598
Views
19
CrossRef citations to date
0
Altmetric
Reviews

Current and future treatment of amyloid neuropathies

, , , , &

References

  • Adams D. Hereditary and acquired amyloid neuropathies. J Neurol 2001;248(8):647-57
  • Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007;36(4):411-23
  • Rowczenio DM, Noor I, Gillmore JD, et al. Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Hum Mutat 2014;35(9):E2403-12
  • Coutinho P, Silva A, Lima J. Forty years of experience with type I amyloid neuropathy. Review of 483 cases. In: Amyloid and amyloidosis edn. Edited by Glenner GG, Freitas A, Amsterdam: Excerpta Medica; 1980. 88-98
  • Sousa A, Coelho T, Barros J, Sequeiros J. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (north of Portugal). Am J Med Genet 1995;60(6):512-21
  • Koike H, Misu K, Ikeda S, et al. Study Group for Hereditary Neuropathy in J. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol 2002;59(11):1771-6
  • Reilly MM, Adams D, Booth DR, et al. Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain 1995;118(Pt 4):849-56
  • Holmgren G, Ericzon BG, Groth CG, et al. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet 1993;341(8853):1113-16
  • Adams D, Samuel D, Goulon-Goeau C, et al. The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. Brain 2000;123(Pt 7):1495-504
  • Adams D, Theaudin M, Cauquil C, et al. FAP neuropathy and emerging treatments. Curr Neurol Neurosci Rep 2014;14(3):435
  • Adams D, Lozeron P, Theaudin M, et al. Varied patterns of inaugural light-chain (AL) amyloid polyneuropathy: a monocentric study of 24 patients. Amyloid 2011;18(Suppl 1):98-100
  • Azoulay D, Samuel D, Castaing D, et al. Domino liver transplants for metabolic disorders: experience with familial amyloidotic polyneuropathy. J Am Coll Surg 1999;189(6):584-93
  • 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(2-3):185-203
  • Saraiva MJ, Magalhaes J, Ferreira N, Almeida MR. Transthyretin deposition in familial amyloidotic polyneuropathy. Curr Med Chem 2012;19(15):2304-11
  • Koike H, Misu K, Sugiura M, et al. Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy. Neurology 2004;63(1):129-38
  • Liepnieks JJ, Zhang LQ, Benson MD. Progression of transthyretin amyloid neuropathy after liver transplantation. Neurology 2010;75(4):324-7
  • Adams D, Lozeron P, Theaudin M, et al. Regional difference and similarity of familial amyloidosis with polyneuropathy in France. Amyloid 2012;19(Suppl 1):61-4
  • Dohrn MF, Rocken C, De Bleecker JL, et al. Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. J Neurol 2013;260(12):3093-108
  • Mathis S, Magy L, Diallo L, et al. Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy. Muscle Nerve 2012;45(1):26-31
  • Tojo K, Tsuchiya-Suzuki A, Sekijima Y, et al. Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy. Amyloid 2010;17(1):32-5
  • Salvi F, Pastorelli F, Plasmati R, et al. Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis. Amyloid 2012;19(Suppl 1):58-60
  • Arruda-Olson AM, Zeldenrust SR, Dispenzieri A, et al. Genotype, echocardiography, and survival in familial transthyretin amyloidosis. Amyloid 2013;20(4):263-8
  • Lozeron P, Lacroix C, Theaudin M, et al. An amyotrophic lateral sclerosis-like syndrome revealing anamyloid polyneuropathy associated with a novel transthyretin mutation. Amyloid 2013;20(3):188-92
  • Yang NC, Lee MJ, Chao CC, et al. Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser. Neurology 2010;75(6):532-8
  • Koike H, Tanaka F, Hashimoto R, et al. Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas. J Neurol Neurosurg Psych 2012;83(2):152-8
  • Coutinho MC, Cortez-Dias N, Cantinho G, et al. Reduced myocardial 123-iodine metaiodobenzylguanidine uptake: a prognostic marker in familial amyloid polyneuropathy. Circ Cardiovasc Imaging 2013;6(5):627-36
  • Tracy JA, Dyck PJ, Dyck PJ. Primary amyloidosis presenting as upper limb multiple mononeuropathies. Muscle Nerve 2010;41(5):710-15
  • Kumar SK, Gertz MA, Lacy MQ, et al. Recent improvements in survival in primary systemic amyloidosis and the importance of an early mortality risk score. Mayo Clin Proc 2011;86(1):12-18
  • Adams D, Lacroix C, Antonini T, et al. Symptomatic and proven de novo amyloid polyneuropathy in familial amyloid polyneuropathy domino liver recipients. Amyloid 2011;18(Suppl 1):174-7
