Academic Assembly School of Medicine and Health Sciences Institute of Medicine

School of Medicine Department of Medicine 



  • Doctor of Medicine, 信州大学

Field Of Study

  • Neurology, Neurology

Educational Background

  • 1998, Shinshu University, Graduate School, Division of Medicine
  • 1991, Shinshu University, Faculty of Medicine


  • 遺伝性神経疾患と遺伝カウンセリング-overview-
    日本遺伝カウンセリング学会誌, 44(181), 188-188, 2023
  • ニューロパチー診療の進歩 -核酸医薬を中心に-
    日本内科学会雑誌, 112(9), 1654-1661, 2023
  • 脳神経内科領域における開発途上の薬剤
    BRAIN and NERVE, 75(5), 427-432, 2023
  • 遺伝性ATTRアミロイドーシス(トランスサイレチン型家族性アミロイドポリニューロパチー)
    CLINICAL NEUROSCIENCE, 41(5), 720-724, 2023
  • 多彩な臨床像を呈したduropathyの58歳男性剖検例
    信州医学雑誌, 71(2), 127-130, 2023
  • 脳腱黄色腫症の早期治療のために
    脳と発達, 55(1), 12-17, 2023
  • Cervical myelopathy due to amyloid deposition with accompanying cardiac abnormalities
    Uehara M, Kuraishi S, Ikegami S, Oba H, Takizawa T, Munakata R , Hatakenaka T, Kamanaka T, Miyaoka Y, Sekijima Y, Takahashi J
    J Spinal Cord Med, 46(4), 697-701, 2023, Refereed電子ジャーナル
  • Distribution and progression of cerebral amyloid angiopathy in early-onset V30M (p.V50M) hereditary ATTR amyloidosis
    Takahashi Y, Oguchi K, Mochizuki Y, Takasone K, Ezawa N, Matsushima A, Katoh N, Yazaki M, Sekijima Y
    Amyloid, 30(1), 109-118, 2023, Refereed電子ジャーナル
  • Anterior horn damage in brachial multisegmental amyotrophy with superficial siderosis and dural tear: an autopsy case report
    Takahashi Y, Kodaira M, Yamada M, Uehara K, Ito K, Kaneko T, Ohashi H, Yazaki M, Sekijima Y
    BMC Neurology, 23(1), 129-129, 2023, Refereed電子ジャーナル
  • Tongue Hemiatrophy in Multifocal Motor Neuropathy
    Tajiri M, Kodaira M, Nakamura K, Sekijima Y
    62(18), 2759-2760, 2023, Refereed電子ジャーナル
  • Hypertrophic pachymeningitis in ANCA-associated vasculitis: Clinical and immunopathological features and insights
    Shimojima Y, Sekijima Y
    Autoimmun Rev, 22(6), 103338-103338, 2023, Refereed電子ジャーナル
  • Features of BAFF and APRIL receptors on circulating B cells in antineutrophil cytoplasmic antibody-associated vasculitis
    Shimojima Y, Kishida D, Ichikawa T, Takamatsu R, Nomura S, Sekijima Y
    Clin Exp Immunol, 213(1), 125--137, 2023, Refereed電子ジャーナル
  • Neurofilament light chain as a biomarker for monitoring response to change in treatment in hereditary ATTR amyloidosis
    Sato M, Mochizuki Y, Takahashi Y, Takasone K, Aldinc E, Ticau S, Jia G, Sekijima Y
    Amyloid, 30(3), 351-352, 2023, Refereed電子ジャーナル
  • Reduction of cardiac AL amyloid deposition after complete response visualised by PiB-PET imaging
    Oguchi K, Katoh N, Mochizuki Y, Takahashi Y, Ueno A, Takasone K, Sekijima Y
    Amyloid, 30(1), 138-139, 2023, Refereed電子ジャーナル
  • Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1A
    Nakamura K, Yoshinaga T, Kodaira M, Kise E, Kosho T, Sekijima Y
    Intern Med, 62(20), 3047-3051, 2023, Refereed電子ジャーナル
  • Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease
    Nakamura K, Mukai S, Takezawa Y, Natori Y, Miyazaki A, Ide Y, Takebuchi M, Nanato K, Katoh M, Suzuki H, Sakyu A, Kojima T, Kise E, Hanafusa H, Kosho T, Kuwahara K, Sekijima Y
