研究者詳細 - 橋詰　淳

論文 - 橋詰　淳

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球脊髄性筋萎縮症に対する自記式評価指標SBMAPROの開発査読有り

橋詰淳, 山田晋一郎, 伊藤大輔, 岸本祥之, 小森祥太, 森田光哉, 山本知孝, 勝野雅央

臨床神経学 63 巻 ( Suppl. ) 頁： S297 - S297 2023年9月

筋萎縮性側索硬化症における発症前症状の検討査読有り

小森祥太, 橋詰淳, 山田晋一郎, 伊藤大輔, 岸本祥之, 勝野雅央

臨床神経学 63 巻 ( Suppl. ) 頁： S247 - S247 2023年9月

球脊髄性筋萎縮症患者における遺伝リテラシーの調査査読有り

山田晋一郎, 橋詰淳, 伊藤大輔, 岸本祥之, 小森祥太, 勝野雅央

臨床神経学 63 巻 ( Suppl. ) 頁： S297 - S297 2023年9月

Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan 査読有り国際誌 Open Access

Mori-Yoshimura, M; Suzuki, N; Katsuno, M; Takahashi, MP; Yamashita, S; Oya, Y; Hashizume, A; Yamada, S; Nakamori, M; Izumi, R; Kato, M; Warita, H; Tateyama, M; Kuroda, H; Asada, R; Yamaguchi, T; Nishino, I; Aoki, M

ORPHANET JOURNAL OF RARE DISEASES 18 巻 ( 1 ) 頁： 241 - 241 2023年8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：Orphanet Journal of Rare Diseases

Background: A rare muscle disease, GNE myopathy is caused by mutations in the GNE gene involved in sialic acid biosynthesis. Our recent phase II/III study has indicated that oral administration of aceneuramic acid to patients slows disease progression. Methods: We conducted a phase III, randomized, placebo-controlled, double-blind, parallel-group, multicenter study. Participants were assigned to receive an extended-release formulation of aceneuramic acid (SA-ER) or placebo. Changes in muscle strength and function over 48 weeks were compared between treatment groups using change in the upper extremity composite (UEC) score from baseline to Week 48 as the primary endpoint and the investigator-assessed efficacy rate as the key secondary endpoint. For safety, adverse events, vital signs, body weight, electrocardiogram, and clinical laboratory results were monitored. Results: A total of 14 patients were enrolled and given SA-ER (n = 10) or placebo (n = 4) tablets orally. Decrease in least square mean (LSM) change in UEC score at Week 48 with SA-ER (− 0.115 kg) was numerically smaller as compared with placebo (− 2.625 kg), with LSM difference (95% confidence interval) of 2.510 (− 1.720 to 6.740) kg. In addition, efficacy was higher with SA-ER as compared with placebo. No clinically significant adverse events or other safety concerns were observed. Conclusions: The present study reproducibly showed a trend towards slowing of loss of muscle strength and function with orally administered SA-ER, indicating supplementation with sialic acid might be a promising replacement therapy for GNE myopathy. Trial registration number: ClinicalTrials.gov (NCT04671472).

DOI： 10.1186/s13023-023-02850-y

Differential target multiplexed spinal cord stimulation using a paddle-type lead placed at the appropriate site for neuropathic pain after spinal cord injury in patients with past spinal surgical histories: study protocol for an exploratory clinical trial 査読有り国際誌 Open Access

Tanei, T; Maesawa, S; Nishimura, Y; Nagashima, Y; Ishizaki, T; Ando, M; Kuwatsuka, Y; Hashizume, A; Kurasawa, S; Saito, R

TRIALS 24 巻 ( 1 ) 頁： 395 - 395 2023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：Trials

