Doctor of Medicine, 信州大学

Neurology, Neurology

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-
関島良樹
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-
関島良樹
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
関島良樹
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）
関島良樹
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
髙橋佑介、小平農、上原魁、伊東清志、矢崎正英、山田光則、関島良樹
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
稲葉雄二、関島良樹
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

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

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

Tongue Hemiatrophy in Multifocal Motor Neuropathy
Tajiri M, Kodaira M, Nakamura K, Sekijima Y
62(18), 2759-2760, 2023, Refereed

Hypertrophic pachymeningitis in ANCA-associated vasculitis: Clinical and immunopathological features and insights
Shimojima Y, Sekijima Y
Autoimmun Rev, 22(6), 103338-103338, 2023, Refereed

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

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

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

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

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

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

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

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

"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

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

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

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

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

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

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

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

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

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

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

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

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, Refereed

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, Refereed

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, Refereed

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, Refereed

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, Refereed

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, Refereed

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, Refereed

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, Refereed

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, Refereed

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, Refereed

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

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, Refereed

アルツハイマー病　原因と危険因子
関島良樹／池田修一
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, Refereed

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, Refereed

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, Refereed

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, Refereed

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, Refereed

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, Refereed

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, Refereed

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, Refereed

全身性アミロイドーシスからアルツハイマー病へのimplication
関島良樹
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

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

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

アミロイドニューロパチー
Contributor
中外医学社, 321-326 2023

野生型ATTRアミロイドーシスによる手根管症候群
Contributor
中外医学社, 245-251 2023

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

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

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

アミロイドーシスに関する調査研究
難治性疾患政策研究事業, 厚生労働省
2023 - 2025

病的バリアントを有する遺伝性認知症を対象としたコホート構築による病態解明、 バイオマーカー開発、治験促進
国立研究開発法人日本医療研究開発機構　認知症研究開発事業

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