21世紀の疾患：神経関連アミロイド－シス

出版社： 医学と看護社
著者：
発行日： 2020-04-01
分野： 臨床医学：内科  >  脳神経科学/神経内科学
ISBN： 9784909888075
電子書籍版： 2020-04-01 （第1版第1刷）
書籍・雑誌
≪全国送料無料でお届け≫
取寄せ目安：8～14営業日

6,380 円(税込)

購入する
電子書籍
章別単位での購入はできません
ブラウザ、アプリ閲覧

6,380 円(税込)

購入する

商品紹介

アミロイドーシスは様々な臓器障害を引き起こすブロードな疾患である！
本書は、重要な多くの病理写真をカラーで提示し、本文と関連するSide Memoや身近な話題から診療のヒントに結びつく「アミロイドーシスよもやま話」なども収め、広く基礎研究者、様々なフィールドの臨床医にとって様々な観点から研究や日常診療に役立つ情報を提供する。

目次

  • 序章　神経系アミロイドーシスの変遷

    I章　総論
    　１　アミロイドーシスの分類
    　１-付　用語解説および表記法
    　２　神経系のアミロイド形成機構
    　３　神経系のアミロイドーシスの病理
    　４　神経関連アミロイドーシスの検査

    II章　疾患論
    　１　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: ATTR-FAP）
    　２　ATTRｗ t アミロイドーシス
    　３　脳アミロイドアンギオパチー
    　４　ALアミロイドーシス

    III章　アミロイドーシス診断・病態解析の新たな視点
    　１　神経関連アミロイドーシスにおける心アミロイドーシスの重要性
    　２　質量分析法を活用したアミロイドーシスの診断
    　３　TTR関連アミロイドーシス治療の今後の新たな展望―薬剤を中心に

この書籍の参考文献

参考文献のリンクは、リンク先の都合等により正しく表示されない場合がありますので、あらかじめご了承下さい。

本参考文献は電子書籍掲載内容を元にしております。

I章 総論

P.24 掲載の参考文献
1) Benson MD, Buxbaum JN, Eisenberg DS, et al : Amyloid nomenclature 2018 : recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid 2018 ; 25 : 215-9
 
2) Tasaki M, Ueda M, Hoshii Y, et al : A novel age-related venous amyloidosis derived from EGFcontaining fibulin-like extracellular matrix protein 1. J Pathol 2019 ; 247 : 444-55
 
3) Glennner GG, Wong CW : Alzheimer's disease : initial report of the purification and characterization of a novel cerebrovascular amyloid protein. Biochem Biophys Res Commun 1984 ; 120 : 885-90
 
4) Niebuhr E : Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21. Humangenetik 1974 ; 21 : 99-101
 
5) Prusiner SB : Novel proteinaceous infectious particles cause scrapie. Science 1982 ; 216 : 885-90
 
6) 厚生労働科学研究費補助金難治性疾患克服研究事業「プリオン病及び遅発性ウイルス感染症に関する調査研究班」編 : プリオン病診断ガイドライン 2017
 
7) Gahr M, Nowak DA, Connemann BJ, et al : Cerebral Amyloidal Angiopathy--a disease with implications for neurology and psychiatry. Brain Res 2013 ; 1519 : 19-30
 
8) Nakamura M, Yamashita T, Ueda M, et al : Neuroradiologic and clinicopathologic features of oculoleptomeningeal type amyloidosis. Neurology 2005 ; 65 : 1051-6
 
9) Hagiwara K, Ochi H, Suzuki S, et al : Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr. Neurology 2009 ; 72 : 1358-60
 
10) Ellie E, Camou F, Vital A, et al : Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). Neurology 2001 ; 57 : 135-7
 
11) Mawet J, Adam J, Errera MH, et al : Cerebral immunoglobulin light chain amyloid angiopathyrelated hemorrhages. Rev Neurol (Paris) 2009 ; 165 : 583-7
 
12) Cohen AS, Benson MD : Amyloid neuropathy. In Dyck PJ, Thomas PK, Lambert EH, editors. Peripheral neuropathy. Vol 2. 2nd ed. Philaderphia : Saunders ; 1975. P. 1082-7
 
13) Kyle RA, Gerts MA : Primary systemic amyloidosis : clinical and laboratory features in 474 cases. Semin Hematol 1995 ; 32 : 45-59
 
14) Duston MA, Skinner M, Anderson J, et al : Peripheral neuropathy as an early marker of AL amyloidosis. Arch Intern Med 1989 ; 149 : 358-360
 
15) Spuler S, Emslie-Smith A, Engel AG : Amyloid myopathy : an underdiagnosed entity. Ann Neurol 1998 ; 43 : 719-28
 
16) Arima T, Ando Y, Ando E, et al : Secondary amyloidosis with severe autonomic dysfunction. J Auton Nerv Syst 1995 ; 52 : 77-81
 
17) Pitkanen P, Westermark P, Cornwell GG 3rd : Senile systemic amyloidosis. Am J Pathol 1984 ; 117 : 391-9
 
18) Sueyoshi T, Ueda M, Jono H, et al : Wild-type transthyretin-derived amyloidosis in various ligaments and tendons. Hum Pathol 2011 ; 42 : 1259-64
 
19) Yanagisawa A, Ueda M, Sueyoshi T, et al : Amyloid deposits derived from transthyretin in the ligamentum flavum as related to lumbar spinal canal stenosis. Mod Pathol 2015 ; 28 : 201-7
 
20) Andrade C : A peculiar form of peripheral neuropathy ; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952 ; 75 : 408-27
 
21) Tawara S, Nakazato M, Kangawa K, et al : Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun 1983 ; 116 : 880-8
 
22) Rowczenio DM, Noor I, Gillmore JD, et al : Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Hum Mutat 2014 ; 35 : E2403-12
 
23) Kon T, Misumi Y, Nishijima H, et al : Effects of liver transplantation and tafamidis in hereditary transthyretin amyloidosis caused by transthyretin Leu55Pro mutation : a case report. Amyloid 2015 ; 22 : 203-4
 
24) Obayashi K, Misumi Y, Watanabe T, et al : Dominant cardiac type of familial amyloidotic polyneuropathy associated with a novel transthyretin variant Thr59Arg. Muscle Nerve 2013 ; 48 : 839-41
 
25) Valleix S, Gillmore JD, Bridoux F, et al : Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin. N Engl J Med 2012 ; 366 : 2276-83
 
26) Adachi E, Nakajima H, Mizuguchi C, et al : Dual role of an N-terminal amyloidogenic mutation in apolipoprotein A-I : destabilization of helix bundle and enhancement of fibril formation. J Biol Chem 2013 ; 288 : 2848-56
 
27) Kiuru-Enari S, Haltia M : Hereditary gelsolin amyloidosis. Handb Clin Neurol 2013 ; 115 : 659-81
 
28) Sunada Y, Shimizu T, Nakase H, et al : Inherited amyloid neuropathy typeIV (gelsolin variant) in a Japanese family. Ann Neurol 1993 ; 33 : 57-62
 
P.28 掲載の参考文献
1) Eanes ED, Glenner GG : X-ray diffraction studies on amyloid filaments. J Histochem Cytochem 1968 ; 16 : 673-7
 
2) Glenner GG, Terry W, Harada M, et al : Amyloid fibril proteins : proof of homology with immunoglobulin light chains by sequence analyses. Science 1971 ; 172 : 1150-1
 
3) Glenner GG, Wong CW : Alzheimer's disease : initial report of the purification and characterization of a novel cerebrovascular amyloid protein. Biochem Biophys Res Commun 1984 ; 120 : 885-90
 
P.34 掲載の参考文献
1) J.D. Sipe, A.S. Cohen, et al : Review : history of the amyloid fibril. J Struct Biol 2000 ; 130 : 88-98
 
2) Gremer L, Scholzel D, Schroder GF, et al : Fibril structure of amyloid-β (1-42) by cryo-electron microscopy. Science 2017 ; 358 : 116-9
 
3) Li B, Ge P, Jiang L, et al : Cryo-EM of full-length α-synuclein reveals fibril polymorphs with a common structural kernel. Nat Commun 2018 ; 9 : 3609
 
4) Fitzpatrick AWP, Falcon B, Scheres SHW, et al : Cryo-EM structures of tau filaments from Alzheimer's disease. Nature 2017 ; 547 : 185-90
 
5) Liberta F, Loerch S, Schmidt M, et al : Cryo-EM fibril structures from systemic AA amyloidosis reveal the species complementarity of pathological amyloids. Nat Commun 2019 ; 10 : 1104
PubMed
6) Swuec P, Lavatelli F, Bolognesi M, et al : Cryo-EM structure of cardiac amyloid fibrils from an immunoglobulin light chain AL amyloidosis patient. Nat Commun 2019 ; 10 : 1269
PubMed
7) Idenza MG, Jackson MP, Radford SE, et al : A new era for understanding amyloid structures and disease. Nat Rev Mol Cell Biol 2018 ; 19 : 755-73
 
8) Dobson CM : Protein folding and misfolding. Nature 2003 ; 426 : 884-90
 
9) Okuno A, Kato M, Taniguchi Y, et al : The secondary structure of pressure- and temperature-induced aggregates of equine serum albumin studied by FT-IR spectroscopy. Biochim Biophys Acta 2006 ; 1764 : 1407-12
 