Background: Neuropathic pain after spinal cord injury (SCI), both traumatic and non-traumatic, is refractory to various treatments. Spinal cord stimulation (SCS) is one of the neuromodulation therapies for neuropathic pain, although SCS has insufficient efficacy for neuropathic pain after SCI. The reasons are presumed to be inappropriate locations of SCS leads and conventional tonic stimulation itself does not have a sufficient analgesic effect for the pain. In patients with past spinal surgical histories, the cylinder-type leads are likely to be placed on the caudal side of the SCI because of surgical adhesions. Differential target multiplexed (DTM) stimulation is one of the latest new stimulation patterns that is superior to conventional stimulation. Methods: A single-center, open-label, randomized, two-way crossover trial is planned to investigate the efficacy of SCS using DTM stimulation placing a paddle lead at the appropriate site for neuropathic pain after SCI in patients with spinal surgical histories. The paddle-type lead delivers energy more efficiently than a cylinder-type lead. This study consists of two steps: SCS trial (first step) and SCS system implantation (second step). The primary outcome is rates of achieving pain improvement with more than 33% reduction 3 months after SCS system implantation. The secondary outcomes are to be evaluated as follows: (1) effectiveness of DTM and tonic stimulations during the SCS trial; (2) changes of assessment items from 1 to 24 months; (3) relationships between the result of the SCS trial and the effects 3 months after SCS system implantation; (4) preoperative factors associated with a long-term effect, defined as continuing for more than 12 months; and (5) whether gait function improves from 1 to 24 months. Discussion: A paddle-type lead placed on the rostral side of SCI and using DTM stimulation may provide significant pain relief for patients with intractable neuropathic pain after SCI in patients with past spinal surgical histories. Trial registration: Japan Registry of Clinical Trials (jRCT) jRCT 1042220093. Registered on 21 November 2022, and last modified on 6 January 2023. jRCT is approved as a member of the Primary Registry Network of WHO ICTRP.

DOI： 10.1186/s13063-023-07433-7

Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan 査読有り国際誌 Open Access

Suzuki, N; Mori-Yoshimura, M; Katsuno, M; Takahashi, MP; Yamashita, S; Oya, Y; Hashizume, A; Yamada, S; Nakamori, M; Izumi, R; Kato, M; Warita, H; Tateyama, M; Kuroda, H; Asada, R; Yamaguchi, T; Nishino, I; Aoki, M

JOURNAL OF NEUROMUSCULAR DISEASES 10 巻 ( 4 ) 頁： 555 - 566 2023年4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：Journal of Neuromuscular Diseases

Background: GNE myopathy is an ultra-rare muscle disease characterized by a reduction in the synthesis of sialic acid derived from pathogenic variants in the GNE gene. No treatment has been established so far. Objective: We evaluated the safety and efficacy of oral supplementation of aceneuramic acid in patients with GNE myopathy. Methods: This multicenter, placebo-controlled, double-blind study comprised genetically confirmed GNE myopathy patients in Japan who were randomly assigned into treatment groups of sialic acid-extended release (SA-ER) tablets (6 g/day for 48 weeks) or placebo groups (4:1). The primary endpoint of effectiveness was set as the change in total upper limb muscle strength (upper extremity composite [UEC] score) from the start of administration to the final evaluation time point. Results: Among the 20 enrolled patients (SA-ER group, 16; placebo group, 4), 19 completed this 48-week study. The mean value of change in UEC score (95% confidence interval [CI]) at 48 weeks was -0.1 kg (-2.1 to 2.0) in the SA-ER group and -5.1 kg (-10.4 to 0.3) in the placebo group. The least squares mean difference (95% CI) between the groups in the covariance analysis was 4.8 kg (-0.3 to 9.9; P = 0.0635). The change in UEC score at 48 weeks was significantly higher in the SA-ER group compared with the placebo group (P = 0.0013) in the generalized estimating equation test repeated measurement analysis. In one patient in the SA-ER group, who was found to be pregnant 2 weeks after drug administration fetal death with tangled umbilical cord occurred at 13 weeks after the discontinuation of treatment. No other serious adverse effects were observed. Conclusions: The present study indicates that oral administration of SA-ER tablets is effective and safe in patients with GNE myopathy in Japan.

