Top

Published in:

Open Access 14-11-2020 | Amyloidosis | Review Article

Hereditary transthyretin amyloidosis overview

Authors: Fiore Manganelli, Gian Maria Fabrizi, Marco Luigetti, Paola Mandich, Anna Mazzeo, Davide Pareyson

Published in: Neurological Sciences | Special Issue 2/2022

Abstract

Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly inherited disorder caused by mutations in the transthyretin (TTR) gene. The pathogenetic model of ATTRv amyloidosis indicates that amyloidogenic, usually missense, mutations destabilize the native TTR favouring the dissociation of the tetramer into partially unfolded species that self-assemble into amyloid fibrils. Amyloid deposits and monomer-oligomer toxicity are the basis of multisystemic ATTRv clinical involvement. Peripheral nervous system (autonomic and somatic) and heart are the most affected sites. In the last decades, a better knowledge of pathomechanisms underlying the disease led to develop novel and promising drugs that are rapidly changing the natural history of ATTRv amyloidosis. Thus, clinicians face the challenge of timely diagnosis for addressing patients to appropriate treatment. As well, the progressive nature of ATTRv raises the issue of presymptomatic testing and risk management of carriers. The main aim of this review was to focus on what we know about ATTRv so far, from pathogenesis to clinical manifestations, diagnosis and hence patient’s monitoring and treatment, and from presymptomatic testing to management of carriers.

Schmidt HH, Waddington-Cruz M, Botteman MF, Carter JA, Chopra AS, Hopps M, Stewart M, Fallet S, Amass L (2018) Estimating the global prevalence of transthyretin familial amyloid polyneuropathy. Muscle Nerve 57:829–837. https://doi.org/10.1002/mus.26034CrossRef

Merlini G, Bellotti V (2003) Molecular mechanisms of amyloidosis. N Engl J Med 349:583–596. https://doi.org/10.1056/NEJMra023144CrossRef

Yee AW, Aldeghi M, Blakeley MP, Ostermann A, Mas PJ, Moulin M, de Sanctis D, Bowler MW, Mueller-Dieckmann C, Mitchell EP, Haertlein M, de Groot BL, Boeri Erba E, Forsyth VT (2019) A molecular mechanism for transthyretin amyloidogenesis. Nat Commun 10:925. https://doi.org/10.1038/s41467-019-08609-zCrossRef

Hou X, Aguilar MI, Small DH (2007) Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. FEBS J 274:1637–1650. https://doi.org/10.1111/j.1742-4658.2007.05712.xCrossRef

Marcoux J, Mangione PP, Porcari R et al (2015) A novel mechano-enzymatic cleavage mechanism underlies transthyretin amyloidogenesis. EMBO Mol Med 7:1337–1349. https://doi.org/10.15252/emmm.201505357CrossRef

Suhr OB, Lundgren E, Westermark P (2017) One mutation, two distinct disease variants: unravelling the impact of transthyretin amyloid fibril composition. J Intern Med 281:337–347. https://doi.org/10.1111/joim.12585CrossRef

Koike H, Nakamura T, Nishi R, Ikeda S, Kawagashira Y, Iijima M, Yasuda T, Mukai E, Date Y, Shiomi K, Nakazato M, Katsuno M, Sobue G (2019) Common clinicopathological features in late-onset hereditary transthyretin amyloidosis (Ala97Gly, Val94Gly and Val30Met). Amyloid 26:24–25. https://doi.org/10.1080/13506129.2019.1582495CrossRef

Adams D, Koike H, Slama M, Coelho T (2019) Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol 15:387–404. https://doi.org/10.1038/s41582-019-0210-4CrossRef

Russo M, Obici L, Bartolomei I, Cappelli F, Luigetti M, Fenu S, Cavallaro T, Chiappini MG, Gemelli C, Pradotto LG, Manganelli F, Leonardi L, My F, Sampaolo S, Briani C, Gentile L, Stancanelli C, di Buduo E, Pacciolla P, Salvi F, Casagrande S, Bisogni G, Calabrese D, Vanoli F, di Iorio G, Antonini G, Santoro L, Mauro A, Grandis M, di Girolamo M, Fabrizi GM, Pareyson D, Sabatelli M, Perfetto F, Rapezzi C, Merlini G, Mazzeo A, Vita G (2020) ATTRv amyloidosis Italian Registry: clinical and epidemiological data. Amyloid:1–7. https://doi.org/10.1080/13506129.2020.1794807

10.