10) Matsunaga N, Ando Y, Suhr OB, et al : Advanced glycation end products (AGE) and the receptor for AGE are present in gastrointestinal tract of familial amyloidotic polyneuropathy patients but do not induce NF-kappaB activation. Acta Neuropathol 2002 ; 104 : 441-7
PubMed
11) Endo Y, Hasegawa K, Naiki H, et al : Apolipoprotein E and clusterin inhibit the early phase of amyloid-β aggregation in an in vitro model of cerebral amyloid angiopathy. Acta Neuropathol Commun 2019 ; 7 : 12
 
12) Inoue Y, Ueda M, Ando Y, et al : Sushi repeat-containing protein 1 : a novel disease-associated molecule in cerebral amyloid angiopathy. Acta Neuropathol 2017 ; 134 : 605-17
 
13) Blake C, Serpell L, et al : Synchrotron X-ray studies suggest that the core of the transthyretin amyloid fibril is a continuous beta-sheet helix. Structure 1996 ; 4 : 989-98
 
14) Thylen C, Wahlqvist J, Lundgren E, et al : Modifications of transthyretin in amyloid fibrils : analysis of amyloid from homozygous and heterozygous individuals with the Met30 mutation. EMBO J 1993 ; 12 : 743-8
 
15) Niraula TN, Haraoka K, Ando Y, et al : Decreased thermodynamic stability as a crucial factor for familial amyloidotic polyneuropathy. J Mol Biol 2002 ; 320 : 333-42
 
16) Ihse E, Rapezzi C, Westermark P, et al : Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. Amyloid 2013 ; 20 : 142-50
 
17) Ueda M, Okada M, Ando Y, et al : A cell-based high-throughput screening method to directly examine transthyretin amyloid fibril formation at neutral pH. J Biol Chem 2019 ; 294 : 11259-75
 
18) Almeida MR, Ando Y, Saraiva MJ, et al : Comparative studies of two transthyretin variants with protective effects on familial amyloidotic polyneuropathy : TTR R104H and TTR T119M. Biochem Biophys Res Commun 2000 ; 270 : 1024-8
 
19) Selkoe DJ, Hardy J, et al : The amyloid hypothesis of Alzheimer's disease at 25 years. EMBO Mol Med 2016 ; 8 : 595-608
 
20) Da Mesquita S, Louveau A, Kipnis J, et al : Functional aspects of meningeal lymphatics in ageing and Alzheimer's disease. Nature 2018 ; 560 : 185-91
 
21) Merlini G : AL amyloidosis : from molecular mechanisms to targeted therapies. Hematology Am Soc Hematol Educ Program 2017 ; 2017 : 1-12
 
22) Braak H, Del Tredici K, Rub U, et al : Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging 2003 ; 24 : 197-211
 
23) Kordower JH, Chu Y, Hauser RA, et al : Lewy body-like pathology in long-term embryonic nigral transplants in Parkinson's disease. Nat Med 2008 ; 14 : 504-6
 
24) Karpowicz RJ Jr, Trojanowski JQ, Lee VM, et al : Transmission of α-synuclein seeds in neurodegenerative disease : recent developments. Lab Invest 2019 ; 99 : 971-81
 
25) Araki K, Yagi N, Mochizuki H, et al : Parkinson's disease is a type of amyloidosis featuring accumulation of amyloid fibrils of α-synuclein. Proc Natl Acad Sci USA 2019 ; 116 : 17963-9
 
P.41 掲載の参考文献
1) Donnelly JP, Hanna M, Sperry BW, et al : Carpal Tunnel Syndrome : A Potential Early, Red-Flag Sign of Amyloidosis. J Hand Surg Am 2019 ; in press
 
2) Coimbra A, Andrade C : Familial amyloid polyneuropathy : an electron microscope study of the peripheral nerve in five cases. I. Interstitial changes. Brain 1971 ; 94 : 199-206
 
3) Sobue G, Nakao N, Murakami K, et al : Type I familial amyloid polyneuropathy. A pathological study of the peripheral nervous system. Brain 1990 ; 113 : 903-19
 
4) Said G : Familial amyloid polyneuropathy : mechanisms leading to nerve degeneration. Amyloid 2003 ; 10 : 7-12
 
5) Misu Ki, Hattori N, Nagamatsu M, et al : Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. Brain 1999 ; 122 : 1951-62
 
6) Dyck PJ, Lambert EH : Dissociated sensation in amylidosis. Compound action potential, quantitative histologic and teased-fiber, and electron microscopic studies of sural nerve biopsies. Arch Neurol 1969 ; 20 : 490-507
 
7) Koike H, Misu K, Sugiura M, et al : Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy. Neurology 2004 ; 63 : 129-38
 
8) Said G, Ropert A, Faux N : Length-dependent degeneration of fibers in Portuguese amyloid polyneuropathy : a clinicopathologic study. Neurology 1984 ; 34 : 1025-32
 
9) Tasaki M, Ueda M, Obayashi K, et al : Effect of age and sex differences on wild-type transthyretin amyloid formation in familial amyloidotic polyneuropathy : a proteomic approach. Int J Cardiol 2013 ; 170 : 69-74
 
10) Bergstrom J, Gustavsson A, Hellman U, et al : Amyloid deposits in transthyretin-derived amyloidosis : cleaved transthyretin is associated with distinct amyloid morphology. J Pathol 2005 ; 206 : 224-32
 
11) Adams D, Lozeron P, Theaudin M, et al : Regional difference and similarity of familial amyloidosis with polyneuropathy in France. Amyloid 2012 ; 19 : 61-4
 
12) Koike H, Ikeda S, Takahashi M, et al : Schwann cell and endothelial cell damage in transthyretin familial amyloid polyneuropathy. Neurology 2016 ; 87 : 2220-9
 
13) Andersson K, Olofsson A, Nielsen EH, et al : Only amyloidogenic intermediates of transthyretin induce apoptosis. Biochem Biophys Res Commun 2002 ; 294 : 309-14
 
14) Sousa MM, Cardoso I, Fernandes R, et al : Deposition of transthyretin in early stages of familial amyloidotic polyneuropathy : evidence for toxicity of nonfibrillar aggregates. Am J Pathol 2001 ; 159 : 1993-2000
 
15) Nakamura M, Yamashita T, Ueda M, et al : Neuroradiologic and clinicopathologic features of oculoleptomeningeal type amyloidosis. Neurology 2005 ; 65 : 1051-6
 
16) Sekijima Y, Yazaki M, Oguchi K, et al : Cerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis. Neurology 2016 ; 87 : 773-81
 
17) Kyle RA, Greipp PR, O'Fallon WM : Primary systemic amyloidosis : multivariate analysis for prognostic factors in 168 cases. Blood 1986 ; 68 : 220-4
PubMed
18) Sommer C, Schroder JM : Amyloid neuropathy : immunocytochemical localization of intra- and extracellular immunoglobulin light chains. Acta Neuropathol 1989 ; 79 : 190-9
 
19) Kiuru-Enari S, Somer H, Seppalainen AM, et al : Neuromuscular pathology in hereditary gelsolin amyloidosis. J Neuropathol Exp Neurol 2002 ; 61 : 565-71
 
20) Van Allen MW, Frohlich JA, Davis JR : Inherited predisposition to generalized amyloidosis. Clinical and pathological study of a family with neuropathy, nephropathy, and peptic ulcer. Neurology 1969 ; 19 : 10-25
 
21) Valleix S, Gillmore JD, Bridoux F, et al : Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin. N Engl J Med 2012 ; 366 : 2276-83
 
22) Garcia Y, Collins AB, Stone JR : Abdominal fat pad excisional biopsy for the diagnosis and typing of systemic amyloidosis. Hum Pathol 2018 ; 72 : 71-9
 
23) van Gameren II, Hazenberg BP, Bijzet J, et al : Diagnostic accuracy of subcutaneous abdominal fat tissue aspiration for detecting systemic amyloidosis and its utility in clinical practice. Arthritis Rheum 2006 ; 54 : 2015-21
 
24) Quarta CC, Gonzalez-Lopez E, Gilbertson JA, et al : Diagnostic sensitivity of abdominal fat aspiration in cardiac amyloidosis. Eur Heart J 2017 ; 38 : 1905-8
 
25) Fine NM, Arruda-Olson AM, Dispenzieri A, et al : Yield of noncardiac biopsy for the diagnosis of transthyretin cardiac amyloidosis. Am J Cardiol 2014 ; 113 : 1723-7
 
26) Takashio S, Izumiya Y, Jinnin M, et al : Diagnostic and prognostic value of subcutaneous tissue biopsy in patients with cardiac amyloidosis. Am J Cardiol 2012 ; 110 : 1507-11
PubMed
27) Masuda T, Ueda M, Suenaga G, et al : Early skin denervation in hereditary and iatrogenic transthyretin amyloid neuropathy. Neurology 2017 ; 88 : 2192-7
 
28) Ikeda S, Sekijima Y, Tojo K, et al : Diagnostic value of abdominal wall fat pad biopsy in senile systemic amyloidosis. Amyloid. 2011 ; 18 : 211-5
PubMed
29) Suzuki T, Kusumoto S, Yamashita T, et al : Labial salivary gland biopsy for diagnosing immunoglobulin light chain amyloidosis : a retrospective analysis. Ann Hematol 2016 ; 95 : 279-85
 
30) Hachulla E, Janin A, Flipo RM, et al : Labial salivary gland biopsy is a reliable test for the diagnosis of primary and secondary amyloidosis. A prospective clinical and immunohistologic study in 59 patients. Arthritis Rheum 1993 ; 36 : 691-7
 
31) Do Amaral B, Coelho T, Sousa A, et al : Usefulness of labial salivary gland biopsy in familial amyloid polyneuropathy Portuguese type. Amyloid 2009 ; 16 : 232-8.
PubMed
32) Lechapt-Zalcman E, Authier FJ, Creange A, et al : Labial salivary gland biopsy for diagnosis of amyloid polyneuropathy. Muscle Nerve 1999 ; 22 : 105-7
PubMed
33) Li T, Huang X, Cheng S, et al : Utility of abdominal skin plus subcutaneous fat and rectal mucosal biopsy in the diagnosis of AL amyloidosis with renal involvement. PLoS One 2017 ; 12 : e0185078.
 
