in patients of Asian origin, presenting with intermediate conduction velocities and dysautonomia.

    DOI： 10.1136/jnnp-2022-330769

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  • Ando M., Higuchi Y., Yuan J.H., Yoshimura A., Higashi S., Takeuchi M., Hobara T., Kojima F., Noguchi Y., Takei J., Hiramatsu Y., Nozuma S., Sakiyama Y., Hashiguchi A., Matsuura E., Okamoto Y., Nagai M., Takashima H. .  Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan .  Frontiers in Neurology13   952493   2022.8Reviewed International journal

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Frontiers in Neurology  

    The recessive intronic pentanucleotide repeat AAGGG expansion of replication factor complex subunit 1 (RFC1) is associated with cerebellar ataxia, sensory neuropathy, and vestibular areflexia syndrome. And the clinical spectrum has been continuously expanding. We conducted this study to demonstrate the clinical and genetic features of a large-scale case series of Japanese patients with cerebellar ataxia with RFC1 repeat expansions. We examined 1,289 Japanese patients with cerebellar ataxia and analyzed RFC1 repeat expansions in 840 patients, excluding those with genetic diagnoses or an autosomal dominant inheritance pattern. For individuals where no product was obtained by flanking polymerase chain reaction (PCR), repeat-primed PCR was performed using primers specific for the following four repeat motifs: AAAAG, AAAGG, AAGGG, and ACAGG. RFC1 analysis revealed multitype biallelic pathogenic repeat expansions in 15 patients, including (AAGGG)exp/(AAGGG)exp in seven patients, (ACAGG)exp/(ACAGG)exp in three patients, (AAGGG)exp/(ACAGG)exp in four patients, and (AAGGG)exp/(AAAGG)<inf>15</inf>(AAGGG)exp in one patient. Clinical analysis showed various combinations of cerebellar ataxia, vestibular dysfunction, neuropathy, cognitive decline, autonomic dysfunction, chronic cough, pyramidal tract disorder, parkinsonism, involuntary movement, and muscle fasciculation. Pathological RFC1 repeat expansions account for 1.8% (15/840) of undiagnosed patients with cerebellar ataxia and sporadic/recessive/unclassified inheritance. Screening of RFC1 repeat expansions should be considered in patients with cerebellar ataxia, irrespective of their subtype and onset age.

    DOI： 10.3389/fneur.2022.952493

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  • Ando M., Higuchi Y., Okamoto Y., Yuan J., Yoshimura A., Takei J., Taniguchi T., Hiramatsu Y., Sakiyama Y., Hashiguchi A., Matsuura E., Nakagawa H., Sonoda K., Yamashita T., Tamura A., Terasawa H., Mitsui J., Ishiura H., Tsuji S., Takashima H. .  An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families .  Journal of Human Genetics67 ( 7 ) 399 - 403   2022.7Reviewed International journal

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Journal of Human Genetics  

    Background and aims: Mutations in neurofilament genes have been linked to several neuromuscular disorders. The neurofilament heavy (NEFH) gene was identified as the causative gene of Charcot–Marie–Tooth disease type 2CC (CMT2CC) in 2016, with a toxic gain of function mechanism caused by the translation and aggregation of cryptic amyloidogenic element (CAE) in the 3′ untranslated region (UTR). But the NEFH-related clinical and genetic spectrums are still unclear in Japan. Methods: We analyzed all variants in the NEFH gene from our in-house whole-exome sequencing data, established from Japanese nationwide patients with neuromuscular disorders, including Charcot–Marie–Tooth (CMT) disease and spinal muscular atrophy (SMA). Results: We identified a c.3017dup (p.Pro1007Alafs*56) variant in NEFH from three families clinically diagnosed with CMT, and one family with SMA. In addition to the patients presented with typical peripheral neuropathies, pyramidal signs were observed from one CMT patient. Whereas the SMA patients showed severe characteristic weakness of triceps brachii and quadriceps femoris. All of these four families reside in Kagoshima Prefecture of Japan, and a following haplotype analysis strongly suggests a founder effect. Interpretation: This is the original report referring to a founder mutation in NEFH. The clinical diversity in our study, comprising CMT, with or without pyramidal signs, and SMA, suggest an extensive involvement of peripheral nerve, anterior horn cells, or both. Our findings broaden the phenotypic spectrum of NEFH-related disorders.