Sekijima Y, Ueda M, Koike H, Misawa S, Ishii T, Ando Y (2018) Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm. Orphanet J Rare Dis 13:6. https://doi.org/10.1186/s13023-017-0726-xCrossRef

11.

Conceição I, De Carvalho M (2007) Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal. Muscle Nerve 35:116–118. https://doi.org/10.1002/mus.20644CrossRef

12.

Gonzalez-Duarte A (2019) Autonomic involvement in hereditary transthyretin amyloidosis (hATTR amyloidosis). Clin Auton Res 29:245–251. https://doi.org/10.1007/s10286-018-0514-2CrossRef

13.

Rapezzi C, Quarta CC, Obici L, Perfetto F, Longhi S, Salvi F, Biagini E, Lorenzini M, Grigioni F, Leone O, Cappelli F, Palladini G, Rimessi P, Ferlini A, Arpesella G, Pinna AD, Merlini G, Perlini S (2013) Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J 34:520–528. https://doi.org/10.1093/eurheartj/ehs123CrossRef

14.

Suhr OB, Wixner J, Anan I, Lundgren HE, Wijayatunga P, Westermark P, Ihse E (2019) Amyloid fibril composition within hereditary Val30Met (p. Val50Met) transthyretin amyloidosis families. PLoS One 14(2):e0211983. https://doi.org/10.1371/journal.pone.0211983CrossRef

15.

Parman Y, Adams D, Obici L, Galán L, Guergueltcheva V, Suhr OB, Coelho T, European Network for TTR-FAP (ATTReuNET) (2016) Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP. Curr Opin Neurol 29(Suppl 1):S3–S13. https://doi.org/10.1097/WCO.0000000000000288CrossRef

16.

Samões R, Taipa R, Valdrez K, Gonçalves I, Melo Pires M, Martins da Silva A, Coelho T (2017) Amyloid detection in the transverse carpal ligament of patients with hereditary ATTR V30M amyloidosis and carpal tunnel syndrome. Amyloid 24:73–77. https://doi.org/10.1080/13506129.2017.1313222CrossRef

17.

Coutinho PM, Lázaro da Silva A, Lopes J et al (1980) Forty years of experience with type I amyloid neuropathy. Review of 483 cases. In: Glenner GG, Pinho e Costa P, Falcao de Freitas A (eds) Amyloid and Amyloidosis. Excerpta Medica, Amsterdam, pp 88–98

18.

Lobato L, Rocha A (2012) Transthyretin amyloidosis and the kidney. Clin J Am Soc Nephrol 7:1337–1346. https://doi.org/10.2215/CJN.08720811CrossRef

19.

Dammacco R, Merlini G, Lisch W, Kivelä TT, Giancipoli E, Vacca A, Dammacco F (2020) Amyloidosis and ocular involvement: an overview. Semin Ophthalmol 35:7–26. https://doi.org/10.1080/08820538.2019.1687738CrossRef

20.

Mathieu F, Morgan E, So J, Munoz DG, Mason W, Kongkham P (2018) Oculoleptomeningeal amyloidosis secondary to the rare transthyretin c.381T>G (p.Ile127Met) mutation. World Neurosurg 111:190–193. https://doi.org/10.1016/j.wneu.2017.12.096CrossRef

21.