34) Shimazaki C, Hata H, Iida S, et al : Nationwide Survey of 741 Patients with Systemic Amyloid Light-chain Amyloidosis in Japan. Intern Med 2018 ; 57 : 181-7
 
35) Ikeda SI, Makishita H, Oguchi K, et al : Gastrointestinal amyloid deposition in familial amyloid polyneuropathy. Neurology 1982 ; 32 : 1364-8
 
36) Yoshimatsu S, Ando Y, Terazaki H, et al : Endoscopic and pathological manifestations of the gastrointestinal tract in familial amyloidotic polyneuropathy type I (Met30). J Intern Med 1998 ; 243 : 65-72
 
37) Ueda M, Horibata Y, Shono M, et al : Clinicopathological features of senile systemic amyloidosis : an ante- and post-mortem study. Mod Pathol 2011 ; 24 : 1533-44
PubMed
P.50 掲載の参考文献
1) Benson MD, Buxbaum JN, Eisenberg DS, et al : Amyloid nomenclature 2018 : recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid 2018 ; 25 : 215-9
 
2) Wechalekar AD, Gillmore JD, Hawkins PN : Systemic amyloidosis. Lancet 2016 ; 387 : 2641-54
 
3) Merlini G, Dispenzieri A, Sanchorawala V, et al : Systemic immunoglobulin light chain amyloidosis. Nat Rev Dis Primers 2018 ; 4 : 38
PubMed
4) Ando Y, Coelho T, Berk JL, et al : Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis 2013 ; 8 : 31-46
 
5) Sekijima Y, Ueda M, Koike H, et al : Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan : red-flag symptom clusters and treatment algorithm. Orphanet J Rare Dis 2018 ; 13 : 6
PubMed
6) Vrana JA, Gamez JD, Madden BJ, et al : Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens. Blood 2009 ; 114 : 4957-9
 
7) Ando Y, Nakamura M, Araki S : Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol 2005 ; 62 : 1057-62
PubMed
8) Plant'e-Bordeneuve V, Ferreira A, Lalu T, et al : Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology 2007 ; 69 : 693-8
 
9) Lozeron P, Mariani LL, Dodet P, et al : Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy. Neurology 2018 ; 91 : e143-e152
 
10) Fosbol EL, Rorth R, Leicht BP, et al : Association of carpal tunnel syndrome with amyloidosis, heart failure, and adverse cardiovascular outcomes. J Am Coll Cardiol 2019 ; 74 : 15-23
 
11) Masuda T, Ueda M, Suenaga G, et al : Early skin denervation in hereditary and iatrogenic transthyretin amyloid neuropathy. Neurology 2017 ; 88 : 2192-7
 
12) Obayashi K, Yamashita T, Tasaki M, et al : Amyloid neuropathy in a younger domino liver transplanted recipient. Muscle Nerve 2011 ; 43 : 449-50
 
13) Lauria G, Hsieh ST, Johansson O, et al : European Federation of Neurological Societies/Peripheral Nerve Society Guideline on the use of skin biopsy in the diagnosis of small fiber neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society. Eur J Neurol 2010 ; 17 : 903-12
 
14) Chao CC, Hsueh HW, Kan HW, et al : Skin nerve pathology : Biomarkers of premanifest and manifest amyloid neuropathy. Ann Neurol 2019 ; 85 : 560-73
 
15) Kollmer J, Hund E, Hornung B, et al : In vivo detection of nerve injury in familial amyloid polyneuropathy by magnetic resonance neurography. Brain 2015 ; 138 : 549-62
 
16) Masuda T, Ueda M, Kitajima M, et al : Morphology of lumbosacral dorsal root ganglia and plexus in hereditary transthyretin amyloidosis. Neurology 2018 ; 91 : e1834-e1835
 
17) Ando Y, Obayashi K, Tanaka Y, et al : Radiolabelled meta-iodobenzylguanidine in assessment of autonomic dysfunction. Lancet 1994 ; 343 : 984-5
 
18) Ando Y, Araki S, Shimaoka O, et al : Role of autonomic nerve functions in patients with familial amyloidotic polyneuropathy as analyzed by laser Doppler flowmetry, capsule hydrograph, and cardiographic R-R interval. Muscle Nerve 1992 ; 15 : 507-12
 
19) Yonehara T, Ando Y, Kimura K, et al : etection of reverse flow by duplex ultrasonography in orthostatic hypotension. Stroke 1994 ; 25 : 2407-11
 
20) Obayashi K, Ando Y, Nakamura M, et al : Near-infrared spectrophotoscopy of finger venules in assessment of autonomic dysfunction. Neurology 2004 ; 63 : 164-6
 
21) Castro J, Miranda B, Castro I, et al : The diagnostic accuracy of Sudoscan in transthyretin familial amyloid polyneuropathy. Clin Neurophysiol 2016 ; 127 : 2222-7
 
22) Ando Y, Yi S, Nakagawa T, et al : Disturbed metabolism of glucose and related hormones in familial amyloidotic polyneuropathy : hypersensitivities of the autonomic nervous system and therapeutic prevention. J Auton Nerv Syst 1991 ; 35 : 63-70
 
23) Nakamura M, Yamashita T, Ueda M, et al : Neuroradiologic and clinicopathologic features of oculoleptomeningeal type amyloidosis. Neurology 2005 ; 65 : 1051-6
 
24) Sekijima Y, Yazaki M, Oguchi K, et al : Cerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis. Neurology 2016 ; 87 : 773-81
 
25) Ando E, Ando Y, Maruoka S, et al : Ocular microangiopathy in familial amyloidotic polyneuropathy, type I. Graefee Arch Clin Exp Ophthalmol 1992 ; 230 : 1-5
PubMed
26) Rousseau A, Cauquil C, Dupas B, et al : Potential role of in vivo confocal microscopy for imaging corneal nerves in transthyretin familial amyloid polyneuropathy. JAMA Ophthalmol 2016 ; 134 : 983-9
PubMed
27) Martinez-Naharro A, Kotecha T, Norrington K, et al : Native T1 and Extracellular Volume in Transthyretin Amyloidosis. JACC Cardiovasc Imaging 2019 ; 12 : 810-9
 
28) Bokhari S, Castano A, Pozniakoff T, et al : (99m) Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses. Circ Cardiovasc Imaging 2013 ; 6 : 195-201
 
29) Dorbala S, Vangala D, Semer J, et al : Imaging cardiac amyloidosis : a pilot study using 18F-florbetapir positron emission tomography. Eur J Nucl Med Mol Imaging 2014 ; 41 : 1652-62
 
30) Misumi Y, Ueda M, Yamashita T, et al : Novel screening for transthyretin amyloidosis by using fat ultrasonography. Ann Neurol 2017 ; 81 : 604-8
 

II章 疾患論

P.72 掲載の参考文献
1) Adams D, Suhr OB, Hund E, et al : European Network for TTR-FAP (ATTReuNET). First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol 2016 ; 29 Suppl 1 : S14-26
 
2) Adams D, Gonzalez-Duarte A, O'Riordan WD, et al : Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis. N Engl J Med 2018 ; 379 : 11-21
 
3) Anderson R : Familial amyloidosis with polyneuropathy. A clinical study based on patients living in northern Sweden. Acta Med Scand 1976 ; 590 : 1-64
 
4) Ando Y, Yi S, Nakagawa T, et al : Disturbed metabolism of glucose and related hormones in familial amyloidotic polyneuropathy : hypersensitivities of the autonomic nervous system and therapeutic prevention. J Auton Nerv Syst 1991 ; 35 : 63-70
 
5) Ando Y, Araki S, Ando M : Transthyretin and familial amyloidotic polyneuropathy. Intern Med 1993 ; 32 : 920-2
 
6) Ando Y, Obayashi K, Tanaka Y, et al : Radiolabelled meta-iodobenzylguanidine in assessment of autonomic dysfunction. Lancet 1994 ; 343 : 984-5
 