    Mol Genet Metab Rep, 36, 100983-100983, 2023, Refereed
  • Steep increase in the number of transthyretin-positive cardiac biopsy cases in Japan: evidence obtained by the nation-wide pathology consultation for the typing diagnosis of amyloidosis
    Naiki H, Yamaguchi A, Sekijima Y, Ueda M, Ohashi K, Hatakeyama K, Ikeda Y, Hoshii Y, Shintani-Domoto Y, Miyagawa-Hayashino A, Tsujikawa H, Endo J, Arai T, Ando Y
    Amyloid, 30(3), 321-326, 2023, Refereed電子ジャーナル
  • Treatment response to Tafamidis quantitatively assessed by serial bone scintigraphy in transthyretin amyloid cardiomyopathy
    Maeda-Ogata S, Tahara N, Tahara A, Bekki M, Honda A, Sugiyama Y, Igata S, Abe T, Sekijima Y, Ueda M, Ando Y, Fukumoto Y
    J Nucl Cardiol, 30(1), 403-404, 2023, Refereed電子ジャーナル
  • Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1
    Kondo Y, Yoshinaga T, Nakamura K, Yamaguchi T, Ishikawa M, Kosho T, Sekijima Y
    Neurol Genet, 9(1), e200047-e200047, 2023, Refereed電子ジャーナル
  • Lung Lobectomy Is an Embolic Risk Factor for Cerebral Infarction, Even in the Long-term Postoperative Phase
    Kobayashi Y, Kondo Y, Yamamoto K, Sekijima Y
    Intern Med, 62(22), 3401-3404, 2023, Refereed
  • Ocular findings in patients with acquired ATTRv amyloidosis following domino liver transplantation
    Kitahara J, Yoshinaga T, Kakihara S, Hirano T,  Imai A, Miyahara T, Yazaki M, Sekijima Y, Murata T
    PLoS One, 18(9), e0291716-e0291716, 2023, Refereed電子ジャーナル
  • "Quantitative evaluation of the thickened dura mater impacting clinical signs in immune-mediated hypertrophic pachymeningitis"
    Ikeda J, Shimojima Y, Yamada A, Sekijima Y
    J Neurol Sci, 453, 120780-120780, 2023, Refereed電子ジャーナル
  • Impact of online health information-seeking behavior on shared decision-making in patients with systemic lupus erythematosus: The TRUMP2-SLE project
    Ichikawa T, Kishida D, Shimojima Y, Yajima N, Oguro N, Yoshimi R, Sakurai N, Hidekawa C, Sada KE, Miyawaki Y, Hayashi K, Shidahara K, Ishikawa Y, Sekijima Y, Kurita N
    Lupus, 32(11), 1258-1266, 2023, Refereed電子ジャーナル
  • Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman
    Hanafusa H, Nakamura K, Kamijo Y, Kitahara M, Ehara T, Yoshinaga T, Aoki K, Katoh N, Yamaguchi T, Kosho T, Sekijima Y
    JIMD Rep, 64(6), 410-416, 2023電子ジャーナル
  • A retrospective analysis of clinical features and treatment outcome in 21 patients with immunoglobulin M-related light-chain amyloidosis in Japan: a study from the Amyloidosis Research Committee
    Fuchida S, Ogura M, Ishida T, Hata H, Handa H, Katoh N, Nakaseko C, Sunami  K, Katayama Y, Nobata H, Oshiro K, Iida S, Sekijima Y, Naiki H, Shimazaki C
    Int J Hematol, 118(4), 443-449, 2023電子ジャーナル
  • Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial
    Adams D, Tournev IL , Taylor MS , Coelho T, Planté-Bordeneuve V, Berk JL ,González-Duarte  A, Gillmore JD ,  Low SC, Sekijima Y ,Obici  L, Chen C, Badri P, Arum SM , Vest J , Polydefkis M ; HELIOS-A Collaborators
    Amyloid, 30(1), 1-9, 2023, Refereed電子ジャーナル