Beckius S, Shah K (2018) Intracranial and systemic manifestations of familial leptomeningeal amyloidosis, as seen on CT and MRI. Radiol Case Rep 13:1179–1184. https://doi.org/10.1016/j.radcr.2018.07.030CrossRef

22.

Koike H, Misu K, Sugiura M, Iijima M, Mori K, Yamamoto M, Hattori N, Mukai E, Ando Y, Ikeda S, Sobue G (2004) Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy. Neurology 63(1):129–138. https://doi.org/10.1212/01.wnl.0000132966.36437.12CrossRef

23.

Oaklander AL, Nolano M (2019) Scientific Advances in and Clinical Approaches to Small-Fiber Polyneuropathy: A Review. JAMA Neurol 76:1240. https://doi.org/10.1001/jamaneurol.2019.2917CrossRef

24.

Pasnoor M, Gordon SA (2019) When should you order genetic testing for patients with cryptogenic neuropathy? Let the data do the talking. Muscle Nerve 59:280–282. https://doi.org/10.1002/mus.26409CrossRef

25.

Nold CS, Nozaki K (2020) Peripheral neuropathy: clinical pearls for making the diagnosis. JAAPA 33:9–15CrossRef

26.

Planté-Bordeneuve V, Ferreira A, Lalu T et al (2007) Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology 69:693–698. https://doi.org/10.1212/01.wnl.0000267338.45673.f4CrossRef

27.

Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G (2020) Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. https://doi.org/10.1007/s00415-019-09688-0

28.

Conceição I, González-Duarte A, Obici L, Schmidt HHJ, Simoneau D, Ong ML, Amass L (2016) "Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst 21:5–9. https://doi.org/10.1111/jns.12153CrossRef

29.

Cortese A, Vegezzi E, Lozza A, Alfonsi E, Montini A, Moglia A, Merlini G, Obici L (2017) Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy. J Neurol Neurosurg Psychiatry 88:457–458. https://doi.org/10.1136/jnnp-2016-315262CrossRef

30.

Lozeron P, Mariani LL, Dodet P, Beaudonnet G, Théaudin M, Adam C, Arnulf B, Adams D (2018) Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy. Neurology 91(2):e143–e152. https://doi.org/10.1212/WNL.0000000000005777CrossRef

31.

Mathis S, Magy L, Diallo L, Boukhris S, Vallat JM (2012) Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy. Muscle Nerve 45:26–31. https://doi.org/10.1002/mus.22229CrossRef

32.

Ohashi N, Kodaira M, Morita H, Sekijima Y (2019) Electrophysiological demyelinating features in hereditary ATTR amyloidosis. Amyloid 26:15–23. https://doi.org/10.1080/13506129.2018.1564903CrossRef

33.

Joint Task Force of the EFNS and the PNS (2010) European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society-First Revision [published correction appears in J Peripher Nerv Syst 2010;15:373]. J Peripher Nerv Syst 15:1–9. https://doi.org/10.1111/j.1529-8027.2010.00245.xCrossRef

34.

Planté-Bordeneuve V, Said G (2011) Familial amyloid polyneuropathy. Lancet Neurol 10:1086–1097. https://doi.org/10.1016/S1474-4422(11)70246-0CrossRef

35.

Masuda T, Ueda M, Suenaga G, Misumi Y, Tasaki M, Izaki A, Yanagisawa Y, Inoue Y, Motokawa H, Matsumoto S, Mizukami M, Arimura A, Deguchi T, Nishio Y, Yamashita T, Inomata Y, Obayashi K, Ando Y (2017) Early skin denervation in hereditary and iatrogenic transthyretin amyloid neuropathy. Neurology 88:2192–2197. https://doi.org/10.1212/WNL.0000000000004016CrossRef

36.

Ebenezer GJ, Liu Y, Judge DP, Cunningham K, Truelove S, Carter ND, Sebastian B, Byrnes K, Polydefkis M (2017) Cutaneous nerve biomarkers in transthyretin familial amyloid polyneuropathy. Ann Neurol 82:44–56. https://doi.org/10.1002/ana.24972CrossRef

37.