7) Ando Y, Tashima K, Tanaka Y, et al : Treatment of a Japanese patient with familial amyloidotic polyneuropathy with orthotopic liver transplantation. Intern Med 1994 ; 33 : 730-2
PubMed
8) Ando Y, Tanaka Y, Ando E, et al : Effect of liver transplantation on autonomic dysfunction in familial amyloidotic polyneuropathy type I. Lancet 1995 ; 345 : 195-6
 
9) Ando Y, Ohlsson PI, Suhr O, et al : A new simple and rapid screening method for variant transthyretin-related amyloidosis. Biochem Biophys Res Commun 1996 ; 228 : 480-3
 
10) Ando Y, Asahara K, Obayashi K, et al : Autonomic dysfunction and anemia in neurologic disorders. J Auton Nerv Syst 1996 ; 61 : 145-8
 
11) Ando Y, Yonehara T, Tanaka Y, et al : Early pacemaker implantation in patients with familial amyloidotic polyneuropathy. Muscle Nerve 1996 ; 19 : 1640-1
 
12) Ando Y, Ando E, Tanaka Y, et al : De novo amyloid synthesis in ocular tissue in familial amyloidotic polyneuropathy after liver transplantation. Transplantation 1996 ; 62 : 1037-8
 
13) Ando Y, and Suhr O : Autonomic dysfunction in familial amyloidotic polyneuropathy (FAP). Amyloid 1998 ; 5 : 288-300
 
14) Ando Y, Nakamura M, Araki S : Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol 2005 ; 62 : 1057-62
PubMed
15) Ando Y, Coelho T, Berk JL, et al : Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis 2013 ; 8 : 31
PubMed
16) Ando Y, Sekijima Y, Obayashi K, et al : Effects of tafamidis treatment on transthyretin (TTR) stabilization, efficacy, and safety in Japanese patients with familial amyloid polyneuropathy (TTRFAP) with Val30Met and non-Val30Met : A phase III, open-label study. J Neurol Sci 2016 ; 362 : 266-71
 
17) Ando E, Ando Y, Okamura R, et al : Ocular manifestations of familial amyloidotic polyneuropathy type I : long-term follow up. Br J Ophthalmol 1997 ; 81 : 295-8
 
18) Andrade C : A peculiar form of peripheral neuropathy ; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952 ; 75 : 408-27
 
19) Araki S : Type I familial amyloidotic polyneuropathy (Japanese type). Brain Dev 1984 ; 6 : 128-33
 
20) Araki S, Mawatari S, Ohta M, et al : Polyneurotic amyloidosis in a Japanese family. Arch Neuro 1968 ; 18 : 593-602
 
21) Benson MD, Dwulet FE : Identification of carriers of a variant plasma prealbumin (transthyretin) associated with familial amyloidotic polyneuropathy type I. J Clin Invest 1985 ; 75 : 71-5
 
22) Benson MD, Liepnieks J, Uemichi T, et al : Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. Nat Genet 1993 ; 3 : 252-5
 
23) Benson MD, Liepnieks JJ, Yazaki M, et al : A new human hereditary amyloidosis : the result of a stop-codon mutation in the apolipoprotein AII gene. Genomics 2001 ; 72 : 272-7
 
24) Benson MD, Kincaid JC : The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007 ; 36 : 411-23
 
25) Benson MD, Waddington-Cruz M, Berk JL, et al : Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis. N Engl J Med 2018 ; 379 : 22-31
 
26) Benson MD, Buxbaum JN, Eisenberg DS, et al : Amyloid nomenclature 2018 : recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid 2018 ; 25 : 215-9
 
27) Berk JL, Suhr OB, Obici L, et al ; Diflunisal Trial Consortium : Repurposing diflunisal for familial amyloid polyneuropathy : a randomized clinical trial. JAMA 2013 ; 310 : 2658-67
 
28) Blevins G, Macaulay R, Harder S, et al : Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. Neurology 2003 ; 60 : 1625-30
 
29) Coelho T, Maia LF, Martins da Silva A, et al : Tafamidis for transthyretin familial amyloid polyneuropathy : a randomized, controlled trial. Neurology 2012 ; 79 : 785-92
 
30) Costa PP, Figueira AS, Bravo FR : Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy. Proc Natl Acad Sci U S A 1978 ; 75 : 4499-503
 
31) Ellie E, Camou F, Vital A, et al : Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). Neurology 2001 ; 57 : 135-7
 
32) Ericzon BG, Wilczek HE, Larsson M, et al : Liver Transplantation for Hereditary Transthyretin Amyloidosis : After 20 Years Still the Best Therapeutic Alternative? Transplantation 2015 ; 99 : 1847-54
 
33) Fonseca C, Ceia F, Nogueira JS, et al : Myocardiopathy caused by Portuguese-type familial amyloidotic polyneuropathy. Sequential morphologic and functional study 60 patients. Rev Port Cardiol1991 ; 10 : 909-16
 
34) Goren H, Steinberg MC, Farboody GH : Familial oculoleptomeningeal amyloidosis. Brain 1980 ; 103 : 473-95
 
35) Goto T, Yamashita T, Ueda M, et al : Iatrogenic amyloid neuropathy in a Japanese patient after sequential liver transplantation. Am J Transplant 2006 ; 6 : 2512-5
 
36) Gustavsson A, Jahr H, Tobiassen R, et al : Amyloid fibril composition and transthyretin gene structure in senile systemic amyloidosis. Lab Invest 1995 ; 73 : 703-8
 
37) Gustafsson S, Ihse E, Henein MY, et al : Amyloid fibril composition as a predictor of development of cardiomyopathy after liver transplantation for hereditary transthyretin amyloidosis. Transplantation 2012 ; 93 : 1017-23
 
38) Hara R, Kawaji T, Ando E, et al : Impact of liver transplantation on transthyretin-related ocular amyloidosis in Japanese patients. Arch Ophthalmol 2010 ; 128 : 206-10
PubMed
39) Hirai T, Ando Y, Yamura M, et al : Transthyretin-related familial amyloid polyneuropathy : evaluation of CSF enhancement on serial T1-weighted and fluid-attenuated inversion recovery images following intravenous contrast administration. AJNR Am J Neuroradiol 2005 ; 26 : 2043-8
PubMed
40) Holmgren G, Steen L, Ekstedt J, et al : Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30). Clin Genet 1991 ; 40 : 242-6
PubMed
41) Holmgren G, Ericzon BG, Groth CG, et al : Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet 1993 ; 341 : 1113-6
 
42) Hoshii Y, Setoguchi M, Iwata T, et al : Useful polyclonal antibodies against synthetic peptides corresponding to immunoglobulin light chain constant region for immunohistochemical detection of immunoglobulin light chain amyloidosis. Pathol Int 2001 ; 51 : 264-70
 
43) Ikeda S, Hanyu N, Hongo M, et al : Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients. Brain 1987 ; 110 : 315-37
 
44) Ikeda S, Takei Y, Yanagisawa N, et al : Peripheral nerves regenerated in familial amyloid polyneuropathy after liver transplantation. Ann Intern Med 1997 ; 127 : 618-20
 
45) Ikeda S, Nakazato M, Ando Y, et al : Familial amyloidotic polyneruoapthy in Japan. Clinical and genetic heterogeneity. Neurology 2002 ; 58 : 1001-7
 
46) Kanda Y, Goodman DS, Canfield RE, et al : The amino acid sequence of human plasma prealbumin. J Biol Chem 1974 ; 249 : 6796-805
 
47) Kawaji T, Ando Y, Ando E, et al : A case of vitreous amyloidosis without systemic symptoms in familial amyloidotic Polyneuropathy. Amyloid 2004 ; 11 : 257-9
 
48) Kawaji T, Ando Y, Hara R, et al : Novel Therapy for Transthyretin-related Ocular Amyloidosis A Pilot Study of Retinal Laser Photocoagulation. Ophthalmology 2010 ; 17 : 552-5
 
49) Kito S, Itoga E, Kamiya K, et al : Studies on familial amyloid polyneuropathy in Ogawa Village, Japan. Eur Neurol 1980 ; 19 : 141-51
 
50) Koike H, Misu K, Ikeda S, et al ; Study Group for Hereditary Neuropathy in Japan : Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan : early- vs late-onset form. Arch Neurol 2002 ; 59 : 1771-6
 
51) Kristen AV, Dengler TJ, Hegenbart U, et al : Prophylactic implantation of cardioverter-defibrillator in patients with severe cardiac amyloidosis and high risk for sudden cardiac death. Heart Rhythm 2008 ; 5 : 235-40
PubMed
52) Lozeron P, Theaudin M, Mincheva Z, et al ; French Network for FAP (CORNAMYL) : Effect on disability and safety of Tafamidis in late onset of Met30 transthyretin familial amyloid polyneuropathy. Eur J Neurol 2013 ; 20 : 1539-45
 
53) Lin G, Dispenzieri A, Kyle R, et al : Implantable cardioverter defibrillators in patients with cardiac amyloidosis. J Cardiovasc Electrophysiol 2013 ; 24 : 793-8
 
54) Liepnieks JJ, Benson MD : Progression of cardiac amyloid deposition in hereditary transthyretin amyloidosis patients after liver transplantation. Amyloid 2007 ; 14 : 277-82
 
55) Liepnieks JJ, Zhang LQ, Benson MD : Progression of transthyretin amyloid neuropathy after liver transplantation. Neurology 2010 ; 75 : 324-7
 