DOI： 10.3233/JND-230029

Clinical course of pathologically confirmed corticobasal degeneration and corticobasal syndrome 査読有り国際誌 Open Access

Aiba, I; Hayashi, Y; Shimohata, T; Yoshida, M; Saito, Y; Wakabayashi, K; Komori, T; Hasegawa, M; Ikeuchi, T; Tokumaru, AM; Sakurai, K; Murayama, S; Hasegawa, K; Uchihara, T; Toyoshima, Y; Saito, Y; Yabe, I; Tanikawa, S; Sugaya, K; Hayashi, K; Sano, T; Takao, M; Sakai, M; Fujimura, H; Takigawa, H; Adachi, T; Hanajima, R; Yokota, O; Miki, T; Iwasaki, Y; Kobayashi, M; Arai, N; Ohkubo, T; Yokota, T; Mori, K; Ito, M; Ishida, C; Tanaka, M; Idezuka, J; Kanazawa, M; Aoki, K; Aoki, M; Hasegawa, T; Watanabe, H; Hashizume, A; Niwa, H; Yasui, K; Ito, K; Washimi, Y; Mukai, E; Kubota, A; Toda, T; Nakashima, K

BRAIN COMMUNICATIONS 5 巻 ( 6 ) 頁： fcad296 2023年

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：Brain Communications

The clinical presentation of corticobasal degeneration is diverse, while the background pathology of corticobasal syndrome is also heterogeneous. Therefore, predicting the pathological background of corticobasal syndrome is extremely difficult. Herein, we investigated the clinical findings and course in patients with pathologically, genetically and biochemically verified corticobasal degeneration and corticobasal syndrome with background pathology to determine findings suggestive of background disorder. Thirty-Two patients were identified as having corticobasal degeneration. The median intervals from the initial symptoms to the onset of key milestones were as follows: gait disturbance, 0.0 year; behavioural changes, 1.0 year; falls, 2.0 years; cognitive impairment, 2.0 years; speech impairment, 2.5 years; supranuclear gaze palsy, 3.0 years; urinary incontinence, 3.0 years; and dysphagia, 5.0 years. The median survival time was 7.0 years; 50% of corticobasal degeneration was diagnosed as corticobasal degeneration/corticobasal syndrome at the final presentation. Background pathologies of corticobasal syndrome (n = 48) included corticobasal degeneration (33.3%), progressive supranuclear palsy (29.2%) and Alzheimer's disease (12.5%). The common course of corticobasal syndrome was initial gait disturbance and early fall. In addition, corticobasal degeneration-corticobasal syndrome manifested behavioural change (2.5 years) and cognitive impairment (3.0 years), as the patient with progressive supranuclear palsy-corticobasal syndrome developed speech impairment (1.0 years) and supranuclear gaze palsy (6.0 years). The Alzheimer's disease-corticobasal syndrome patients showed cognitive impairment (1.0 years). The frequency of frozen gait at onset was higher in the corticobasal degeneration-corticobasal syndrome group than in the progressive supranuclear palsy-corticobasal syndrome group [P = 0.005, odds ratio (95% confidence interval): 31.67 (1.46-685.34)]. Dysarthria at presentation was higher in progressive supranuclear palsy-corticobasal syndrome than in corticobasal degeneration-corticobasal syndrome [P = 0.047, 6.75 (1.16-39.20)]. Pyramidal sign at presentation and personality change during the entire course were higher in Alzheimer's disease-corticobasal syndrome than in progressive supranuclear palsy-corticobasal syndrome [P = 0.011, 27.44 (1.25-601.61), and P = 0.013, 40.00 (1.98-807.14), respectively]. In corticobasal syndrome, decision tree analysis revealed that 'freezing at onset' or 'no dysarthria at presentation and age at onset under 66 years in the case without freezing at onset' predicted corticobasal degeneration pathology with a sensitivity of 81.3% and specificity of 84.4%. 'Dysarthria at presentation and age at onset over 61 years' suggested progressive supranuclear palsy pathology, and 'pyramidal sign at presentation and personality change during the entire course' implied Alzheimer's disease pathology. In conclusion, frozen gait at onset, dysarthria, personality change and pyramidal signs may be useful clinical signs for predicting background pathologies in corticobasal syndrome.