Briani C, Fabrizi GM, Ruggero S, Torre CD, Ferrarini M, Campagnolo M, Cavallaro T, Ferrari S, Scarlato M, Taioli F, Adami F (2011) Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias. Muscle Nerve 43:164–167. https://doi.org/10.1002/mus.21872CrossRef

38.

Phull P, Sanchorawala V, Connors LH, Doros G, Ruberg FL, Berk JL, Sarosiek S (2018) Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR). Amyloid 25:62–67. https://doi.org/10.1080/13506129.2018.1436048CrossRef

39.

Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, Wechalekar AD, Berk JL, Quarta CC, Grogan M, Lachmann HJ, Bokhari S, Castano A, Dorbala S, Johnson GB, Glaudemans AWJM, Rezk T, Fontana M, Palladini G, Milani P, Guidalotti PL, Flatman K, Lane T, Vonberg FW, Whelan CJ, Moon JC, Ruberg FL, Miller EJ, Hutt DF, Hazenberg BP, Rapezzi C, Hawkins PN (2016) Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation 133:2404–2412. https://doi.org/10.1161/CIRCULATIONAHA.116.021612CrossRef

40.

Musumeci MB, Cappelli F, Russo D, Tini G, Canepa M, Milandri A, Bonfiglioli R, di Bella G, My F, Luigetti M, Grandis M, Autore C, Perlini S, Perfetto F, Rapezzi C (2020) Low sensitivity of bone scintigraphy in detecting Phe64Leu mutation-related transthyretin cardiac amyloidosis. JACC Cardiovasc Imaging 13:1314–1321. https://doi.org/10.1016/j.jcmg.2019.10.015CrossRef

41.

Dyck PJB, González-Duarte A, Obici L, Polydefkis M, Wiesman JF, Antonino I, Litchy WJ, Dyck PJ (2019) Development of measures of polyneuropathy impairment in hATTR amyloidosis: from NIS to mNIS + 7. J Neurol Sci 405:116424. https://doi.org/10.1016/j.jns.2019.116424CrossRef

42.

Adams D, Suhr OB, Dyck PJ, Litchy WJ, Leahy RG, Chen J, Gollob J, Coelho T (2017) Trial design and rationale for APOLLO, a Phase 3, placebo-controlled study of patisiran in patients with hereditary ATTR amyloidosis with polyneuropathy. BMC Neurol 17:181. https://doi.org/10.1186/s12883-017-0948-5CrossRef

43.

Adams D, Gonzalez-Duarte A, O'Riordan WD et al (2018) Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med 379:11–21. https://doi.org/10.1056/NEJMoa1716153CrossRef

44.

Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, Planté-Bordeneuve V, Barroso FA, Merlini G, Obici L, Scheinberg M, Brannagan TH III, Litchy WJ, Whelan C, Drachman BM, Adams D, Heitner SB, Conceição I, Schmidt HH, Vita G, Campistol JM, Gamez J, Gorevic PD, Gane E, Shah AM, Solomon SD, Monia BP, Hughes SG, Kwoh TJ, McEvoy BW, Jung SW, Baker BF, Ackermann EJ, Gertz MA, Coelho T (2018) Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med 379:22–31. https://doi.org/10.1056/NEJMoa1716793CrossRef

45.

Vita GL, Stancanelli C, Gentile L, Barcellona C, Russo M, di Bella G, Vita G, Mazzeo A (2019) 6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR). Neuromuscul Disord 29:213–220. https://doi.org/10.1016/j.nmd.2018.11.002CrossRef

46.

Luigetti M, Romano A, Di Paolantonio A, Bisogni G, Sabatelli M (2020) Diagnosis and treatment of hereditary transthyretin amyloidosis (hATTR) polyneuropathy: current perspectives on improving patient care. Ther Clin Risk Manag 16:109–123. https://doi.org/10.2147/TCRM.S219979CrossRef

47.