56) Maia LF, Magalhaes R, Freitas J, et al : CNS involvement in V30M transthyretin amyloidosis : clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry 2015 ; 86 : 159-67
 
57) Masuda T, Ueda M, Suenaga G, et al : Early skin denervation in hereditary and iatrogenic transthyretin amyloid neuropathy. Neurology 2017 ; 88 : 2192-7
 
58) Masuda T, Ueda M, Kitajima M, et al : Teaching NeuroImages : Morphology of lumbosacral dorsal root ganglia and plexus in hereditary transthyretin amyloidosis. Neurology 2018 ; 91 : e1834-e1835
 
59) Maurer MS, Schwartz JH, Gundapaneni B, et al ; ATTR-ACT Study Investigators : Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med 2018 ; 379 : 1007-16
 
60) Misu K, Hattori N, Nagamatsu M, et al : Late-onset familial amyloiudotic polyneuropathy type I (Met 30 transthyretin mutation) unrelated to endemic focus in Japan : Clinicopathologic and genetic features. Brain 1999 ; 122 : 1951-62
 
61) Misumi Y, Doki T, Ueda M, et al : Myopathic phenotype of familial amyloid polyneuropathy with a rare transthyretin variant : ATTR Ala45Asp. Amyloid 2014 ; 21 : 216-7
 
62) Misumi Y, Narita Y, Oshima T, et al : Recipient aging accelerates acquired transthyretin amyloidosis after domino liver transplantation. Liver Transpl 2016 ; 22 : 656-64
 
63) Monaco HL, Rizzi M, Coda A : Structure of a complex of two plasma proteins : transthyretin and retinol-binding protein. Science 1995 ; 268 : 1039-41
 
64) Nakamura M, Yamashita T, Ueda M, et al : Neuroradiologic and clinicopathologic features of oculoleptomeningeal type amyloidosis. Neurology 2005 ; 65 : 1051-6
 
65) Nomura T, Ueda M, Tasaki M, et al : New simple and quick method to analyze serum variant transthyretins : direct MALDI method for the screening of hereditary transthyretin amyloidosis. Orphanet J Rare Dis 2019 ; 14 : 116
PubMed
66) Obayashi K, Misumi Y, Watanabe T, et al : Dominant cardiac type of familial amyloidotic polyneuropathy associated with a novel transthyretin variant Thr59Arg. Muscle Nerve 2013 ; 48 : 839-41
 
67) Obici L, Cortese A, Lozza A, et al : Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis : a phase II study. Amyloid 2012 ; 19 Suppl 1 : 34-6
 
68) Okumura K, Yamashita T, Masuda T, et al : Long-term outcome of patients with hereditary transthyretin V30M amyloidosis with polyneuropathy after liver transplantation. Amyloid 2016 ; 23 : 39-45
 
69) Oshima T, Kawahara S, Ueda M, et al : Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation. J Neurol Neurosurg Psychiatry 2014 ; 85 : 740-6
 
70) Okamoto S, Yamashita T, Ando Y, et al : Evaluation of myocardial changes in familial amyloid polyneuropathy after liver transplantation. Intern Med 2008 ; 47 : 2133-7
 
71) Sakashita N, Ando Y, Obayashi K, et al : Familial amyloidotic polyneuropathy (ATTR Ser50Ile) : the first autopsy case report. Virchows Arch 2000 ; 436 : 345-50
PubMed
72) Sakashita N, Ando Y, Jinnouchi K, et al : Familial amyloidotic polyneuropathy (ATTR Val30Met) with widespread cerebral amyloid angiopathy and lethal cerebral hemorrhage. Pathol Int 2001 ; 51 : 476-80
 
73) Sakashita N, Kagawa S, Date R, et al : Marked cardiomegaly in a patient with familial amyloidotic polyneuropathy after orthotopic liver transplantation : a case study. Pathol Int 2013 ; 63 : 260-5
 
74) Sasaki H, Yoshioka N, Takagi Y, et al : Structure of the chromosomal gene for human serum prealbumin. Gene 1985 ; 37 : 191-7
 
75) Sekijima Y, Wiseman RL, Matteson J, et al : The biological and chemical basis for tissue-selective amyloid disease. Cell 2005 ; 121 : 73-85
 
76) Sekijima Y, Dendle MA, Kelly JW : Orally administered diflunisal stabilizes transthyretin against dissociation required for amyloidogenesis. Amyloid 2006 ; 13 : 236-49
 
77) Sekijima Y, Yazaki M, Oguchi K, et al : Cerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis. Neurology 2016 ; 87 : 773-81
 
78) Skinner M, Lewis WD, Jones LA, et al : Liver transplantation as a treatment for familial amyloidotic polyneuropathy. Ann Intern Med 1994 ; 120 : 133-4
 
79) Shimojima Y, Morita H, Kobayashi S, et al : Ten-year follow-up of peripheral nerve function in patients with familial amyloid polyneuropathy after liver transplantation. J Neurol 2008 ; 55 : 1220-5
 
80) Stangou AJ, Heaton ND, Hawkins PN : Transmission of systemic transthyretin amyloidosis by means of domino liver transplantation. N Engl J Med 2005 ; 352 : 2356
PubMed
81) Suhr OB, Friman S, Ericzon BG : Early liver transplantation improves familial amyloidotic polyneuropathy patients' survival. Amyloid 2005 ; 12 : 233-8
 
82) Suhr OB, Larsson M, Ericzon BG, et al ; FAPWTR's investigators : Survival After Transplantation in Patients With Mutations Other Than Val30Met : Extracts From the FAP World Transplant Registry. Transplantation 2016 ; 100 : 373-81
 
83) Takahashi K, Yi S, Kimura Y, Araki S : Familial amyloidotic polyneuropathy type 1 in Kumamoto, Japan : a clinicopathologic, histochemical, immunohistochemical, and ultrastructural study. Hum Pathol 1991 ; 22 : 519-27
 
84) Tasaki M, Ueda M, Hoshii Y, et al : A novel age-related venous amyloidosis derived from EGF containing fibulin-like extracellular matrix protein 1. J Pathol 2019 ; 247 : 444-55
 
85) Tashima K, Ando Y, Terazaki H, et al : Outcome of liver transplantation for transthyretin amyloidosis : follow-up of Japanese familial amyloidotic polyneuropathy patients. J Neurol Sci 1999 ; 171 : 19-23
 
86) Tawara S, Nakazato M, Kangawa K, et al : Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun 1983 ; 116 : 880-8
 
87) Ueda M, Misumi Y, Mizuguchi M, et al : SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy. Clin Chem 2009 ; 55 : 1223-7
 
88) Ueda M, Yamashita T, Misumi Y, et al : Origin of sporadic late-onset hereditary ATTR Val30Met amyloidosis in Japan. Amyloid 2018 ; 25 : 143-7
 
89) Ueda M, Okada M, Mizuguchi M, et al : A cell-based high-throughput screening method to directly examine transthyretin amyloid fibril formation at neutral pH. J Biol Chem 2019 ; 294 : 11259-75
 
90) Uemichi T, Uitti RJ, Koeppen AH, et al : Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64. Arch Neurol 1999 ; 56 : 1152-5
 
91) Ueno S, Fujimura H, Yorifuji S, et al : Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred. Brain 1992 ; 115 : 1275-89
 
92) Ushiyama M, Ikeda S, Yanagisawa N : Transthyretin-type cerebral amyloid angiopathy in type I familial amyloid polyneuropathy. Acta Neuropathol 1991 ; 81 : 524-8
 
93) Valleix S, Gillmore JD, Bridoux F, et al : Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin. N Engl J Med 2012 ; 366 : 2276-83
 
94) Westermark P, Sletten K, Johansson B, et al : Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc Natl Acad Sci U S A 1990 ; 87 : 2843-5
 
95) Yamashita T, Hamidi Asl K, Yazaki M, et al : A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population. Amyloid 2005 ; 12 : 127-30
 
96) Yamashita T, Ando Y, Ueda M, et al : Effect of liver transplantation on transthyretin Tyr114Cys-related cerebral amyloid angiopathy. Neurology 2008 ; 70 : 123-8
 
97) Yamashita T, Ando Y, Okamoto S, et al : Long-term survival after liver transplantation in patients with familial amyloid polyneuropathy. Neurology 2012 ; 78 : 637-43
PubMed
98) Yamashita T, Ueda M, Misumi Y, et al : Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas : experience from a single-referral center in Japan. J Neurol 2018 ; 265 : 134-40
 
99) Yamashita T, Ohnishi K, Ueda M, et al : Transthyretin amyloid-related cerebral angiitis after liver transplantation. Amyloid 2019 ; 26 (sup1) : 11-2
 
100) Yamashita T, Ueda M, Nomura T, et al : Neurology. Natural history and long-term effects of variant prot ein reduction in non-V30M ATTR amyloidosis. Neurology 2019 ; 93 : e1587-e1596
 
101) Yazaki M, Mitsuhashi S, Tokuda T, et al : Progressive wild-type transthyretin deposition after liver transplantation preferentially occurs onto myocardium in FAP patients. Am J Transplant 2007 ; 7 : 235-42
 