    DOI： 10.1038/s10038-022-01019-y

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  • Ando M., Higuchi Y., Yuan J., Yoshimura A., Taniguchi T., Takei J., Takeuchi M., Hiramatsu Y., Shimizu F., Kubota M., Takeshima A., Ueda T., Koh K., Nagaoka U., Tokashiki T., Sawai S., Sakiyama Y., Hashiguchi A., Sato R., Kanda T., Okamoto Y., Takashima H. .  Novel heterozygous variants of SLC12A6 in Japanese families with Charcot–Marie–Tooth disease .  Annals of Clinical and Translational Neurology9 ( 7 ) 902 - 911   2022.7Reviewed International journal

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Annals of Clinical and Translational Neurology  

    Background: Recessive mutations in SLC12A6 have been linked to hereditary motor sensory neuropathy with agenesis of the corpus callosum. Patients with early-onset peripheral neuropathy associated with SLC12A6 heterozygous variants were reported in 2016. Only five families and three variants have been reported to date, and the spectrum is unclear. Here, we aim to describe the clinical and mutation spectra of SLC12A6-related Charcot–Marie–Tooth (CMT) disease in Japanese patients. Methods: We extracted SLC12A6 variants from our DNA microarray and targeted resequencing data obtained from 2598 patients with clinically suspected CMT who were referred to our genetic laboratory by neurological or neuropediatric departments across Japan. And we summarized the clinical and genetic features of these patients. Results: In seven unrelated families, we identified one previously reported and three novel likely pathogenic SLC12A6 heterozygous variants, as well as two variants of uncertain significance. The mean age of onset for these patients was 17.5 ± 16.1 years. Regarding electrophysiology, the median motor nerve conduction velocity was 39.6 ± 9.5 m/sec. For the first time, we observed intellectual disability in three patients. One patient developed epilepsy, and her brain MRI revealed frontal and temporal lobe atrophy without changes in white matter and corpus callosum. Conclusions: Screening for the SLC12A6 gene should be considered in patients with CMT, particularly those with central nervous system lesions, such as cognitive impairment and epilepsy, regardless of the CMT subtype.

    DOI： 10.1002/acn3.51603

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  • Ando M., Higuchi Y., Yuan J., Yoshimura A., Taniguchi T., Kojima F., Noguchi Y., Hobara T., Takeuchi M., Takei J., Hiramatsu Y., Sakiyama Y., Hashiguchi A., Okamoto Y., Mitsui J., Ishiura H., Tsuji S., Takashima H. .  Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible .  Biomedicines10 ( 7 )   2022.7Reviewed International journal

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

    Various genomic variants were linked to inherited peripheral neuropathies (IPNs), including large duplication/deletion and repeat expansion, making genetic diagnosis challenging. This large case series aimed to identify the genetic characteristics of Japanese patients with IPNs. We collected data on 2695 IPN cases throughout Japan, in which PMP22 copy number variation (CNV) was pre-excluded. Genetic analyses were performed using DNA microarrays, next-generation sequencing-based gene panel sequencing, whole-exome sequencing, CNV analysis, and RFC1 repeat expansion analysis. The overall diagnostic rate and the genetic spectrum of patients were summa-rized. We identified 909 cases with suspected IPNs, pathogenic or likely pathogenic variants. The most common causative genes were MFN2, GJB1, MPZ, and MME. MFN2 was the most common cause for early-onset patients, whereas GJB1 and MPZ were the leading causes of middle-onset and late-onset patients, respectively. Meanwhile, GJB1 and MFN2 were leading causes for demyelinating and axonal subtypes, respectively. Additionally, we identified CNVs in MPZ and GJB1 genes and RFC1 repeat expansions. Comprehensive genetic analyses explicitly demonstrated the genetic basis of our IPN case series. A further understanding of the clinical characteristics of IPN and genetic spectrum would assist in developing efficient genetic testing strategies and facilitate early diagnosis.