DOI： 10.1093/braincomms/fcad296

神経変性疾患と予防医療査読有り

勝野雅央, 橋詰淳

神経治療学 40 巻 ( 2 ) 頁： 74 - 78 2023年

未来を創るデータの作り方　司会の言葉査読有り

橋詰淳, 三澤園子

神経治療学 40 巻 ( 4 ) 頁： 441 - 441 2023年

オーバービュー　（臨床研究教育学の立場から）査読有り

橋詰淳

日本臨床薬理学会学術総会抄録集 44 巻 ( 0 ) 頁： 3-C-S35-1 2023年

記述言語：日本語掲載種別：研究論文（学術雑誌）出版者・発行元：一般社団法人日本臨床薬理学会

<p>新薬研究開発の国際競争力の低下などに対応して、本邦でも、創薬シーズを製薬企業のみならずアカデミアにも求める気運が高まってきた。「有効な医薬品を創り、患者さんに届ける」ことは医療人共通の願いでもあり、その気運にのり、アカデミアでの創薬は推進されてきたといえる。しかし、2014年度には20件あった医師主導治験の初回治験届け出数は、2019年度～2021年度には平均で9件を割り込んでおり、アカデミア発の創薬が活性化しているとは推定しにくい。一般に、創薬研究プロセスは、生体分子の新しい機能や病態における役割などの情報から創薬標的を同定する基礎研究と、同定した創薬標的に適切に作用する物質を開発化合物にまで最適化する応用研究に分類されるが、「アカデミア創薬」では、この基礎研究から応用研究まで、また可能であればその後の臨床開発も加え、一貫してアカデミア研究者が実施することになる。アカデミア基礎研究者の中には、自身の画期的な基礎的発見が、ただちに有望な創薬シーズとなるものと考えたが、その時に、創薬のためには不足する情報がたくさんあることを初めて知り、そのことこそ「死の谷（The Valley of Death）」というのだと思ってしまった研究者も多いものと想像される。医薬品開発は、新規薬剤の発見と合成、新規物質の有効性と安全性の研究に始まり、各種非臨床・臨床試験の計画・実施・解析、製造販売承認申請準備・申請、と多種多様で長い道のりである。本邦のアカデミア発医薬品開発を活性化するためには、これらの道程を一人で完全走破するアントレプレナーを育てることも重要ではあるが、医学研究者個々の研究リテラシー向上なく、スーパーアントレプレナーを育てるだけでは、全体としての医薬品開発力向上を見込むことは難しい。少なくとも、創薬研究に関わるすべての医学研究者が、医薬品開発の全景やその困難さを理解したうえで、自らの研究の、「医薬品開発の上での位置付け」を十分に理解し、その開発を遂行するために不足するmissing pieceを埋めるパートナーとうまく協業を進めていく術を知ることが、今後長い目で見た際に、アカデミア発の創薬を育てるために重要ではないかと考えられる。</p>

DOI： 10.50993/jsptsuppl.44.0_3-c-s35-1

CiNii Research

PMDAでの経験とその後　アカデミアでの倫理指針下研究支援査読有り

橋詰淳

神経治療学 40 巻 ( 6 ) 頁： S149 - S149 2023年

The Japan Registry for Adult Subjects of Spinal Muscular Atrophy (jREACT-SMA): Protocol for a Longitudinal Observational Study 査読有り国際誌 Open Access

Sahashi, K; Hashizume, A; Kuwatsuka, Y; Chinen, M; Saotome-Nakamura, A; Ando, M; Katsuno, M

JMIR RESEARCH PROTOCOLS 11 巻 ( 12 ) 頁： e38878 2022年12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：JMIR Research Protocols