P.86 掲載の参考文献
1) Westermark P, Sletten K, Johansson B, et al : Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc Natl Acad Sci USA 1990 ; 87 : 2843-5
 
2) Benson MD, Buxbaum JN, Eisenberg DS, et al : Amyloid nomenclature 2018 : recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid 2018 ; 25 : 215-9
 
3) Sueyoshi T, Ueda M, Jono H, et al : Wild-type transthyretin-derived amyloidosis in various ligaments and tendons. Hum Pathol 2011 ; 42 : 1259-64
 
4) Cornwell GG 3rd, Murdoch WL, Kyle RA, et al : Frequency and distribution of senile cardiovascular amyloid. A clinicopathologic correlation. Am J Med 1983 ; 75 : 618-23
 
5) Ueda M, Horibata Y, Shono M, et al : Clinicopathological features of senile systemic amyloidosis : an ante- and post-mortem study. Mod Pathol 2011 ; 24 : 1533-44
PubMed
6) Fine NM, Arruda-Olson AM, Dispenzieri A, et al : Yield of noncardiac biopsy for the diagnosis of transthyretin cardiac amyloidosis. Am J Cardiol 2014 ; 113 : 1723-7
 
7) Dorbala S, Ando Y, Bokhari S, et al : ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI expert consensus recommendations for multimodality imaging in cardiac amyloidosis : Part 1 of 2-Evidence base and standardized methods of imaging. J Card Fail 2019 (Epub ahead of print)
 
8) Dorbala S, Ando Y, Bokhari S, et al : ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI expert consensus recommendations for multimodality imaging in cardiac amyloidosis : Part 2 of 2-Diagnostic criteria and appropriate utilization. J Card Fail 2019 (Epub ahead of print)
 
9) Maurer MS, Schwartz JH, Gundapaneni B, et al : Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med 2018 ; 379 : 1007-16
 
10) Westermark P, Bergstrom J, Solomon A, et al : Transthyretin-derived senile systemic amyloidosis : clinicopathologic and structural considerations. Amyloid 2003 ; 10 : 48-54
 
11) Yanagisawa A, Ueda M, Sueyoshi T, et al : Amyloid deposits derived from transthyretin in the ligamentum flavum as related to lumbar spinal canal stenosis. Mod Pathol 2015 ; 28 : 201-7
 
12) Ueda M, Okada M, Mizuguchi M, et al : A cell-based high-throughput screening method to directly examine transthyretin amyloid fibril formation at neutral pH. J Biol Chem 2019 ; 294 : 11259-75
 
13) Sekijima Y, Yazaki M, Ueda M, et al : First nationwide survey on systemic wild-type ATTR amyloidosis in Japan. Amyloid 2018 ; 25 : 8-10
PubMed
14) Mohammed SF, Mirzoyev SA, Edwards WD, et al : Left ventricular amyloid deposition in patients with heart failure and preserved ejection fraction. JACC Heart Fail 2014 ; 2 : 113-22
 
15) Gonzalez-Lopez E, Gallego-Delgado M, Guzzo-Merello G, et al : Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. Eur Heart J 2015 ; 36 : 2585-94
 
16) Bennani Smires Y, Victor G, Ribes D, et al : Pilot study for left ventricular imaging phenotype of patients over 65 years old with heart failure and preserved ejection fraction : The high prevalence of amyloid cardiomyopathy. Int J Cardiovasc Imaging 2016 ; 32 : 1403-13
 
17) Coelho T, Maurer MS, Suhr OB ; THAOS-The Transthyretin Amyloidosis Outcomes Survey : initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. Curr Med Res Opin 2013 ; 29 : 63-76
 
18) Lam L, Margeta M, Layzer R : Amyloid polyneuropathy caused by wild-type transthyretin. Muscle Nerve 2015 ; 52 : 146-9
 
19) Yanagisawa A, Ueda M, Sueyoshi T, et al : Knee osteoarthritis associated with different kinds of amyloid deposits and the impact of aging on type of amyloid. Amyloid 2016 ; 23 : 26-32
 
20) Fosbol EL, Rorth R, Leicht BP, et al : Association of carpal tunnel syndrome with amyloidosis, Heart Failure, and Adverse Cardiovascular Outcomes. J Am Coll Cardiol 2019 ; 74 : 15-23
 
21) Connors LH, Sam F, Skinner M, et al : Heart failure resulting from age-related cardiac amyloid disease associated with wild-type transthyretin : A prospective, observational cohort study. Circulation 2016 ; 133 : 282-90
 
P.92 掲載の参考文献
1) Yamada M : Cerebral amyloid angiopathy : an overview. Neuropathology 2000 ; 20 : 8-22
 
2) Greenberg SM, Briggs ME, Hyman BT, et al : Apolipoprotein E epsilon 4 is associated with the presence and earlier onset of hemorrhage in cerebral amyloid angiopathy. Stroke 1996 ; 27 : 1333-7
PubMed
3) Biffi A, Greenberg SM : Cerebral amyloid angiopathy : a systematic review. J Clin Neurol 2011 ; 7 : 1-9
 
4) Yamashita T, Ando Y, Ueda M, et al : Effect of liver transplantation on transthyretin Tyr114Cys-related cerebral amyloid angiopathy. Neurology 2008 ; 70 : 123-8
 
5) Maia LF, Magalhaes R, Freitas J, et al : CNS involvement in V30M transthyretin amyloidosis : clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry 2015 ; 86 : 159-67
 
6) Holmgren G, Ericzon BG, Groth CG, et al : Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet 1993 ; 341 : 1113-6
 
7) Berk JL, Suhr OB, Obici L, et al : Repurposing diflunisal for familial amyloid polyneuropathy : a randomized clinical trial. JAMA 2013 ; 310 : 2658-67
 
8) Inoue Y, Miyashita F, Minematsu K, et al : Clinical Characteristics and Outcomes of Intracerebral Hemorrhage in Very Elderly. J Stroke Cerebrovasc Dis 2018 ; 27 : 97-102
 
9) Shinkai Y, Yoshimura M, Ito Y, et al : Amyloid beta-proteins 1-40 and 1-42 (43) in the soluble fraction of extra- and intracranial blood vessels. Ann Neurol 1995 ; 38 : 421-8
 
10) Cook DG, Leverenz JB, McMillan PJ, et al : Reduced hippocampal insulin-degrading enzyme in lateonset Alzheimer's disease is associated with the apolipoprotein E-epsilon4 allele. Am J Pathol 2003 ; 162 : 313-9
 
11) Yasojima K, Akiyama H, McGeer EG, et al : Reduced neprilysin in high plaque areas of Alzheimer brain : a possible relationship to deficient degradation of beta-amyloid peptide. Neurosci Lett 2001 ; 297 : 97-100
 
12) Deane R, Wu Z, Sagare A, Davis J, et al : LRP/amyloid beta-peptide interaction mediates differential brain efflux of Abeta isoforms. Neuron 2004 ; 43 : 333-44
 
13) Yan SD, Chen X, Fu J, et al : RAGE and amyloid-beta peptide neurotoxicity in Alzheimer's disease. Nature 1996 ; 382 : 685-91
 
14) Weller RO, Djuanda E, Yow HY, et al : Lymphatic drainage of the brain and the pathophysiology of neurological disease. Acta Neuropathol 2009 ; 117 : 1-14
 
15) Charidimou A1, Peeters A, Fox Z, et al : Spectrum of transient focal neurological episodes in cerebral amyloid angiopathy : multicentre magnetic resonance imaging cohort study and metaanalysis. Stroke 2012 ; 43 : 2324-30
 
16) Smith EE, Schneider JA, Wardlaw JM, et al : Cerebral microinfarcts : the invisible lesions. Lancet Neurol 2012 ; 11 : 272-82
 
17) Cai Z, Liu Z, Xiao M, et al : Chronic Cerebral Hypoperfusion Promotes Amyloid-Beta Pathogenesis via Activating β/γ-Secretases. Neurochem Res 2017 ; 42 : 3446-55
 
18) Knudsen KA1, Rosand J, Karluk D, et al : Clinical diagnosis of cerebral amyloid angiopathy : validation of the Boston criteria. Neurology 2001 ; 56 : 537-9
 
19) Hirohata M, Yoshita M, Ishida C, et al : Clinical features of non-hypertensive lobar intracerebral hemorrhage related to cerebral amyloid angiopathy. Eur J Neurol 2010 ; 17 : 823-9
 
20) Inoue Y, Nakajima M, Uetani H, et al : Diagnostic Significance of Cortical Superficial Siderosis for Alzheimer Disease in Patients with Cognitive Impairment. AJNR Am J Neuroradiol 2016 ; 37 : 223-7
PubMed
21) Charidimou A, Peeters AP, Jager R, et al : Cortical superficial siderosis and intracerebral hemorrhage risk in cerebral amyloid angiopathy. Neurology 2013 ; 81 : 1666-73
 
22) Greenberg SM, Charidimou A : Diagnosis of Cerebral Amyloid Angiopathy : Evolution of the Boston Criteria. Stroke 2018 ; 49 : 491-7
 
23) Holland CM, Smith EE, Csapo I, et al : Spatial distribution of white-matter hyperintensities in Alzheimer disease, cerebral amyloid angiopathy, and healthy aging. Stroke 2008 ; 39 : 1127-33
 
