2023/10/20 更新

写真a

ヒラマツ ユウ
平松 有
Hiramatsu Yu
所属
医歯学域附属病院 附属病院 診療センター 救命救急センター 特任助教
職名
特任助教

経歴

  • 鹿児島大学   特任助教

    2021年4月 - 現在

所属学協会

  • 日本神経学会

    2009年5月 - 現在

  • 日本内科学会

    2009年4月 - 現在

 

論文

  • Nozuma S., Matsuura E., Tashiro Y., Nagata R., Ando M., Hiramatsu Y., Higuchi Y., Sakiyama Y., Hashiguchi A., Michizono K., Higashi K., Matsuzaki T., Kodama D., Tanaka M., Yamano Y., Moritoyo T., Kubota R., Takashima H. .  Efficacy of l-Arginine treatment in patients with HTLV-1-associated neurological disease .  Annals of Clinical and Translational Neurology10 ( 2 ) 237 - 245   2023年2月

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    記述言語:日本語   出版者・発行元:Annals of Clinical and Translational Neurology  

    Objective: HTLV-1 infection causes HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), resulting in loss of motor function. In this Phase 2 trial, we assessed the efficacy and safety of l-arginine in patients with HAM/TSP. Methods: This open-label, single-arm, Phase 2 study enrolled patients diagnosed with HAM/TSP. Patients received l-arginine at a dose of 20 g orally for 1 week and were followed-up for 3 weeks. The primary endpoint was change in walking speed in the 10-m walk test (10MWT). The main secondary endpoints were change in Timed Up and Go Test (TUGT) time, improvement in inflammatory markers in cerebrospinal fluid (CSF), safety, and tolerability. Results: The study enrolled 20 patients (13 [65%] female) with a mean age of 67.8 years (95% CI 62.3 to 73.3). Although the primary endpoint, the changes in 10MWT time between baseline (Day 0) and Day 7, did not reach statistical significance (mean percent change in time −3.5%, 95% CI −10.8% to 3.7%; P = 0.32), a significant improvement was detected between baseline and Day 14 (−9.4%, 95% CI −16.6% to −2.2%; P = 0.01). Significant improvements were also observed in selected secondary endpoints, including in TUGT time (−9.1%, 95% CI −15.5% to −2.7%; P < 0.01), and in neopterin concentration in CSF (−2.1 pmol/mL, 95% CI −3.8 to −0.5; P = 0.01). Adverse events were infrequent, mild, and resolved rapidly. Interpretation: l-arginine therapy improved motor function and decreased CSF inflammatory markers. l-arginine thus represents a promising therapeutic option for patients with HAM/TSP. Trial Registration Number: UMIN000023854.

    DOI: 10.1002/acn3.51715

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  • Yuan J.H., Higuchi Y., Hashiguchi A., Ando M., Yoshimura A., Nakamura T., Hiramatsu Y., Sakiyama Y., Takashima H. .  Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan .  Frontiers in Neurology14   1078195   2023年1月

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    記述言語:日本語   出版者・発行元:Frontiers in Neurology  

    Introduction: Genetic factors are recognized as the major reason for patients with periodic paralysis. The goal of this study was to determine the genetic causes of periodic paralysis in Japan. Methods: We obtained a Japanese nationwide case series of 119 index patients (108 men and 11 women) clinically suspected of periodic paralysis, and a gene panel analysis, targeting CACNA1S, SCN4A, and KCNJ2 genes, was conducted. Results: From 34 cases, 25 pathogenic/likely pathogenic/unknown significance variants were detected in CACNA1S (nine cases), SCN4A (19 cases), or KCNJ2 (six cases), generating a molecular diagnostic rate of 28.6%. In total, seven variants have yet been found linked to periodic paralysis previously. The diagnostic yield of patients with hypokalemic and hyperkalemic periodic paralyzes was 26.2 (17/65) and 32.7% (17/52), respectively. A considerably higher yield was procured from patients with than without positive family history (18/25 vs. 16/94), onset age ≤20 years (24/57 vs. 9/59), or recurrent paralytic attacks (31/94 vs. 3/25). Discussion: The low molecular diagnostic rate and specific genetic proportion of the present study highlight the etiological complexity of patients with periodic paralysis in Japan.

    DOI: 10.3389/fneur.2023.1078195

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  • 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 Psychiatry   2023年

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    記述言語:日本語   出版者・発行元: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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  • Nagata R., Matsuura E., Nozuma S., Dozono M., Noguchi Y., Ando M., Hiramatsu Y., Kodama D., Tanaka M., Kubota R., Yamakuchi M., Higuchi Y., Sakiyama Y., Arata H., Higashi K., Hashiguchi T., Nakane S., Takashima H. .  Anti-ganglionic acetylcholine receptor antibodies in functional neurological symptom disorder/conversion disorder .  Frontiers in Neurology14   1137958   2023年

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    記述言語:日本語   出版者・発行元:Frontiers in Neurology  

    Objective: Autoimmune autonomic ganglionopathy (AAG) is a rare disorder characterized by autonomic failure associated with the presence of anti-ganglionic acetylcholine receptor (gAChR) antibodies; however, several studies have reported that individuals with anti-gAChR antibodies present with central nervous system (CNS) symptoms such as impaired consciousness and seizures. In the present study, we investigated whether the presence of serum anti-gAChR antibodies correlated with autonomic symptoms in patients with functional neurological symptom disorder/conversion disorder (FNSD/CD). Methods: Clinical data were collected for 59 patients presenting with neurologically unexplained motor and sensory symptoms at the Department of Neurology and Geriatrics between January 2013 and October 2017 and who were ultimately diagnosed with FNSD/CD according to the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition. Correlations between serum anti-gAChR antibodies and clinical symptoms and laboratory data were analyzed. Data analysis was conducted in 2021. Results: Of the 59 patients with FNSD/CD, 52 (88.1%) exhibited autonomic disturbances and 16 (27.1%) were positive for serum anti-gAChR antibodies. Cardiovascular autonomic dysfunction, including orthostatic hypotension, was significantly more prevalent (75.0 vs. 34.9%, P = 0.008), whereas involuntary movements were significantly less prevalent (31.3 vs. 69.8%, P = 0.007), among anti-gAChR antibody-positive compared with -negative patients. Anti-gAChR antibody serostatus did not correlate significantly with the frequency of other autonomic, sensory, or motor symptoms analyzed. Conclusions: An autoimmune mechanism mediated by anti-gAChR antibodies may be involved in disease etiology in a subgroup of FNSD/CD patients.

    DOI: 10.3389/fneur.2023.1137958

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  • Higuchi Y., Ando M., Kojima F., Yuan J., Hashiguchi A., Yoshimura A., Hiramatsu Y., Nozuma S., Fukumura S., Yahikozawa H., Abe E., Toyoshima I., Sugawara M., Okamoto Y., Matsuura E., Takashima H. .  Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum .  Journal of Neurology   2023年

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    記述言語:日本語   出版者・発行元:Journal of Neurology  

    Background and objective: Biallelic mutations in the COA7 gene have been associated with spinocerebellar ataxia with axonal neuropathy type 3 (SCAN3), and a notable clinical diversity has been observed. We aim to identify the genetic and phenotypic spectrum of COA7-related disorders. Methods: We conducted comprehensive genetic analyses on the COA7 gene within a large group of Japanese patients clinically diagnosed with inherited peripheral neuropathy or cerebellar ataxia. Results: In addition to our original report, which involved four patients until 2018, we identified biallelic variants of the COA7 gene in another three unrelated patients, and the variants were c.17A > G (p.D6G), c.115C > T (p.R39W), and c.449G > A (p.C150Y; novel). Patient 1 presented with an infantile-onset generalized dystonia without cerebellar ataxia. Despite experiencing an initial transient positive response to levodopa and deep brain stimulation, he became bedridden by the age of 19. Patient 2 presented with cerebellar ataxia, neuropathy, as well as parkinsonism, and showed a slight improvement upon levodopa administration. Dopamine transporter SPECT showed decreased uptake in the bilateral putamen in both patients. Patient 3 exhibited severe muscle weakness, respiratory failure, and feeding difficulties. A haplotype analysis of the mutation hotspot in Japan, c.17A > G (p.D6G), uncovered a common haplotype block. Conclusion: COA7-related disorders typically encompass a spectrum of conditions characterized by a variety of major (cerebellar ataxia and axonal polyneuropathy) and minor (leukoencephalopathy, dystonia, and parkinsonism) symptoms, but may also display a dystonia-predominant phenotype. We propose that COA7 should be considered as a new causative gene for infancy-onset generalized dystonia, and COA7 gene screening is recommended for patients with unexplained dysfunctions of the central and peripheral nervous systems.

    DOI: 10.1007/s00415-023-11998-3

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  • Higuchi Y., Ando M., Yoshimura A., Hakotani S., Koba Y., Sakiyama Y., Hiramatsu Y., Tashiro Y., Maki Y., Hashiguchi A., Yuan J., Okamoto Y., Matsuura E., Takashima H. .  Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan .  Cerebellum21 ( 5 ) 851 - 860   2022年10月

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    記述言語:日本語   出版者・発行元:Cerebellum  

    The presence of fragile X mental retardation 1 (FMR1) premutation has been linked to patients with a certain type of cerebellar ataxia, the fragile X-associated tremor/ataxia syndrome (FXTAS). However, its prevalence in Japan has yet to be clarified. The aim of the present study is to determine the prevalence of FXTAS in Japanese patients with cerebellar ataxia and to describe their clinical characteristics. DNA samples were collected from 1328 Japanese patients with cerebellar ataxia, referred for genetic diagnosis. Among them, 995 patients with negative results for the most common spinocerebellar ataxia subtypes were screened for FMR1 premutation. Comprehensive clinical and radiological analyses were performed for the patients harbouring FMR1 premutation. We herein identified FMR1 premutation from one female and two male patients, who satisfied both clinical and radiological criteria of FXTAS (0.3%; 3/995) as well. Both male patients presented with high signal intensity of corticomedullary junction on diffusion-weighted magnetic resonance imaging, a finding comparable to that of neuronal intranuclear inclusion disease. The female patient mimicked multiple system atrophy in the early stages of her disease and developed aseptic meningitis with a suspected immune-mediated mechanism after the onset of FXTAS, which made her unique. Despite the lower prevalence rate in Japan than the previous reports in other countries, the present study emphasises the necessity to consider FXTAS with undiagnosed ataxia, regardless of men or women, particularly for those cases presenting with similar clinical and radiological findings with multiple system atrophy or neuronal intranuclear inclusion disease.

    DOI: 10.1007/s12311-021-01323-x

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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年8月

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    記述言語:日本語   出版者・発行元: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)15(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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  • Hiramatsu Y., Okamoto Y., Yoshimura A., Yuan J.H., Ando M., Higuchi Y., Hashiguchi A., Matsuura E., Nozaki F., Kumada T., Murayama K., Suzuki M., Yamamoto Y., Matsui N., Miyazaki Y., Yamaguchi M., Suzuki Y., Mitsui J., Ishiura H., Tanaka M., Morishita S., Nishino I., Tsuji S., Takashima H. .  Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes .  Journal of Neurology269 ( 8 ) 4129 - 4140   2022年8月

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    記述言語:日本語   出版者・発行元:Journal of Neurology  

    Mitochondrial disorders are a group of clinically and genetically heterogeneous multisystem disorders and peripheral neuropathy is frequently described in the context of mutations in mitochondrial-related nuclear genes. This study aimed to identify the causative mutations in mitochondrial-related nuclear genes in suspected hereditary peripheral neuropathy patients. We enrolled a large Japanese cohort of clinically suspected hereditary peripheral neuropathy patients who were mutation negative in the prescreening of the known Charcot–Marie–Tooth disease-causing genes. We performed whole-exome sequencing on 247 patients with autosomal recessive or sporadic inheritance for further analysis of 167 mitochondrial-related nuclear genes. We detected novel bi-allelic likely pathogenic/pathogenic variants in four patients, from four mitochondrial-related nuclear genes: pyruvate dehydrogenase beta-polypeptide (PDHB), mitochondrial poly(A) polymerase (MTPAP), hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase, beta subunit (HADHB), and succinate-CoA ligase ADP-forming beta subunit (SUCLA2). All these patients showed sensory and motor axonal polyneuropathy, combined with central nervous system or multisystem involvements. The pathological analysis of skeletal muscles revealed mild neurogenic changes without significant mitochondrial abnormalities. Targeted screening of mitochondria-related nuclear genes should be considered for patients with complex hereditary axonal polyneuropathy, accompanied by central nervous system dysfunctions, or with unexplainable multisystem disorders.