    DOI： 10.3390/biomedicines10071546

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  • Ando M., Higuchi Y., Yuan J.H., Yoshimura A., Kitao R., Morimoto T., Taniguchi T., Takeuchi M., Takei J., Hiramatsu Y., Sakiyama Y., Hashiguchi A., Okamoto Y., Mitsui J., Ishiura H., Tsuji S., Takashima H. .  Novel de novo POLR3B mutations responsible for demyelinating Charcot–Marie–Tooth disease in Japan .  Annals of Clinical and Translational Neurology9 ( 5 ) 747 - 755   2022.5Reviewed International journal

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    Language：English   Publishing type：Research paper (scientific journal)   Publisher：Annals of Clinical and Translational Neurology  

    Background: Biallelic POLR3B mutations cause a rare hypomyelinating leukodystrophy. De novo POLR3B heterozygous mutations were recently associated with afferent ataxia, spasticity, variable intellectual disability, and epilepsy, and predominantly demyelinating sensorimotor peripheral neuropathy. Methods: We performed whole-exome sequencing (WES) of DNA samples from 804 Charcot–Marie–Tooth (CMT) cases that could not be genetically diagnosed by DNA-targeted resequencing microarray using next-generation sequencers. Using WES data, we analyzed the POLR3B mutations and confirmed their clinical features. Results: We identified de novo POLR3B heterozygous missense mutations in two patients. These patients presented with early-onset demyelinating sensorimotor neuropathy without ataxia, spasticity, or cognitive impairment. Patient 1 showed mild cerebellar atrophy and spinal cord atrophy on magnetic resonance imaging and eventually died of respiratory failure in her 50s. We classified these mutations as pathogenic based on segregation studies, comparison with control database, and in silico analysis. Conclusion: Our study is the third report on patients with demyelinating CMT harboring heterozygous POLR3B mutations and verifies the pathogenicity of POLR3B mutations in CMT. Although extremely rare in our large Japanese case series, POLR3B mutations should be added to the CMT-related gene panel for comprehensive genetic screening, particularly for patients with early-onset demyelinating CMT.

    DOI： 10.1002/acn3.51555

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Presentations

  • 橋口 規子, 長友 理沙, 武井 潤, 大山 賢, 樋口 雄二郎, 高嶋 博   糖尿病性腰仙部根神経叢炎,有痛性神経障害と考えられた1例の経過からみる神経障害を見逃さないための視点  

    糖尿病  2023.4  (一社)日本糖尿病学会

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    Language：Japanese   Presentation type：Oral presentation (general)  

  • 崎山 佑介, 武井 潤, 吉村 明子, 湯地 美佳, 安藤 匡宏, 平松 有, 田代 雄一, 高嶋 博   神経感染症におけるショットガンメタゲノム解析の有用性と課題  

    臨床神経学  2021.9  (一社)日本神経学会

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    Language：Japanese   Presentation type：Poster presentation  

  • 崎山 佑介, 吉村 明子, 湯地 美佳, 武井 潤, 安藤 匡宏, 高嶋 博   神経感染症におけるショットガンメタゲノム解析の役割について  

    臨床神経学  2022.10  (一社)日本神経学会

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    Language：Japanese   Presentation type：Poster presentation  

  • 橋元 彩, 谷合 洋造, 中江 健太郎, 武井 潤, 永田 龍世, 大山 賢, 樋口 雄二郎, 崎山 佑介, 高嶋 博   痙性歩行を呈した頸椎症合併SCA8の1例  