  • Wilczek HE, Larsson M, Ericzon BG. Long-term data from the Familial Amyloidotic Polyneuropathy World Transplant Registry (FAPWTR). Amyloid 2011;18(Suppl 1):193-5
  • Yamamoto S, Wilczek HE, Nowak G, et al. Liver transplantation for familial amyloidotic polyneuropathy (FAP): a single-center experience over 16 years. Am J Transplant 2007;7(11):2597-604
  • Liepnieks JJ, Benson MD. Progression of cardiac amyloid deposition in hereditary transthyretin amyloidosis patients after liver transplantation. Amyloid 2007;14(4):277-82
  • Delahaye N, Rouzet F, Sarda L, et al. Impact of liver transplantation on cardiac autonomic denervation in familial amyloid polyneuropathy. Medicine 2006;85(4):229-38
  • Yamashita T, Ando Y, Okamoto S, et al. Effect of liver transplantation on the survival of patients with ordinary onset familial amyloid polyneuropathy in Japan. Amyloid 2011;18(Suppl 1):185-6
  • Tsuchiya-Suzuki A, Yazaki M, Sekijima Y, et al. Steady turnover of amyloid fibril proteins in gastric mucosa after liver transplantation in familial amyloid polyneuropathy. Amyloid 2013;20(3):156-63
  • 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 Psych 2014;85(7):740-6
  • Coelho T, Adams D, Silva A, et al. Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl J Med 2013;369(9):819-29
  • Ackermann EJ, Guo S, Booten S, et al. Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy. Amyloid 2012;19(Suppl 1):43-4
  • Bulawa CE, Connelly S, Devit M, et al. Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. Proc Natl Acad Sci USA 2012;109(24):9629-34
  • Coelho T, Maia LF, Silva A, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology 2012;79(8):785-92
  • Coelho T, Maia LF, Silva AM, et al. Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy. J Neurol 2013;260(11):2802-14
  • Lozeron P, Theaudin M, Mincheva Z, et al. French Network for FAP: effect on disability and safety of Tafamidis in late onset of Met30 transthyretin familial amyloid polyneuropathy. Eur J Neurol 2013;20(12):1539-45
  • Merlini G, Plante-Bordeneuve V, Judge DP, et al. Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis. J Cardiovasc Transl Res 2013;6(6):1011-20
  • Adams D, Lozeron P, Lacroix C. Amyloid neuropathies. Curr Opin Neurol 2012;25(5):564-72
  • ClinicalTrials.gov. Safety and Efficacy of Tafamidis in Patients With Transthyretin Cardiomyopathy (ATTR-ACT). Available from: https: //clinicaltrials.gov/ct2/show/NCT01994889?term=ttr+amyloid+pfizer+tafamidis&rank=5
  • Miller SR, Sekijima Y, Kelly JW. Native state stabilization by NSAIDs inhibits transthyretin amyloidogenesis from the most common familial disease variants. Lab Invest 2004;84(5):545-52
  • Berk JL, Suhr OB, Obici L, et al. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA 2013;310(24):2658-67
  • Takahashi R, Ono K, Shibata S, et al. Efficacy of diflunisal on autonomic dysfunction of late-onset familial amyloid polyneuropathy (TTR Val30Met) in a Japanese endemic area. J Neurol Sci 2014;345(1-2):231-5
  • Clinicaltrialgov. The study of an investigational drug, ALN-TTR02, for the treatment of transthyretin (TTR)-mediated amyloidosis. Available from: https://clinicaltrialsgov/ct2/show/study/NCT01960348?term=PATISIRAN&rank=2&show_locs=Y.edn
  • Phase 2 study to evaluate ALN-TTRSC in patients with transthyretin (TTR) cardiac amyloidosis. Available from: https://clinicaltrials.gov/ct2/show/NCT01981837?term=alnylam+TTR&rank=2
  • Efficacy and safety of ISIS-TTR Rx in familial amyloid polyneuropathy. Available from: https://clinicaltrialsgov/ct2/show/study/NCT01737398?term=ISIS+TTR+fap&rank=2. edn
  • Dyck PJ, Davies JL, Litchy WJ, O’Brien PC. Longitudinal assessment of diabetic polyneuropathy using a composite score in the Rochester Diabetic Neuropathy Study cohort. Neurology 1997;49(1):229-39
  • Suanprasert N, Berk JL, Benson MD, et al. Retrospective study of a TTR FAP cohort to modify NIS+7 for therapeutic trials. J Neurol Sci 2014;344(1-2):121-8
  • Rapezzi C, Quarta CC, Guidalotti PL, et al. Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis. JACC Cardiovasc Imaging 2011;4(6):659-70
  • Dorbala S, Vangala D, Semer J, et al. Imaging cardiac amyloidosis: a pilot study using (18)F-florbetapir positron emission tomography. Eur J Nucl Med Mol Imaging 2014;41(9):1652-62
  • Raichlin E, Daly RC, Rosen CB, et al. Combined heart and liver transplantation: a single-center experience. Transplantation 2009;88(2):219-25