Luigetti M, Bisogni G, Romano A, di Paolantonio A, Barbato F, Primicerio G, Rossini PM, Servidei S, Sabatelli M (2018) Sudoscan in the evaluation and follow-up of patients and carriers with TTR mutations: experience from an Italian Centre. Amyloid 25:242–246. https://doi.org/10.1080/13506129.2018.1545640CrossRef

48.

Niklasson U, Olofsson BO, Bjerle P (1989) Autonomic neuropathy in familial amyloidotic polyneuropathy. A clinical study based on heart rate variability. Acta Neurol Scand 79:182–187. https://doi.org/10.1111/j.1600-0404.1989.tb03736.xCrossRef

49.

Lehrke S, Steen H, Kristen AV, Merten C, Lossnitzer D, Dengler TJ, Katus HA, Giannitsis E (2009) Serum levels of NT-proBNP as surrogate for cardiac amyloid burden: new evidence from gadolinium-enhanced cardiac magnetic resonance imaging in patients with amyloidosis. Amyloid 16:187–195. https://doi.org/10.3109/13506120903421538CrossRef

50.

Martins AC, Rosa AM, Costa E, Tavares C, Quadrado MJ, Murta JN (2015) Ocular manifestations and therapeutic options in patients with familial amyloid polyneuropathy: a systematic review. Biomed Res Int 2015:282405–282409. https://doi.org/10.1155/2015/282405CrossRef

51.

Suhr O, Danielsson A, Holmgren G, Steen L (1994) Malnutrition and gastrointestinal dysfunction as prognostic factors for survival in familial amyloidotic polyneuropathy. J Intern Med 235:479–485. https://doi.org/10.1111/j.1365-2796.1994.tb01106.xCrossRef

52.

Mandich P, Lamp M, Gotta F, Gulli R, Iacometti A, Marchese R, Bellone E, Abbruzzese G, Ferrandes G (2017) 1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa. Mol Genet Genomic Med 5:473–480. https://doi.org/10.1002/mgg3.238CrossRef

53.

Paneque M, Félix J, Mendes Á et al (2019) Twenty years of a pre-symptomatic testing protocol for late-onset neurological diseases in Portugal. Acta Medica Port 32:295–304. https://doi.org/10.20344/amp.10526CrossRef

54.

Obici L, Kuks JB, Buades J, Adams D, Suhr OB, Coelho T, Kyriakides T, European Network for TTR-FAP (ATTReuNET) (2016) Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Curr Opin Neurol 29(Suppl 1):S27–S35. https://doi.org/10.1097/WCO.0000000000000290CrossRef

55.

Conceição I, Damy T, Romero M, Galán L, Attarian S, Luigetti M, Sadeh M, Sarafov S, Tournev I, Ueda M (2019) Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations. Amyloid 26:3–9. https://doi.org/10.1080/13506129.2018.1556156CrossRef

56.

Benatar M, Stanislaw C, Reyes E, Hussain S, Cooley A, Fernandez MC, Dauphin DD, Michon SC, Andersen PM, Wuu J (2016) Presymptomatic ALS genetic counseling and testing: experience and recommendations. Neurology 86:2295–2302. https://doi.org/10.1212/WNL.0000000000002773CrossRef

57.

Vita GL, Aguennouz M, Polito F et al (2020) Circulating microRNAs profile in patients with transthyretin variant amyloidosis. Front Mol Neurosci 13:102. https://doi.org/10.3389/fnmol.2020.00102CrossRef

58.

Vita G, Vita GL, Stancanelli C, Gentile L, Russo M, Mazzeo A (2019) Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies. Neurol Sci 40:661–669. https://doi.org/10.1007/s10072-019-03778-7CrossRef

59.