  • Therapeutic Outcome of Lenalidomide-dexamethasone in Patients with Relapsed or Refractory Systemic Immunoglobulin Light Chain (AL) Amyloidosis : A Single-center Analysis and Review of the Literature
    Ueno Akihiro, Katoh Nagaaki, Ezawa Naoki, Yoshinaga Tsuneaki, Yazaki Masahide, Sekijima Yoshiki
    The Shinshu Medical Journal, 70(1), 29-38, Feb. 2022リポジトリ電子ジャーナル
  • Searching for the Frequency of Cardiac Transthyretin Amyloidosis among Elderly Heart Failure Patients Noninvasively Using 99mTc-labeled Pyrophosphate Scintigraphy
    Miura Takashi, Okina Yoshiteru, Mochidome Tomoaki, Kobayashi Takahiro, Kasai Toshio, Ikeda Uichi, Ezawa Naoki, Sekijima Yoshiki, Kuwahara Koichiro
    The Shinshu Medical Journal, 69(1), 37-44, 10 Feb. 2021リポジトリ電子ジャーナル
  • Dialysis-related amyloidosis associated with a novel β2-microglobulin variant
    Mizuno H, Hoshino J, So M, Kogure Y, Fujii T, Ubara Y, Takaichi K, Nakaniwa T, Tanaka H, Kurisu G, Kametani F, Nakagawa M, Yoshinaga T, Sekijima Y, Higuchi K, Goto Y, Yazaki M
    Amyloid, 28(1), 42-49, 2021, Refereed電子ジャーナル
  • Development of diagnostic antibodies against immunoglobulin heavy chain variable region for heavy chain amyloidosis (AH amyloidosis)
    Nakagawa M, Yazaki M, Kametani F, Katoh N, Yoshinaga T, Higuchi K, Sekijima Y
    Pathol Int, 71(4), 245-254, 2021, Refereed電子ジャーナル
  • Giant hepatomegaly with spleno-testicular enlargement in a patient with apolipoprotein A-I amyloidosis: an uncommon type of amyloidosis in Japan.
    Yoshinaga T, Katoh N, Yazaki M, Sato M, Kametani F, Yasuda H, Watanabe K, Kawata K, Nakagawa M, Sekijima Y
    Intern Med, 60(4), 575-581, 2021, Refereed電子ジャーナル
  • Spread of vimentin-immunoreactive cells within the plaque-like lesion in the spinal anterior horn of a patient with post-poliomyelitis syndrome
    Hineno A, Oyanagi K, Yoshida T, Sakai Y, Kanno H, Sekijima Y
    Neuropathology, 41(5), 406-411, 2021, Refereed電子ジャーナル
  • Quantitative Analysis of Endocardial and Epicardial Left Ventricular Myocardial Deformation in Patients with Cardiac Amyloidosis
    Kozuka, Ayako; Koyama, Jun; Sekijima, Yoshiki; Ikeda, Uichi
    信州医学雑誌, 67(1), 49-62, 10 Feb. 2019リポジトリ
  • Pathological, biochemical, and biophysical characteristics of the transthyretin variant Y114H (p.Y134H) explain its very mild clinical phenotype
    Sekijima Y, Campos RI, Hammarström P, Nilsson KP, Yoshinaga T, Nagamatsu K, Yazaki M, Kametani F, Ikeda S
    J Peripher Nerv Syst, 20, 372-379, 2015, Refereed
  • Safety and efficacy of long-term diflunisal administration in hereditary transthyretin (ATTR) amyloidosis
    Sekijima Y, Tojo K, Morita H, Koyama J, Ikeda S
    Amyloid, 22, 79-83, 2015, Refereed
  • Transthyretin-type cerebral amyloid angiopathy: a serious complication in post-transplant patients with familial amyloid polyneuropathy
    Sekijima Y
    J Neurol Neurosurg Psychiatry, 86, 124, 2015, Refereed
  • Taransthyretin( ATTR)amyloidosis:clinical spectrum, molecular pathogenesis and disease-modifying treatments
    Sekijima Y
    J Neurol Neurosurg Psychiatry, 86, 1036-1043, 2015, Refereed
  • p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males