  • Algalarrondo V, Dinanian S, Juin C, et al. Prophylactic pacemaker implantation in familial amyloid polyneuropathy. Heart Rhythm 2012;9(7):1069-75
  • Rousseau A, Kaswin G, Adams D, et al. [Ocular involvement in familial amyloid polyneuropathy]. J Fr Ophtalmol 2013;36(9):779-88
  • Sandgren O, Kjellgren D, Suhr OB. Ocular manifestations in liver transplant recipients with familial amyloid polyneuropathy. Acta Ophthalmol 2008;86(5):520-4
  • Koga T, Ando E, Hirata A, et al. Vitreous opacities and outcome of vitreous surgery in patients with familial amyloidotic polyneuropathy. Am J Ophthalmol 2003;135(2):188-93
  • Meney J, Barreau E, Mincheva Z, et al. A prospective study of ocular manifestations in transthyretin-related familial amyloid polyneuropathy. Acta Ophthalmol (Copenh) 2014;92
  • Valdrez K, Silva S, Coelho T, Alves E. Awareness and motives for use and non-use of preimplantation genetic diagnosis in familial amyloid polyneuropathy mutation carriers. Prenat Diagn 2014;34(9):886-92
  • Lemos C, Coelho T, Alves-Ferreira M, et al. Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M. J Neurol Neurosurg Psychiatry 2014;85(3):326-30
  • Theaudin M, Cauquil C, Antonini T, et al. Familial amyloid polyneuropathy: elaboration of a therapeutic patient education programme, "EdAmyl". Amyloid 2014;1-6
  • 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 USA 2013;110(24):9992-7
  • Cardoso I, Martins D, Ribeiro T, et al. Synergy of combined doxycycline/TUDCA treatment in lowering Transthyretin deposition and associated biomarkers: studies in FAP mouse models. J Transl Med 2010;8:74
  • Ferreira N, Santos SA, Domingues MR, et al. Dietary curcumin counteracts extracellular transthyretin deposition: insights on the mechanism of amyloid inhibition. Biochim Biophys Acta 2013;1832(1):39-45
  • Ferreira N, Saraiva MJ, Almeida MR. Epigallocatechin-3-gallate as a potential therapeutic drug for TTR-related amyloidosis: “in vivo” evidence from FAP mice models. PLoS One 2012;7(1):e29933
  • Bodin K, Ellmerich S, Kahan MC, et al. Antibodies to human serum amyloid P component eliminate visceral amyloid deposits. Nature 2010;468(7320):93-7
  • Su Y, Jono H, Torikai M, et al. Antibody therapy for familial amyloidotic polyneuropathy. Amyloid 2012;19(Suppl 1):45-6
  • Goncalves NP, Vieira P, Saraiva MJ. Interleukin-1 signaling pathway as a therapeutic target in transthyretin amyloidosis. Amyloid 2014;1-10
  • Rajkumar SV, Gertz MA, Kyle RA. Prognosis of patients with primary systemic amyloidosis who present with dominant neuropathy. Am J Med 1998;104(3):232-7
  • Desport E, Bridoux F, Sirac C, et al. Al amyloidosis. Orphanet J Rare Dis 2012;7:54
  • Dingli D, Tan TS, Kumar SK, et al. Stem cell transplantation in patients with autonomic neuropathy due to primary (AL) amyloidosis. Neurology 2010;74(11):913-18
  • Merlini G, Wechalekar AD, Palladini G. Systemic light chain amyloidosis: an update for treating physicians. Blood 2013;121(26):5124-30
  • Katoh N, Matsuda M, Yoshida T, et al. Primary AL amyloid polyneuropathy successfully treated with high-dose melphalan followed by autologous stem cell transplantation. Muscle Nerve 2010;41(1):138-43
  • Palladini G, Dispenzieri A, Gertz MA, et al. New criteria for response to treatment in immunoglobulin light chain amyloidosis based on free light chain measurement and cardiac biomarkers: impact on survival outcomes. J Clin Oncol 2012;30(36):4541-9
  • Llado L, Baliellas C, Casasnovas C, et al. Risk of transmission of systemic transthyretin amyloidosis after domino liver transplantation. Liver Transpl 2010;16(12):1386-92
  • Conceicao I, Evangelista T, Castro J, et al. Acquired amyloid neuropathy in a Portuguese patient after domino liver transplantation. Muscle Nerve 2010;42(5):836-9
  • Antonini TM, Lozeron P, Lacroix C, et al. Reversibility of acquired amyloid polyneuropathy after liver retransplantation. Am J Transplant 2013;13(10):2734-8
  • Safety and efficacy study of Fx-1006A in patients with familial amyloidosis. Available from: http://clinicaltrials.gov/show/NCT00409175
  • The effect of diflunisal on familial amyloidosis. Available from: http://clinicaltrials.gov/show/NCT00294671
  • The effects of Fx-1006A on transthyretin stabilization and clinical outcome measures in patients with non-V30M transthyretin amyloidosis. Available from: http://clinicaltrials.gov/show/NCT00630864

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.