Background: Spinal muscular atrophy (SMA) is an autosomal recessive genetic neuromuscular disorder with progressive muscle weakness and atrophy, mainly caused by lower motor neuron degeneration resulting from decreased levels of the survival motor neuron protein. Recently, 3 disease-modifying therapies for SMA (nusinersen, onasemnogene abeparvovec, and risdiplam) were approved in Japan that are expected to improve the prognosis of patients with SMA. Long-term clinical follow-up of adult patients treated with disease-modifying therapies and the natural history of SMA are essential to assess the real-world effectiveness of available treatments. Until recently, nusinersen was the only treatment option for patients with SMA in Japan; however, because Japanese approval of nusinersen was based on global clinical trials in infants and children aged 0-15 years with SMA, the effectiveness of nusinersen in adult patients has not been fully assessed in Japan. In addition, longitudinal clinical data of adult patients have not been systematically collected in Japan. Objective: This longitudinal observational study of adult patients with SMA who have been diagnosed with 5q-SMA in Japan aims to gain a better understanding of the natural history of SMA, as well as the long-term effectiveness of disease-modifying therapies. Here, we describe the protocol for the study. Methods: The Japan Registry for Adult Subjects of Spinal Muscular Atrophy (jREACT-SMA) study is a longitudinal (prospective and retrospective) observational study with a 60-month prospective follow-up being conducted at 19 investigational sites using the newly established jREACT-SMA registry. Patients aged ≥18 years with genetically confirmed 5q-SMA were planned to be enrolled in the registry from December 2020 to May 2022. The planned enrollment was 100 patients. The protocol was approved on September 28, 2020 (approval 2020-0289) by the ethical review committee of Nagoya University. Registration, demographics, genetic diagnosis, motor functions, patient-reported outcomes/quality-of-life outcomes, and other clinical data have been or will be collected. Results: As of May 2022, 113 patients had been enrolled, and the completion of patient registration has been extended from May 2022 to December 2022. Data at registration and during the follow-up period were and will be prospectively collected at least once a year until November 2025 (maximum 60 months). Data analyses will be conducted when all data have been collected. Results are expected to be available in 2026 and the study is expected to be completed by March 2027. Conclusions: This jREACT-SMA study will provide longitudinal prospective follow-up data in adult patients with SMA in Japan, including data on the natural history of the disease and data on the long-term effectiveness of disease-modifying therapies. Trial Registration: University Hospital Medical Information Network Center Clinical Trials Registry UMIN000042015; https://rctportal.niph.go.jp/en/detail?trial_id=UMIN000042015 International Registered Report Identifier (IRRID): DERR1-10.2196/38878

DOI： 10.2196/38878

【遺伝性神経・筋疾患-診療と研究の最前線】その他の神経・筋疾患の病態・診断・治療法開発球脊髄性筋萎縮症査読有り

橋詰淳, 佐橋健太郎, 勝野雅央

医学のあゆみ 283 巻 ( 10 ) 頁： 1032 - 1037 2022年12月

記述言語：日本語掲載種別：研究論文（学術雑誌）出版者・発行元：医歯薬出版(株)

球脊髄性筋萎縮症(SBMA)は,X染色体に存在するアンドロゲン受容体遺伝子上のCAG繰返し配列数の異常伸長を原因とするポリグルタミン病である.緩徐進行性の筋萎縮,筋力低下を特徴とする神経筋疾患であり,成人男性に発症する.下位運動ニューロン徴候を主体とするが,体毛の減少,皮膚の女性化,睾丸萎縮などのアンドロゲン不全症状,深部覚異常なども合併することが特徴的である.筋力低下発現の前に,手指振戦や筋クランプを高頻度に認めるが,血液検査においても血清クレアチニン値の低下や血清CK値の上昇を認め,診断の契機となる.通常,無症状と考えられる女性保因者においても極軽度の臨床所見と神経原性変化の存在を疑う検査所見が認められており,SBMAの早期病態の解明に寄与する可能性がある.わが国では2017年に抗アンドロゲン療法(リュープロレリン酢酸塩)が承認を取得しており,現在,実臨床下での有効性・安全性を検討する臨床研究が継続中である.(著者抄録)