24) Charidimou A, Boulouis G, Gurol ME, et al : Emerging concepts in sporadic cerebral amyloid angiopathy. Brain 2017 ; 140 : 1829-50
 
25) Takeda S, Sato N, Uchio-Yamada K, et al : Diabetes-accelerated memory dysfunction via cerebrovascular inflammation and Abeta deposition in an Alzheimer mouse model with diabetes. Proc Natl Acad Sci USA 2010 ; 107 : 7036-41
 
26) Kruyer A, Soplop N, Strickland S, et al : Chronic Hypertension Leads to Neurodegeneration in the TgSwDI Mouse Model of Alzheimer's Disease. Hypertension. 2015 ; 66 : 175-82
 
27) Inoue Y, Ueda M, Masuda T, et al : Memantine, a Noncompetitive N-Methyl-D-Aspartate Receptor Antagonist, Attenuates Cerebral Amyloid Angiopathy by Increasing Insulin-Degrading Enzyme Expression. Mol Neurobiol 2019 ; 56 : 8573-88
 
28) Mendelow AD, Gregson BA, Fernandes HM, et al : Early surgery versus initial conservative treatment in patients with spontaneous supratentorial intracerebral haematomas in the International Surgical Trial in Intracerebral Haemorrhage (STICH) : a randomised trial. Lancet 2005 ; 365 : 387-97
 
29) Mendelow AD, Gregson BA, Rowan EN, et al : Early surgery versus initial conservative treatment in patients with spontaneous supratentorial lobar intracerebral haematomas (STICH II) : a randomised trial. Lancet 2013 ; 382 : 397-408
 
30) Richards DB, Cookson LM, Berges AC, et al : Therapeutic Clearance of Amyloid by Antibodies to Serum Amyloid P Component. N Engl J Med 2015 ; 373 : 1106-14
 
31) Inoue Y, Ueda M, Tasaki M, et al : Sushi repeat-containing protein 1 : a novel disease-associated molecule in cerebral amyloid angiopathy. Acta Neuropathol 2017 ; 134 : 605-17
 
32) Endo Y, Hasegawa K, Nomura R, et al : Apolipoprotein E and clusterin inhibit the early phase of amyloid-β aggregation in an in vitro model of cerebral amyloid angiopathy. Acta Neuropathol Commun 2019 ; 7 : 12
 
P.101 掲載の参考文献
1) Merlini G, Dispenzieri A, Sanchorawala V, et al : Systemic immunoglobulin light chain amyloidosis. Nat Rev Dis Primers 2018 ; 4 : 38
PubMed
2) Vaxman I, Gertz M : Recent advances in the diagnosis, risk stratification, and management of systemic light-chain amyloidosis. Acta Haematol 2019 ; 141 : 93-106
 
3) Palladini G, Merlini G : What is new in diagnosis and management of light chain amyloidosis? Blood 2016 ; 128 : 159-68
 
4) Shimazaki C, Hata H, Iida S, et al : Nationwide survey of 741 patients with systemic amyloid lightchain amyloidosis in Japan. Intern Med 2018 ; 57 : 181-7
 
5) Muchtar E, Gertz MA, Kyle RA, et al : A modern primer on light chain amyloidosis in 592 patients with mass spectrometry-verified typing. Mayo Clin Proc 2019 ; 94 : 472-83
 
6) Obici L, Perfetti V, Palladini G, et al : Clinical aspects of systemic amyloid diseases. Biochim Biophys Acta 2005 ; 1753 : 11-22
 
7) Matsuda M, Gono T, Morita H, et al : Peripheral nerve involvement in primary systemic AL amyloidosis : a clinical and electrophysiological study. Eur J Neurol 2011 ; 18 : 604-10
 
8) Mahmood S, Bridoux F, Venner CP, et al : Natural history and outcomes in localised immunoglobulin light-chain amyloidosis : a long-term observational study. Lancet Haematol 2015 ; 2 : e241-50
PubMed
9) Kourelis TV, Kyle RA, Dingli D, et al : Presentation and outcomes of localized immunoglobulin light chain amyloidosis : The Mayo clinic experience. Mayo Clin Proc 2017 ; 92 : 908-17
 
10) Zhang KW, Stockerl-Goldstein KE, Lenihan DJ : Emerging therapeutics for the treatment of light chain and transthyretin amyloidosis. JACC Basic Transl Sci 2019 ; 4 : 438-48
 

III章 アミロイドーシス診断・病態解析の新たな視点

P.108 掲載の参考文献
1) Maleszewski JJ : Cardiac amyloidosis : pathology, nomenclature, and typing. Cardiovasc Pathol 2015 ; 24 : 343-50
 
2) Muchtar E, Gertz MA, Kyle RA, at al : A Modern Primer on Light Chain Amyloidosis in 592 Patients With Mass Spectrometry-Verified Typing. Mayo Clin Proc 2019 ; 94 : 472-83
 
3) Ng B, Connors LH, Davidoff R, et al : Senile systemic amyloidosis presenting with heart failure : a comparison with light chain-associated amyloidosis. Arch Intern Med 2005 ; 165 : 1425-9
 
4) Brenner DA, Jain M, Pimentel DR, et al : Human amyloidogenic light chains directly impair cardiomyocyte function through an increase in cellular oxidant stress. Circ Res 2004 ; 94 : 1008-10
PubMed
5) Banypersad SM, Moon JC, Whelan C, et al : Updates in cardiac amyloidosis : a review. J Am Heart Assoc 2012 ; 1 : e000364
PubMed
6) Jacobson DR, Pastore RD, Yaghoubian R, et al : Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med 1997 ; 336 : 466-73
 
7) Sueyoshi T, Ueda M, Jono H, et al : Wild-type transthyretin-derived amyloidosis in various ligaments and tendons. Hum Pathol 2011 ; 42 : 1259-64
 
8) Yanagisawa A, Ueda M, Sueyoshi T, et al : Amyloid deposits derived from transthyretin in the ligamentum flavum as related to lumbar spinal canal stenosis. Mod Pathol 2015 ; 28 : 201-7
 
9) Geller HI, Singh A, Alexander KM, et al : Association Between Ruptured Distal Biceps 9) Tendon and Wild-Type Transthyretin Cardiac Amyloidosis. JAMA 2017 ; 318 : 962-3
 
10) Ruberg FL, Grogan M, Hanna M, et al : Transthyretin Amyloid Cardiomyopathy : JACC 10) State-of-the-Art Review. J Am Coll Cardiol 2019 ; 73 : 2872-91
 
11) Takayama F, Miyazaki S, Morita T, et al : Dialysis-related amyloidosis of the heart in long-term hemodialysis patients. Kidney Int Suppl 2001 ; 78 : 172-6
 
12) 松原堅, 梶川隆, 蓮井雅浩, 他 : 心アミロイドーシスの心エコー図所見. 心臓 1989 ; 21 : 567-73
 
13) 斎藤司, 井上紳, 安藤治憲, 他 : 心アミロイドーシスにおける臨床所見と病理所見の対比. 心臓 1995 ; 27 : 609-16
 
14) Ueda M, Horibata Y, Shono M, et al : Clinicopathological features of senile systemic amyloidosis : an ante- and post-mortem study. Mod Pathol 2011 ; 24 : 1533-44
PubMed
15) Mohammed SF, Mimrzoyev SA, Edwards WD, et al : Left ventricular amyloid deposition in patients with heart failure and preserved ejection fraction. JACC Heart Fail 2014 ; 2 : 113-22
 
16) Falk RH : Diagnosis and management of the cardiac amyloidoses. Circulation 2005 ; 112 : 2047-60
 
17) Roberts WC, Waller BF : Cardiac amyloidosis causing cardiac dysfunction : analysis of 54 necropsy patients. Am J Cardiol 1983 ; 52 : 137-46
 
18) Feng D, Syed IS, Martinez M, et al : Intracardiac thrombosis and anticoagulation therapy in cardiac amyloidosis. Circulation 2009 ; 119 : 2490-7
 
19) Feng D, Edwards WD, Oh JK, et al : Intracardiac thrombosis and embolism in patients with cardiac amyloidosis. Circulation 2007 ; 116 : 2420-6
 
20) Zubkov AY, Rabinstein AA, Dispenzieri A, et al : Primary systemic amyloidosis with ischemic stroke as a presenting complication : Neurology 2007 ; 69 : 1136-41
 
21) Kumar S, Dispenzieri A, Lacy MQ, et al : Revised prognostic staging system for light chain amyloidosis incorporating cardiac biomarkers and serum free light chain measurements. J Clin Oncol 2012 ; 30 : 989-95
 
22) Oda S, Utsunomiya D, Morita K, et al : Cardiovascular magnetic resonance myocardial T1 mapping to detect and quantify cardiac involvement in familial amyloid polyneuropathy. Eur Radio 2017 ; 27 : 4631-8
 
23) Oda S, Nakaura T, Utsunomiya D, et al : Clinical potential of dual-energy cardiac CT in cardiac amyloidosis. Amyloid 2019 : 26 : 91-2
 