    臨床神経学  2023.2  (一社)日本神経学会

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  • 穂原 貴裕, 安藤 匡宏, 樋口 雄二郎, 吉村 明子, 袁 軍輝, 野口 悠, 児島 史一, 堂園 美香, 竹内 美佳, 武井 潤, 橋口 昭大, 岡本 裕嗣, 高嶋 博   本邦のgiant-axonal neuropathy(GAN)4家系の臨床的特徴  

    臨床神経学  2023.9  (一社)日本神経学会

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  • 向井 聡志, 長友 理沙, 武井 潤, 川畑 裕太郎, 大山 賢, 樋口 雄二郎, 高嶋 博   末梢神経障害を合併したBAG3変異による筋原線維性ミオパチー(MFM6)の1例  

    臨床神経学  2023.5  (一社)日本神経学会

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    Language：Japanese   Presentation type：Oral presentation (general)  

  • 西中間 祐希, 堂園 美香, 平方 翔太, 武井 潤, 永田 龍世, 樋口 雄二郎, 高嶋 博   成人大脳型副腎白質ジストロフィーの一例から考える早期診断の重要性と造血幹細胞移植の有用性  

    臨床神経学  2023.10  (一社)日本神経学会

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    Language：Japanese   Presentation type：Oral presentation (general)  

  • 尾ノ上 祐大, 平方 翔太, 堂園 美香, 武井 潤, 永田 龍世, 樋口 雄二郎, 高嶋 博   感冒を契機に急激に悪化した抗ガングリオニックアセチルコリン受容体(gAChR)抗体陰性自己免疫性自律神経節障害(AAG)の1例  

    臨床神経学  2024.3  (一社)日本神経学会

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  • 平松 有, 尾山 琴海, 武井 潤, 吉田 崇志, 高畑 克徳, 湯地 美佳, 安藤 匡宏, 田代 雄一, 崎山 佑介, 高嶋 博   当院における抗MOG抗体関連疾患の臨床的特徴の検討  

    臨床神経学  2021.9  (一社)日本神経学会

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  • 武井 潤, 吉村 明子, 安藤 匡宏, 谷口 雄大, 樋口 雄二郎, 崎山 佑介, 橋口 昭大, 松浦 英治, 岡本 裕嗣, 高嶋 博   当院におけるHTRA1関連常染色体優性脳小血管病の検討  

    臨床神経学  2021.9  (一社)日本神経学会

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    Language：Japanese   Presentation type：Poster presentation  

  • 兒玉 憲人, 西中間 祐希, 甲斐 祐介, 濱之上 仁美, 堂園 美香, 野口 悠, 武井 潤, 永田 龍世, 樋口 雄二郎, 菅田 淳, 比嘉 那優大, 米澤 大, 霧島 茉莉, 谷本 昭英, 高嶋 博   当院で経験した脳アミロイドアンギオパチー関連炎症の3例の検討  

    Dementia Japan  2023.10  (一社)日本認知症学会

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  • 大山 賢, 武井 潤, 森 拓馬, 吉村 明子, 安藤 匡宏, 樋口 雄二郎, 崎山 佑介, 橋口 昭大, 高嶋 博   当科におけるCADASILとHTRA1関連脳小血管病の比較  

    臨床神経学  2025.9  (一社)日本神経学会

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  • 内村 千紗子, 堂園 美香, 武井 潤, 永田 龍世, 樋口 雄二郎, 松浦 英治, 高嶋 博, 木村 暁夫, 下畑 享良   当科で経験したGFAP-A3例に対する治療反応性の検討  

    神経治療学  2023.10  (一社)日本神経治療学会

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  • 武井 潤, 安藤 匡宏, 樋口 雄二郎, 吉村 明子, 袁 軍輝, 徳田 真, 兒玉 憲人, 森 拓馬, 大山 賢, 穂原 貴裕, 児島 史一, 崎山 佑介, 橋口 昭大, 高嶋 博   当施設で経験した神経核内封入体病5例の臨床的特徴に関する検討  

    Dementia Japan  2024.10  (一社)日本認知症学会

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  • 穂原 貴裕, 児島 史一, 野口 悠, 竹内 美佳, 兒玉 憲人, 武井 潤, 吉村 明子, 袁 軍輝, 安藤 匡宏, 平松 有, 樋口 雄二郎, 崎山 佑介, 橋口 昭大, 高嶋 博   多様な臨床症状を呈する本邦のGARS遺伝子変異によるCMT2D/HMN5A 12例の検討  

    末梢神経  2024.12  日本末梢神経学会

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  • 吉元 裕亮, 平方 翔太, 武井 潤, 平松 有, 安藤 匡宏, 田代 雄一, 樋口 雄二郎, 荒田 仁, 崎山 佑介, 高嶋 博   右中脳動脈解離を発症後に末梢神経障害が顕在化したPOEMS症候群の一例  

    臨床神経学  2021.6  (一社)日本神経学会

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  • 安藤 匡宏, 樋口 雄二郎, 袁 軍輝, 吉村 明子, 穂原 貴裕, 竹内 美佳, 武井 潤, 平松 有, 崎山 佑介, 橋口 昭大, 岡本 裕嗣, 松浦 英治, 高嶋 博   南九州地域を中心とした小脳性運動失調症におけるRFC1遺伝子解析  

    臨床神経学  2022.10  (一社)日本神経学会

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  • 吉村 明子, 樋口 雄二郎, 谷口 雄大, 武井 潤, 安藤 匡宏, 崎山 佑介, 橋口 昭大, 岡本 裕嗣, 高嶋 博   南九州地域における遺伝性運動失調症の包括的遺伝子解析  

    臨床神経学  2021.9  (一社)日本神経学会

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  • 湯地 美佳, 安藤 匡宏, 吉村 明子, 谷口 雄大, 武井 潤, 平松 有, 樋口 雄二郎, 崎山 佑介, 橋口 昭大, 高嶋 博, 岡本 裕嗣, 神林 隆道, 渡嘉敷 崇, 藤崎 なつみ, 黒田 宙, 菊池 昭夫, 森井 芙貴子   Sorbitol Dehydrogenase(SORD)遺伝子変異を有する遺伝性ニューロパチーの5家系  

    臨床神経学  2022.10  (一社)日本神経学会

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  • 青山 真祐奈, 平方 翔太, 堂園 美香, 武井 潤, 永田 龍世, 樋口 雄二郎, 松浦 英治, 高嶋 博   SARS-CoV-2ワクチン接種後に発症した孤発性Creutzfeldt-Jakob病(sCJD)の1例  

    臨床神経学  2024.1  (一社)日本神経学会

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  • 中江 健太郎, 久保 純平, 野口 悠, 児島 史一, 武井 潤, 安藤 匡宏, 大山 賢, 崎山 佑介, 高嶋 博   PRNP codon129多型(V/V)とV180I変異を認めたhereditary Creutzfeldt-Jakob disease(hCJD)の一例  

    臨床神経学  2021.11  (一社)日本神経学会

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  • 武井 潤, 樋口 雄二郎, 安藤 匡宏, 吉村 明子, 袁 軍輝, 大山 賢, 崎山 佑介, 橋口 昭大, 高嶋 博   NOTCH3関連CADASILにおけるMRIの特徴　Microbleed clustering in thalamus(MCT) sign  

    臨床神経学  2024.10  (一社)日本神経学会

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  • 長友 理沙, 武井 潤, 大山 賢, 安藤 匡宏, 樋口 雄二郎, 橋口 昭大, 松浦 英治, 高嶋 博   NEFH遺伝子変異によるCharcot-Marie-Tooth病の表現型の広がり  

    臨床神経学  2023.9  (一社)日本神経学会

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  • 西 萌生, 谷合 洋造, 中江 健太郎, 児島 史一, 武井 潤, 永田 龍世, 大山 賢, 樋口 雄二郎, 崎山 佑介, 高嶋 博   COVID-19ワクチン接種後に帯状疱疹ウイルス脳炎を呈した一例  

    NEUROINFECTION  2022.10  日本神経感染症学会

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  • 安藤 匡宏, 吉村 明子, 谷口 雄大, 武井 潤, 平松 有, 樋口 雄二郎, 田代 雄一, 崎山 佑介, 橋口 昭大, 岡本 裕嗣, 高嶋 博   Charcot-Marie-Tooth病におけるcopy number variation解析  

    臨床神経学  2021.9  (一社)日本神経学会

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  • 谷口 雄大, 安藤 匡宏, 樋口 雄二郎, 武井 潤, 湯地 美佳, 吉村 明子, 崎山 佑介, 橋口 昭大, 岡本 裕嗣, 高嶋 博   Charcot-Marie-Tooth病(CMT)における髄液蛋白の検討  

    臨床神経学  2021.9  (一社)日本神経学会

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  • 池之上 博任, 橋元 彩, 尾山 琴海, 武井 潤   緑茶3L連日飲用により低カリウム血性ミオパチーをきたした一例  

    臨床神経学  2025.4  (一社)日本神経学会

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  • 田中 啓文, 長友 理沙, 山下 悠亮, 武井 潤, 永田 龍世, 大山 賢, 樋口 雄二郎, 崎山 佑介, 高嶋 博   脊髄肥厚性硬膜炎で発症したANCA関連疾患の1例  

    臨床神経学  2022.10  (一社)日本神経学会

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  • 平方 翔太, 堂園 美香, 武井 潤, 永田 龍世, 樋口 雄二郎, 霧島 茉莉, 田崎 貴嗣, 北薗 育美, 東 美智代, 谷本 昭英, 高嶋 博   腫瘤様脱髄性病変を呈した10例の臨床的検討  

    臨床神経学  2024.10  (一社)日本神経学会

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  • 甲斐 祐介, 兒玉 憲人, 平方 翔太, 武井 潤, 平松 有, 樋口 雄二郎, 崎山 佑介, 霧島 茉莉, 谷本 昭英, 高嶋 博   臨床的にトキソプラズマ脳炎を疑い、剖検にて診断し得た一例  

    NEUROINFECTION  2023.10  日本神経感染症学会

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  • 寺原 真咲, 平方 翔太, 尾ノ上 祐大, 竹歳 卓人, 穂原 貴裕, 武井 潤, 大山 賢, 樋口 雄二郎, 高嶋 博   舞踏運動を呈したNOTCH2NLC related GGC repeat expansion disordersの1例  

    臨床神経学  2024.9  (一社)日本神経学会

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  • 池之上 博任, 尾山 琴海, 武井 潤   速効性治療として抗FcRn抗体フラグメント製剤を導入した全身型重症筋無力症の2例の臨床的検討  

    神経治療学  2025.10  (一社)日本神経治療学会

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  • 森 拓馬, 武井 潤, 大山 賢, 児島 史一, 穂原 貴裕, 吉村 明子, 安藤 匡宏, 樋口 雄二郎, 崎山 佑介, 橋口 昭大, 高嶋 博   遺伝性白質脳症・脳卒中におけるMCT signの出現頻度と遺伝的背景の検討  

    臨床神経学  2025.9  (一社)日本神経学会

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  • 永田 龍世, 樋口 雄二郎, 尾ノ上 祐大, 下村 真珠, 武井 潤, 高嶋 博   重度の起立性低血圧を有する自律神経障害患者3例に施行した免疫加療に関する検討  

    神経治療学  2024.10  (一社)日本神経治療学会

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  • 武井 潤, 池之上 博任, 橋元 彩, 尾山 琴海, 吉村 道由, 東郷 泰久   電気生理検査を契機に診断に至った梨状筋症候群の1例  

    臨床神経学  2025.1  (一社)日本神経学会

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