Müller ML, Butler J, Heidecker B (2020) Emerging therapies in transthyretin amyloidosis - a new wave of hope after years of stagnancy? Eur J Heart Fail 22:39–53. https://doi.org/10.1002/ejhf.1695CrossRef

60.

Benson MD (2013) Liver transplantation and transthyretin amyloidosis. Muscle Nerve 47:157–162. https://doi.org/10.1002/mus.23521CrossRef

61.

Coelho T, Maia LF, da Silva AM, Cruz MW, Planté-Bordeneuve V, Suhr OB, Conceiçao I, Schmidt HHJ, Trigo P, Kelly JW, Labaudinière R, Chan J, Packman J, Grogan DR (2013) Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy. J Neurol 260:2802–2814. https://doi.org/10.1007/s00415-013-7051-7CrossRef

62.

Cortese A, Vita G, Luigetti M, Russo M, Bisogni G, Sabatelli M, Manganelli F, Santoro L, Cavallaro T, Fabrizi GM, Schenone A, Grandis M, Gemelli C, Mauro A, Pradotto LG, Gentile L, Stancanelli C, Lozza A, Perlini S, Piscosquito G, Calabrese D, Mazzeo A, Obici L, Pareyson D (2016) Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area. J Neurol 263:916–924. https://doi.org/10.1007/s00415-016-8064-9CrossRef

63.

Barroso FA, Judge DP, Ebede B, Li H, Stewart M, Amass L, Sultan MB (2017) Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years. Amyloid 24:194–204. https://doi.org/10.1080/13506129.2017.1357545CrossRef

64.

Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, Kristen AV, Grogan M, Witteles R, Damy T, Drachman BM, Shah SJ, Hanna M, Judge DP, Barsdorf AI, Huber P, Patterson TA, Riley S, Schumacher J, Stewart M, Sultan MB, Rapezzi C, ATTR-ACT Study Investigators (2018) Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med 379:1007–1016. https://doi.org/10.1056/NEJMoa1805689CrossRef

65.

Berk JL, Suhr OB, Obici L, Sekijima Y, Zeldenrust SR, Yamashita T, Heneghan MA, Gorevic PD, Litchy WJ, Wiesman JF, Nordh E, Corato M, Lozza A, Cortese A, Robinson-Papp J, Colton T, Rybin DV, Bisbee AB, Ando Y, Ikeda S, Seldin DC, Merlini G, Skinner M, Kelly JW, Dyck PJ, Diflunisal Trial Consortium (2013) Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA 310:2658–2667. https://doi.org/10.1001/jama.2013.283815CrossRef

66.

Sekijima Y, Tojo K, Morita H, Koyama J, Ikeda S (2015) Safety and efficacy of long-term diflunisal administration in hereditary transthyretin (ATTR) amyloidosis. Amyloid 22:79–83. https://doi.org/10.3109/13506129.2014.997872CrossRef

67.

Takahashi R, Ono K, Shibata S, Nakamura K, Komatsu J, Ikeda Y, Ikeda T, Samuraki M, Sakai K, Iwasa K, Kayano D, Yamada M (2014) Efficacy of diflunisal on autonomic dysfunction of late-onset familial amyloid polyneuropathy (TTR Val30Met) in a Japanese endemic area. J Neurol Sci 345:231–235. https://doi.org/10.1016/j.jns.2014.07.017CrossRef

68.

Ferreira N, Saraiva MJ, Almeida MR (2012) Epigallocatechin-3-gallate as a potential therapeutic drug for TTR-related amyloidosis: "in vivo" evidence from FAP mice models. PLoS One 7:e29933. https://doi.org/10.1371/journal.pone.0029933CrossRef

69.