その他リンク： https://search.jamas.or.jp/default/link?pub_year=2022&ichushi_jid=J00060&link_issn=&doc_id=20221206010019&doc_link_id=issn%3D0039-2359%26volume%3D283%26issue%3D10%26spage%3D1032&url=http%3A%2F%2Fwww.pieronline.jp%2Fopenurl%3Fissn%3D0039-2359%26volume%3D283%26issue%3D10%26spage%3D1032&type=PierOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00005_2.gif

Mexiletine in spinal and bulbar muscular atrophy: a randomized controlled trial 査読有り国際誌 Open Access

Yamada, S; Hashizume, A; Hijikata, Y; Inagaki, T; Ito, D; Kishimoto, Y; Kinoshita, F; Hirakawa, A; Shimizu, S; Nakamura, T; Katsuno, M

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY 9 巻 ( 11 ) 頁： 1702 - 1714 2022年11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：Annals of Clinical and Translational Neurology

Objective: Patients with spinal and bulbar muscular atrophy (SBMA) often experience muscular weakness under cold exposure. Methods: In our previously conducted observational study, we assessed nerve conduction and grip strength to examine the effect of cold exposure on motor function, based on which we conducted a randomized controlled trial to evaluate the efficacy and safety of mexiletine hydrochloride in SBMA (MEXPRESS). Results: In the observational study, 51 consecutive patients with SBMA and 18 healthy controls (HCs) were enrolled. Of the patients with SBMA, 88.0% experienced cold paresis. Patients with SBMA exhibited greater prolongation of ulnar nerve distal latency under cold (SBMA, 5.6 ± 1.1 msec; HC, 4.3 ± 0.6 msec; p <0.001); the change in the distal latencies between room temperature and cold exposure conditions correlated with the change in grip power. In the MEXPRESS trial, 20 participants took mexiletine or lactose, three times a day for 4 weeks with a crossover design. There was no difference in distal latencies at room temperature and under cold exposure between mexiletine and placebo groups as the primary endpoint. However, tongue pressure and 10-sec grip and release test under cold exposure were improved in the mexiletine group. There were no serious adverse events throughout the study period. Interpretation: Cold paresis is common and associated with prolongation of distal latency in SBMA. The results of the phase II clinical trial revealed that mexiletine showed short-term safety, but it did not restore cold exposure-induced prolongation of distal latency.

DOI： 10.1002/acn3.51667

脳神経内科領域における医学教育の展望 Post/withコロナ時代を見据えて(Vol.15) 大学間連携によるオンライン臨床実習の試み査読有り

吉倉延亮, 原一洋, 橋詰淳, 坪井崇, 下畑享良, 勝野雅央

BRAIN and NERVE: 神経研究の進歩 74 巻 ( 11 ) 頁： 1309 - 1312 2022年11月

記述言語：日本語掲載種別：研究論文（学術雑誌）出版者・発行元：(株)医学書院

＜文献概要＞COVID-19パンデミックは人類と社会に大きなインパクトを与えたが,パンデミック前と比べた最も大きな変化の1つが,オンライン会議システムの普及と活用である。その影響を受けているのは医学も例外ではなく,オンライン診療と並んでオンライン教育の試みも進んでいる。本稿では,東海国立大学機構(名古屋大学と岐阜大学)における脳神経内科領域の合同オンライン臨床実習の試みを紹介する。

Development of a functional composite for the evaluation of spinal and bulbar muscular atrophy 査読有り国際誌 Open Access

Inagaki, T; Hashizume, A; Hijikata, Y; Yamada, S; Ito, D; Kishimoto, Y; Torii, R; Sato, H; Hirakawa, A; Katsuno, M

SCIENTIFIC REPORTS 12 巻 ( 1 ) 頁： 17443 - 17443 2022年10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：Scientific Reports