    DOI: 10.1007/s00415-022-11026-w

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  • Ando Masahiro, Higuchi Yujiro, Okamoto Yuji, Yuan Junhui, Yoshimura Akiko, Takei Jun, Taniguchi Takaki, Hiramatsu Yu, Sakiyama Yusuke, Hashiguchi Akihiro, Matsuura Eiji, Nakagawa Hiroto, Sonoda Ken, Yamashita Toru, Tamura Akiko, Terasawa Hideo, Mitsui Jun, Ishiura Hiroyuki, Tsuji Shoji, Takashima Hiroshi .  複数の日本人家系に認められた、NHFH遺伝子の創始者変異により広範囲にわたる表現型スペクトラムの発症(An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families) .  Journal of Human Genetics67 ( 7 ) 399 - 403   2022年7月

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    記述言語:英語   出版者・発行元:Nature Publishing Group  

    複数の日本人家系から、NEFH遺伝子に関連した臨床/遺伝学的スペクトラムが認められたため報告した。Charcot-Marie-Tooth(CMT)病および脊髄性筋萎縮症(SMA)を含む、日本全国の神経筋疾患患者から得た全エクソームシークエンシングデータを用いて、NEFH遺伝子の全てのバリアントを解析した。その結果、臨床的にCMTと診断された3家系(男性6例、女性1例、検査時年齢55歳~81歳)と、SMAと診断された1家系(男性1例、検査時年齢38歳)から、NEFH遺伝子にバリアントc.3017dup (p.Pro1007Alafs*56)が同定された。また、典型的な末梢神経障害を呈した患者に加え、CMT患者1例には錐体路兆候が、SMA患者には上腕三頭筋と大腿四頭筋に特徴的な、重度の筋力低下も認められた。さらに、これら4家系が全て鹿児島県在住の家系で、その後のハプロタイプ解析では、創始者効果が強く示唆された。本報はNEFH遺伝子の創始者変異に関する初報告例となり、得られた知見により、NEFH遺伝子関連疾患の表現型スペクトラムが拡大された。

  • 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年7月

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    記述言語:日本語   出版者・発行元: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年7月

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    記述言語:日本語   出版者・発行元: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., 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年7月

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    記述言語:日本語   出版者・発行元: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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  • 武 義人, 平松 有, 吉元 裕亮, 吉田 崇志, 田中 咲衣, 上山 未紗, 岩田 大輝, 今田 美南子, 髙畑 克徳, 安藤 匡宏, 田代 雄一, 﨑山 佑介, 荒田 仁, 松浦 英治, 髙嶋 博 .  脾臓低形成がみられ,椎間板炎と脊髄硬膜外膿瘍,傍椎体膿瘍を合併した肺炎球菌性髄膜炎の1例 .  Journal of Japan Society of Neurological Emergencies & Critical Care34 ( 2 ) 21 - 25   2022年6月

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    記述言語:日本語   出版者・発行元:一般社団法人 日本神経救急学会  

    DOI: 10.11170/jjsnecc.34.2_21

  • 武 義人, 平松 有, 吉元 裕亮, 吉田 崇志, 田中 咲衣, 上山 未紗, 岩田 大輝, 今田 美南子, 高畑 克徳, 安藤 匡宏, 田代 雄一, 崎山 佑介, 荒田 仁, 松浦 英治, 高嶋 博 .  脾臓低形成がみられ、椎間板炎と脊髄硬膜外膿瘍、傍椎体膿瘍を合併した肺炎球菌性髄膜炎の1例 .  Journal of Japan Society of Neurological Emergencies & Critical Care34 ( 2 ) 21 - 25   2022年6月

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    記述言語:日本語   出版者・発行元:(株)へるす出版  

    症例は62歳男性で、入院前日より頭痛が再燃し、両耳の難聴も出現したため当院に救急搬送された。症状および検査所見から細菌性髄膜炎と診断し、急性腎不全を考盧してセフトリアキソン、リネゾリドの点滴静注および4日間のデキサメタゾンの静注を開始した。入院12日目の髄液検査でいったん改善していた細胞数、蛋白が再上昇し、背部痛も悪化、CT画像で脾臓低形成がみられ、腎機能も改善したことから、抗菌薬をメロペネム、バンコマイシンへ変更した。入院16日目の画像では腰椎3/4間に椎間板炎の所見、28日目の画像では腰椎4/5間の椎間関節付近に脊髄硬膜外膿瘍と傍椎体膿瘍がみられた。バンコマイシンの投与が6週間となった入院54日目のところでアモキシシリンの内服に切り替え、変更後も症状の再燃はなく、髄液所見の悪化やMRI画像で膿瘍像の変化がないことを確認し、入院66日目に自宅退院となった。

  • 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年5月

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    記述言語:日本語   出版者・発行元: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

    Scopus

    PubMed

  • 平松 有, 岡本 裕嗣 .  特集 症例から学ぶミトコンドリア病 ミトコンドリア異常症に含まれる疾患群 慢性進行性外眼筋麻痺症候群(CPEO),Kearns-Sayre症候群 .  小児内科54 ( 4 ) 587 - 591   2022年4月

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    出版者・発行元:東京医学社  

    DOI: 10.24479/pm.0000000121

  • Yu Hiramatsu, Michiyoshi Yoshimura, Ryuji Saigo, Hitoshi Arata, Yuji Okamoto, Eiji Matsuura, Haruhiko Maruyama, Hiroshi Takashima .  Toxocara canis myelitis involving the lumbosacral region: a case report .  The Journal of Spinal Cord Medicine40 ( 2 ) 241 - 245   2017年3月査読

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    担当区分:筆頭著者   記述言語:英語  

  • 平松 有、矢野圭輔、湯通堂和樹、今中 大、佃屋 剛、米澤 大、植屋奈美、垣花泰之 .  抗菌薬投与中にもかかわらず,創部に遺残した異物から Clostridium tetaniが分離された破傷風の1例 .  日本集中治療医学会雑誌23 ( 2 ) 167 - 169   2016年査読

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    担当区分:筆頭著者   記述言語:日本語  

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書籍等出版物

  • ミトコンドリア病診療マニュアル2023

    ( 担当: 分担執筆)

    2023年6月 

  • ミトコンドリア病診療マニュアル2017

    ( 担当: 分担執筆 ,  範囲: CPEO/KSS)

    診断と治療社  2016年12月 

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    総ページ数:172  

MISC

  • 【脳神経内科における予防医療】神経感染症と予防医療

    平松 有, 崎山 佑介, 高嶋 博

    神経治療学   40 ( 2 )   99 - 103   2023年3月

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    記述言語:日本語   出版者・発行元:(一社)日本神経治療学会  

  • 【症例から学ぶミトコンドリア病】ミトコンドリア異常症に含まれる疾患群 慢性進行性外眼筋麻痺症候群(CPEO)、Kearns-Sayre症候群

    平松 有, 岡本 裕嗣

    小児内科   54 ( 4 )   587 - 591   2022年4月

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    記述言語:日本語   出版者・発行元:(株)東京医学社  

    <Key Points>(1)ミトコンドリア病のなかで外眼筋の麻痺による眼球運動制限を伴う疾患を慢性進行性外眼筋麻痺(CPEO)といい、そのうち、20歳以下の発症で進行性外眼筋麻痺、網膜色素変性を有し、(1)心伝導障害、(2)失調、(3)髄液蛋白の上昇(>100mg/dL)のいずれか1つを伴うものをKearns-Sayre症候群(KSS)とするのが一般的である。(2)眼瞼下垂の後に眼球運動障害をきたすことが多いが、KSSでは心合併症に注意が必要である。(3)筋生検・病理は診断においてもっとも重要な検査であり、骨格筋のmtDNAの評価も併せて行う。(4)治療については対症療法を中心に行う。(著者抄録)

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    記述言語:日本語  

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    記述言語:日本語  

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    記述言語:日本語  

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    記述言語:日本語  

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    記述言語:日本語  

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    記述言語:日本語  

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    記述言語:日本語  

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    記述言語:日本語  

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    記述言語:日本語  

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    記述言語:日本語  

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    記述言語:日本語  

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    記述言語:日本語  

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    記述言語:日本語  

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    記述言語:日本語  

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    記述言語:日本語  

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    記述言語:日本語  

  • 松浦 英治, 田代 雄一, 高畑 克徳, 安藤 匡宏, 平松 有, 野妻 智嗣, 樋口 雄二郎, 崎山 佑介, 橋口 昭大, 高嶋 博 .  HAM患者を対象としたL-アルギニンの有効性を検討する複数回(7日間連続)投与試験(特定臨床研究) .  NEUROINFECTION  2021年9月  日本神経感染症学会

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    記述言語:日本語  

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    記述言語:日本語  

  • 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年9月  (一社)日本神経学会

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    記述言語:日本語  

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