24) Gillmore JD, Maurer MS, Falk RH, et al : Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis. Circulation 2016 ; 133 : 2404-12
PubMed
P.113 掲載の参考文献
1) 田崎雅義, 安東由喜雄 : 質量分析法を用いた新たなアミロイドーシスの診断法. 臨床化学 2012 ; 41 : 41-6
 
2) 田崎雅義, 大林光念, 安東由喜雄 : 質量分析法を用いたアミロイドーシスの診断・病態解析における新展開. 臨床病理 2016 ; 64 : 675-9
 
3) Benson MD, Buxbaum JN, Eisenberg DS, et al : Amyloid nomenclature 2018 : recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid 2018 ; 25 : 215-9
 
4) Said SM, Reynolds C, Jimenez RE, et al : Amyloidosis of the breast : predominantly AL type and over half have concurrent breast hematologic disorders. Mod Pathol 2013 ; 26 : 232-8
 
5) Rodriguez FJ, Gamez JD, Vrana JA, et al : Immunoglobulin derived depositions in the nervous system : novel mass spectrometry application for protein characterization in formalin-fixed tissues. Lab Invest 2008 ; 88 : 1024-37
 
6) Vrana JA, Gamez JD, Madden BJ, et al : Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens. Blood 2009 ; 114 : 4957-9
 
7) Tasaki M, Ueda M, Matsumoto K, et al : Clinico-histopathological and biochemical analyses of corneal amyloidosis in gelatinous drop-like corneal dystrophy. Amyloid 2015 ; 22 : 67-9
 
8) Nasr SH, Dasari S, Hasadsri L, et al : Novel Type of Renal Amyloidosis Derived from Apolipoprotein-CII, J Am Soc Nephrol 2017 ; 28 : 439-45
 
9) Valleix S, Verona G, Jourde-Chiche N, et al : D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile. Nat Commun 2016 ; 21 : 10353
 
10) Tasaki M, Ueda M, Hoshii Y, et al : A novel age-related venous amyloidosis derived from EGFcontaining fibulin-like extracellular matrix protein 1. J Pathol 2019 ; 247 : 444-55
 
11) Dasari S, Theis JD, Vrana JA, et al : Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses. J Proteome Res 2014 ; 13 : 2352-8
 
12) Mangione PP, Mazza G, Gilbertson JA et al : Increasing the accuracy of proteomic typing by decellularisation of amyloid tissue biopsies. J Proteomics 2017 ; 165 : 113-8
 
13) Winter M, Tholey A, Kristen A, et al : MALDI Mass Spectrometry Imaging : A Novel Tool for the Identification and Classification of Amyloidosis. Proteomics 2017 ; 17
PubMed
14) Kakuda N, Miyasaka T, Iwasaki N, et al : Distinct deposition of amyloid-β species in brains with Alzheimer's disease pathology visualized with MALDI imaging mass spectrometry. Acta Neuropathol Commun 2017 ; 5 : 73
 
15) Nakamura A, Kaneko N, Villemagne VL, et al : High performance plasma amyloid-β biomarkers for Alzheimer's disease. Nature 2018 ; 554 : 249-54
 
16) Kourelis T, Murray DL, Dasari S, et al : MASS-FIX may allow identification of patients at risk for light chain amyloidosis before the onset of symptoms. Am J Hematol 2018 ; 93 : E368-E370
 
17) Ando Y, Ohlsson PI, Suhr O, et al : A new simple and rapid screening method for variant transthyretin-related amyloidosis. Biochem Biophys Res Commun 1996 ; 228 : 480-3
 
18) Terazaki H, Ando Y, Misumi S, et al : A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels. Biochem Biophys Res Commun 1999 ; 264 : 365-70
 
19) Tachibana N, Tokuda T, Yoshida K, et al : Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid 1999 ; 6 : 282-8
 
20) Ueda M, Misumi Y, Mizuguchi M, et al : SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy. Clin Chem 2009 ; 55 : 1223-7
 
21) Tasaki M, Ueda M, Obayashi K, et al : Rapid detection of wild-type and mutated transthyretins. Ann Clin Biochem 2016 ; 53 : 508-10
 
22) Nomura T, Ueda M, Tasaki M, et al : New simple and quick method to analyze serum variant transthyretins : direct MALDI method for the screening of hereditary transthyretin amyloidosis. Orphanet J Rare Dis 2019 ; 14 : 116
PubMed
P.119 掲載の参考文献
1) Yamashita T, Ando Y, Okamoto S, et al : Long-term survival after liver transplantation in patients with familial amyloid polyneuropathy. Neurology 2012 ; 78 : 637-43
PubMed
2) Ando Y, Ando E, Tanaka Y, et al : De novo amyloid synthesis in ocular tissue in familial amyloidotic polyneuropathy after liver transplantation. Transplantation 1996 ; 62 : 1037-8
 
3) Oshima T, Kawahara S, Ueda M, et al : Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation. J Neurol Neurosurg Psychiatry 2014 ; 85 : 740-6
 
4) Costa PP, Figueira AS, Bravo FR : Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy. Proc Natl Acad Sci U S A 1978 ; 75 : 4499-503
 
5) Johnson SM, Connelly S, Fearns C, et al : The transthyretin amyloidoses : from delineating the molecular mechanism of aggregation linked to pathology to a regulatory-agency-approved drug. J Mol Biol 2012 ; 421 : 185-203
 
6) Coelho T, Maia LF, Martins da Silva A, et al : Tafamidis for transthyretin familial amyloid polyneuropathy : a randomized, controlled trial. Neurology 2012 ; 79 : 785-92
 
7) Ando Y, Sekijima Y, Obayashi K, et al : Effects of tafamidis treatment on transthyretin (TTR) stabilization, efficacy, and safety in Japanese patients with familial amyloid polyneuropathy (TTRFAP) with Val30Met and non-Val30Met : A phase III, open-label study. J Neurol Sci 2016 ; 362 : 266-71
 
8) Sekijima Y, Ueda M, Koike H, et al : Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan : red-flag symptom clusters and treatment algorithm. Orphanet J Rare Dis 2018 ; 13 : 6
PubMed
9) Maurer MS, Schwartz JH, Gundapaneni B, et al : Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med 2018 ; 379 : 1007-16
 
10) Sant'Anna R, Gallego P, Robinson LZ, et al : Repositioning tolcapone as a potent inhibitor of transthyretin amyloidogenesis and associated cellular toxicity. Nat Commun 2016 ; 7 : 10787
PubMed
11) Penchala SC, Connelly S, Wang Y, et al : AG10 inhibits amyloidogenesis and cellular toxicity of the familial amyloid cardiomyopathy-associated V122I transthyretin. Proc Natl Acad Sci U S A 2013 ; 110 : 9992-7
 
12) Stangou AJ, Heaton ND, Hawkins PN : Transmission of systemic transthyretin amyloidosis by means of domino liver transplantation. N Engl J Med 2005 ; 352 : 2356
PubMed
13) Misumi Y, Narita Y, Oshima T, et al : Recipient aging accelerates acquired transthyretin amyloidosis after domino liver transplantation. Liver Transpl 2016 ; 22 : 656-64
 
14) Fire A, Xu S, Montgomery MK, et al : Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature 1998 ; 391 : 806-11
 
15) Coelho T, Adams D, Silva A, et al : Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl J Med 2013 ; 369 : 819-29
 
16) Adams D, Gonzalez-Duarte A, O'Riordan WD, et al : Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med 2018 ; 379 : 11-21
 
17) Solomon SD, Adams D, Kristen A, et al : Effects of Patisiran, an RNA Interference Therapeutic, on Cardiac Parameters in Patients with Hereditary Transthyretin-Mediated Amyloidosis. Circulation 2019 ; 139 : 431-43
 
18) Benson MD, Waddington-Cruz M, Berk JL, et al : Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis. N Engl J Med 2018 ; 379 : 22-31
 
19) Lozeron P, Theaudin M, Mincheva Z, et al : Effect on disability and safety of Tafamidis in late onset of Met30 transthyretin familial amyloid polyneuropathy. Eur J Neurol 2013 ; 20 : 1539-45
PubMed
20) Hosoi A, Su Y, Torikai M, et al : Novel Antibody for the Treatment of Transthyretin Amyloidosis. J Biol Chem 2016 ; 291 : 25096-105
 
21) Higaki JN, Chakrabartty A, Galant NJ, et al : Novel conformation-specific monoclonal antibodies against amyloidogenic forms of transthyretin. Amyloid 2016 ; 23 : 86-97
 
22) Galant NJ, Bugyei-Twum A, Rakhit R, et al : Substoichiometric inhibition of transthyretin misfolding by immune-targeting sparsely populated misfolding intermediates : a potential diagnostic and therapeutic for TTR amyloidoses. Sci Rep 2016 ; 6 : 25080
PubMed
23) Ueda M, Okada M, Mizuguchi M, et al : A cell-based high-throughput screening method to directly examine transthyretin amyloid fibril formation at neutral pH. J Biol Chem 2019 ; 294 : 11259-75
 
24) Finn JD, Smith AR1, Patel MC, et al : A Single Administration of CRISPR/Cas9 Lipid Nanoparticles Achieves Robust and Persistent In Vivo Genome Editing. Cell Rep 2018 ; 22 : 2227-35
 

書評

最近チェックした商品履歴

Loading...