This study aimed to develop a functional measurement that combines quantitative motor evaluation index of various body regions in patients with spinal and bulbar muscular atrophy (SBMA). We assessed subjects with SBMA and healthy controls with quantitative muscle strength measurements and functional scales. We selected tongue pressure, grip power, % peak expiratory flow (%PEF), timed walking test, and % forced vital capacity (%FVC) as components. By combining these values with Z-score, we created a functional composite (SBMA functional composite: SBMAFC). We also calculated the standardized response mean to compare the sensitivity of SBMAFC with that of existing measurements. A total of 97 genetically confirmed patients with SBMA and 36 age- and sex-matched healthy controls were enrolled. In the longitudinal analysis, the standardized response mean of SBMAFC was larger than that of existing rating scales. Receiver operating characteristic (ROC) analysis demonstrated that the SBMAFC is capable of distinguishing between subjects with early-stage SBMA and healthy controls. SBMAFC is more sensitive to disease progression than existing functional rating scales and is a potential outcome measure in clinical trials of SBMA.

DOI： 10.1038/s41598-022-22322-w

球脊髄性筋萎縮症に対する定量的複合指標SBMAFCの開発査読有り

橋詰淳, 山田晋一郎, 伊藤大輔, 岸本祥之, 鳥居良太, 山本知孝, 森田光哉, 勝野雅央

臨床神経学 62 巻 ( Suppl. ) 頁： S308 - S308 2022年10月

球脊髄性筋萎縮症の女性保因者と発症早期の男性患者における臨床的特徴に関する検討査読有り

鳥居良太, 橋詰淳, 山田晋一郎, 伊藤大輔, 岸本祥之, 勝野雅央

臨床神経学 62 巻 ( Suppl. ) 頁： S309 - S309 2022年10月

Clinical Features of Female Carriers and Prodromal Male Patients With Spinal and Bulbar Muscular Atrophy 査読有り国際誌

Torii, R; Hashizume, A; Yamada, S; Ito, D; Kishimoto, Y; Moriyoshi, H; Inagaki, T; Nakamura, R; Nakamura, T; Naoi, T; Morita, M; Katsuno, M

NEUROLOGY 100 巻 ( 1 ) 頁： e84-e93 - E93 2022年9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：Neurology

Background and ObjectivesTo assess the clinical and electrophysiologic features of female carriers and early-stage male patients with spinal and bulbar muscular atrophy (SBMA) to elucidate the early pathophysiologic changes of the disease.MethodsFemale carriers, early-stage male patients with SBMA, and age-matched male and female healthy controls were recruited. The results of motor functional scales, motor unit number estimation, dual-energy X-ray absorptiometry, and peripheral blood tests were compared between female carriers and healthy female controls and between patients with SBMA and healthy male controls. EMG was also investigated in female carriers.ResultsWe enrolled 21 female carriers and 11 early-stage male patients. Seventeen female and 14 male age-matched healthy controls were also enrolled. Female carriers experienced early-stage symptoms such as muscle cramps more frequently than healthy female controls. Decreased motor unit number estimation and EMG abnormalities including high amplitude or polyphasic potentials were observed in female carriers together with mild muscle weakness in neck flexion and a slow walking speed. Changes of muscle-related markers, including serum creatine kinase and dual-energy X-ray absorptiometry, were clearly detected in early-stage male patients with SBMA, but not in female carriers.DiscussionThe present study revealed that female carriers of SBMA manifest mild muscular weakness associated with changes in neurogenic biomarkers. Conversely, male patients showed neurogenic and myopathic changes even at the early stage. These results suggest a testosterone-independent neurodegenerative pathophysiology in female SBMA carriers.

DOI： 10.1212/WNL.0000000000201342

Web of Science

Scopus

PubMed

【神経疾患とゲノム医療】個別病態・疾患のゲノム医療球脊髄性筋萎縮症査読有り

橋詰淳, 佐橋健太郎, 蛭薙智紀, 勝野雅央

Clinical Neuroscience 40 巻 ( 9 ) 頁： 1143 - 1146 2022年9月

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