    Nakamura, K; Sekijima, Y; Nakamura, K; Hattori, K; Nagamatsu, K; Shimizu, Y; Yazaki, M; Sakurai, A; Endo, F; Fukushima, Y; Ikeda, SI
    EUROPEAN JOURNAL OF NEUROLOGY, 21(1), 49-56, 2014, RefereedWebofScienceリポジトリ電子ジャーナル
  • Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene
    Sekijima, Y; Nakamura, K; Kishida, D; Narita, A; Adachi, K; Ohno, K; Nanba, E; Ikeda, S
    INTERNAL MEDICINE, 52(1), 119-124, 2013, RefereedWebofScienceリポジトリ電子ジャーナル
  • Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
    Tanaka, K; Sekijima, Y; Yoshida, K; Tamai, M; Kosho, T; Sakurai, A; Wakui, K; Ikeda, S; Fukushima, Y
    JOURNAL OF HUMAN GENETICS, 58(8), 560-563, 2013, RefereedWebofScienceリポジトリ電子ジャーナル
  • A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea
    Nakamura K, Sekijima Y, Nagamatsu K, Yoshida K, Ikeda SI
    J Neurol Sci, 313(1-2), 189-192, 2012, RefereedWebofScienceリポジトリ電子ジャーナル
  • Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation
    Nakamura A, Hineno A, Yoshikda K, Sekijima Y, Hanaoka-Tachibana N, Takei Y, Ohara S, Ikeda SI
    Amyotroph Lateral Scler, 13, 479-486, 2012, RefereedWebofScienceリポジトリ電子ジャーナル
  • High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly
    Sekijima Y, Uchiyama S, Tojo K, Sano K, Shimizu Y, Imaeda T, Hoshii Y, Kato H, Ikeda SI
    Hum Pathol, 42(11), 1785-1795, 2011, RefereedWebofScienceリポジトリ電子ジャーナル
  • Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy
    Tojo, Kana; Tsuchiya-Suzuki, Ayako; Sekijima, Yoshiki; Morita, Hiroshi; Sumita, Naoko; Ikeda, Shu-Ichi
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 17(1), 32-35, May 2010, RefereedWebofScienceリポジトリ電子ジャーナル
  • Cerebral hemorrhage in Fabry's disease
    Nakamura, Katsuya; Sekijima, Yoshiki; Nakamura, Kimitoshi; Hattori, Kiyoko; Nagamatsu, Kiyoshiro; Shimizu, Yusaku; Yasude, Takuji; Ushiyama, Masao; Endo, Fumio; Fukushima, Yoshimitsu; Ikeda, Shu-ichi
    JOURNAL OF HUMAN GENETICS, 55(4), 259-261, Apr. 2010, RefereedWebofScienceリポジトリ電子ジャーナル
  • Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy: distribution and excretion of imiglucerase in human milk
    Sekijima Y, Ohashi T, Ohira S, Kosho T, Fukushima Y
    Clin Ther, 32(12), 2048-2052, 2010, RefereedWebofScienceリポジトリ電子ジャーナル
  • CPPD crystal deposition disease of the cervical spine: A common cause of acute neck pain encountered in the neurology department
    Sekijima Y, Yoshida T, Ikeda SI
    J Neurol Sci, 296(1-2), 79-82, 2010, RefereedWebofScienceリポジトリ電子ジャーナル
  • 蛋白質ミスフォールディング病の発症機序と治療戦略
    信州医学雑誌, 56(3), 115-124, 2008リポジトリ電子ジャーナル
  • Benign intracranial hypertension and leukoencephalopathy due to venous sinus stenosis in an SLE patient
    Yasude, T; Sekijima, Y; Mitsuhashi, S; Gono, T; Matsuda, M; Ikeda, S
    Lupus, 16(10), 839-840, 2007, RefereedWebofScienceリポジトリ電子ジャーナル
  • アルツハイマー病 原因と危険因子
    からだの科学, 218, 41-47, 2001
  • Serum transthyretin monomer in patients with familial amyloid polyneuropathy
    Sekijima, Y; Tokuda, T; Kametani, F; Tanaka, K; Maruyama, K; Ikeda, S
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 8(4), 257-262, 2001, RefereedWebofScience
  • Three patients with isolated adrenocorticotropin deficiency presenting with neuroleptic malignant syndrome-like symptoms
    Sekijima, Y; Hoshi, K; Kasai, H; Okada, M; Namiki, S; Ohta, K; Nakano, T; Hirayama, J; Ikeda, S
    INTERNAL MEDICINE, 40(6), 510-514, 2001, RefereedWebofScience
  • Amyloid beta protein species in cerebrospinal fluid and in brain from patients with Down's syndrome
    Tamaoka, A; Sekijima, Y; Masuno, S; Tokuda, T; Shoji, S; Ikeda, SI
    ANNALS OF NEUROLOGY, 46(6), 933-933, 1999, RefereedWebofScience
  • Presenilin-1 exists in the axoplasm fraction in the brains of aged Down's syndrome subjects and non-demented individuals
    Sekijima, Y; Kametani, F; Tanaka, K; Okochi, M; Usami, M; Mori, H; Tokuda, T; Ikeda, S
    NEUROSCIENCE LETTERS, 267(2), 121-124, 1999, RefereedWebofScience
  • Sleep apnoea of central origin in a case of myotonic dystrophy
    Sekijima, Y; Morita, H; Hashimoto, T; Yamazaki, M; Yanagisawa, N
    JOURNAL OF CLINICAL NEUROSCIENCE, 5(1), 112-115, 1998, RefereedWebofScience電子ジャーナル
  • Prevalence of dementia of Alzheimer type and apolipoprotein E phenotypes in aged patients with Down's syndrome
    Sekijima, Y; Ikeda, S; Tokuda, T; Satoh, S; Hidaka, H; Hidaka, E; Ishikawa, M; Yanagisawa, N
    EUROPEAN NEUROLOGY, 39(4), 234-237, 1998, RefereedWebofScience電子ジャーナル
  • Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): Clinical and neuropathological features of a Japanese family
    Sekijima, Y; Ohara, S; Nakagawa, S; Tabata, K; Yoshida, K; Ishigame, H; Shimizu, Y; Yanagisawa, N
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 158(1), 30-37, 1998, RefereedWebofScience電子ジャーナル
  • Serial magnetic resonance imaging (MRI) study of a patient with Balo's concentric sclerosis treated with immunoadsorption plasmapheresis
    Y. Sekijima, T. Tokuda T, T. Hashimoto 他3名
    Mult. Scler, 2, 291-294, 1997, Refereed
  • Follow-up of sarin poisoning in Matsumoto
    Sekijima, Y; Morita, H; Yanagisawa, N
    ANNALS OF INTERNAL MEDICINE, 127(11), 1042-1042, 1997, RefereedWebofScience
  • 全身性アミロイドーシスからアルツハイマー病へのimplication
    週刊医学のあゆみ, (13), 1039-1046
  • Characterising diflunisal as a transthyretin kinetic stabilizer at relevant concentrations in human plasma using subunit exchange
    Tsai FJ, Nelson LT, Kline GM, Jäger  M, Berk JL , Sekijima Y , Powers ET , Kelly JW
    Amyloid, 30(2), 220-224, Refereed電子ジャーナル
  • Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis.
    Maurer MS, Kale P, Fontana M, Berk JL, Grogan M, Gustafsson F, Hung RR, Gottlieb RL, Damy T, González-Duarte A, Sarswat N, Sekijima Y, Tahara N, Taylor MS, Kubanek M, Donal E, Palecek T, Tsujita K, Tang WHW, Yu WC, Obici L, Simões M, Fernandes F, Poulsen SH, Diemberger I, Perfetto F, Solomon SD, Di Carli M, Badri P, White MT, Chen J, Yureneva E, Sweetser MT, Jay PY, Garg PP, Vest J, Gillmore JD; APOLLO-B Trial Investigators
    N Engl J Med, 389(17), 1553-1565, Refereed電子ジャーナル
  • Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal
    Ando Y, Waddington-Cruz M, Sekijima Y, Koike H, Ueda M, Konishi H, Ishii T, Coelho T.
    Orphanet J Rare Dis, 18(1), 323-323, Refereed電子ジャーナル

Books and other publications

  • アミロイドーシス
    総合医学社,東京, 261-266 2023

Lectures, oral presentations, etc.

  • 遺伝性認知症を対象としたトライアルレディコホート(HED-TEC)
    第42回日本認知症学会学術集会, 25 Nov. 2023, 池田 学(大阪大学大学院医学系研究科精神医学教室 教授)
  • ATTRvアミロイドーシスの早期診断と治療最前線
    第27回日本神経感染症学会総会・学術大会, 13 Oct. 2023, 山野嘉久(聖マリアンナ医科大学 脳神経内科 主任教授)
  • アミロイドーシス診療の現状と将来展望 ―アミロイドーシスに関する調査研究班の活動―
    第10回日本アミロイドーシス学会学術集会, 23 Sep. 2023, 北岡 裕章(高知大学医学部 老年病・循環器内科学 教授)
  • 手足のしびれとアミロイドーシス
    第10回日本アミロイドーシス学会学術集会, 23 Sep. 2023, 北岡 裕章(高知大学医学部 老年病・循環器内科学 教授)
  • ATTRアミロイドーシス診療のこれまでとこれから
    第10回日本アミロイドーシス学会学術集会, 23 Sep. 2023, 北岡 裕章(高知大学医学部 老年病・循環器内科学 教授)
  • ATTRアミロイドーシス治療の最近の進歩
    第34回日本末梢神経学会学術集会, 08 Sep. 2023, 柿木良介(近畿大学医学部整形外科)
  • アミロイドーシス診療の最前線-認知症から全身性アミロイドーシスまで-
    第56回姫路市医師会夏季大学, 23 Jul. 2023, Invited
  • 認知症の基礎と最新の話題
    長野市薬剤師会2023年度 第4回生涯教育講座, 19 Jul. 2023, Invited
  • 遺伝性神経疾患と遺伝カウンセリング-overview-
    第47回日本遺伝カウンセリング学会学術集会, 07 Jul. 2023, 古庄知己(信州大学医学部遺伝医学教室 教授)
  • 遺伝性ニューロパチーにおける早期治療の診断の必要性と最新の治療
    日本神経学会学術大会, 03 Jun. 2023, 桑原 聡(千葉大学大学院医学研究院 脳神経内科学 教授), Invited
  • 第2世代siRNA製剤で変わるATTRvアミロイドーシス診療
    第64回日本神経学会学術大会, 02 Jun. 2023, 桑原聡(千葉大学大学院医学研究院 脳神経内科学 教授)
  • ニューロパチー診療の進歩―核酸医薬を中心に―
    第120回日本内科学会総会・講演会, 14 Apr. 2023

Research Themes

  • ATTRアミロイドーシスを代表とするアミロイドーシス・タンパク質ミスフォールディング病の病態解明及び治療法開発