Kristen AV, Lehrke S, Buss S, Mereles D, Steen H, Ehlermann P, Hardt S, Giannitsis E, Schreiner R, Haberkorn U, Schnabel PA, Linke RP, Röcken C, Wanker EE, Dengler TJ, Altland K, Katus HA (2012) Green tea halts progression of cardiac transthyretin amyloidosis: an observational report. Clin Res Cardiol 101:805–813. https://doi.org/10.1007/s00392-012-0463-zCrossRef

70.

aus dem Siepen F, Buss SJ, Andre F et al (2015) Extracellular remodeling in patients with wild-type amyloidosis consuming epigallocatechin-3-gallate: preliminary results of T1 mapping by cardiac magnetic resonance imaging in a small single center study. Clin Res Cardiol 104:640–647. https://doi.org/10.1007/s00392-015-0826-3CrossRef

71.

Pinheiro F, Varejão N, Esperante S, Santos J, Velázquez-Campoy A, Reverter D, Pallarès I, Ventura S (2020) Tolcapone, a potent aggregation inhibitor for the treatment of familial leptomeningeal amyloidosis. FEBS J. https://doi.org/10.1111/febs.15339

72.

Fox JC, Hellawell JL, Rao S, O'Reilly T, Lumpkin R, Jernelius J, Gretler D, Sinha U (2020) First-in-human study of AG10, a novel, oral, specific, selective, and potent transthyretin stabilizer for the treatment of transthyretin amyloidosis: a phase 1 safety, tolerability, pharmacokinetic, and pharmacodynamic study in healthy adult volunteers. Clin Pharmacol Drug Dev 9:115–129. https://doi.org/10.1002/cpdd.700CrossRef

73.

Finn JD, Smith AR, Patel MC, Shaw L, Youniss MR, van Heteren J, Dirstine T, Ciullo C, Lescarbeau R, Seitzer J, Shah RR, Shah A, Ling D, Growe J, Pink M, Rohde E, Wood KM, Salomon WE, Harrington WF, Dombrowski C, Strapps WR, Chang Y, Morrissey DV (2018) A single administration of CRISPR/Cas9 lipid nanoparticles achieves robust and persistent in vivo genome editing. Cell Rep 22:2227–2235. https://doi.org/10.1016/j.celrep.2018.02.014CrossRef

74.

Cardoso I, Martins D, Ribeiro T, Merlini G, Saraiva MJ (2010) Synergy of combined doxycycline/TUDCA treatment in lowering transthyretin deposition and associated biomarkers: studies in FAP mouse models. J Transl Med 8:74. https://doi.org/10.1186/1479-5876-8-74CrossRef

75.

Obici L, Cortese A, Lozza A, Lucchetti J, Gobbi M, Palladini G, Perlini S, Saraiva MJ, Merlini G (2012) Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study. Amyloid 19(Suppl 1):34–36. https://doi.org/10.3109/13506129.2012.678508CrossRef

76.

Ando Y, Ueda M (2017) Antibody therapy for transthyretin-related hereditary amyloid polyneuropathy: another therapeutic option. Amyloid 24:113–114. https://doi.org/10.1080/13506129.2017.1293514CrossRef

77.

Richards DB, Cookson LM, Barton SV et al (2018) Repeat doses of antibody to serum amyloid P component clear amyloid deposits in patients with systemic amyloidosis. Sci Transl Med 10(422):eaan3128. https://doi.org/10.1126/scitranslmed.aan3128CrossRef

Title: Hereditary transthyretin amyloidosis overview
Authors: Fiore Manganelli
Gian Maria Fabrizi
Marco Luigetti
Paola Mandich
Anna Mazzeo
Davide Pareyson
Publication date: 14-11-2020
Publisher: Springer International Publishing
Keyword: Amyloidosis
Published in: Neurological Sciences / Issue Special Issue 2/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-020-04889-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Hereditary transthyretin amyloidosis overview

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Special Issue 2/2022

2020 Joint conference of the Italian Association of Miology (AIM) and the Italian Association for the study of the Peripheral Nervous System (ASNP), Abstracts

Spinal muscular atrophy: state of the art and new therapeutic strategies

Update on therapy of chronic immune-mediated neuropathies

Preface

Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy