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(7):387–404
CAS
PubMed
PubMed Central
Google Scholar
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
CAS
PubMed
PubMed Central
Google Scholar
Saraiva MJ, Birken S, Costa PP, Goodman DS (1984) Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin). J Clin Investig 74:104–119
CAS
PubMed
Google Scholar
Hawkins PN, Ando Y, Dispenzeri A, Gonzalez-Duarte A, Adams D, Suhr OB (2015) Evolving landscape in the management of transthyretin amyloidosis. Ann Med 47:625–638
CAS
PubMed
PubMed Central
Google Scholar
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
CAS
PubMed
Google Scholar
Castano A, Drachman BM, Judge D, Maurer MS (2015) Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs. Heart Fail Rev 20:163–178
CAS
PubMed
PubMed Central
Google Scholar
Coutinho P, Martins da Silva A, Lopas LJ (1980) Forty years of experience with type 1 amyloid neuropathy. Review of 483 cases. In: Amyloid and amyloidosis. Excerpta Medica, Amsterdam, pp 88–98
Koike H, Tanaka F, Hashimoto R, Tomita M, Kawagashira Y, Iijima M, Fujitake J, Kawanami T, Kato T, Yamamoto M, Sobue G (2012) Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas. J Neurol Neurosurg Psychiatry 83:152–158
PubMed
PubMed Central
Google Scholar
Andrade C (1952) A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 75:408–427
CAS
PubMed
PubMed Central
Google Scholar
Rowczenio DM, Noor I, Gillmore JD, Lachmann HJ, Whelan C, Hawkins PN, Obici L, Westermark P, Grateau G, Wechalekar AD (2014) Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Hum Mutat 35:E2403–2412
CAS
PubMed
Google Scholar
Maurer MS, Bokhari S, Damy T, Dorbala S, Drachman BM, Fontana M, Grogan M, Kristen AV, Lousada I, Nativi-Nicolau J, Cristina Quarta C, Rapezzi C, Ruberg FL, Witteles R, Merlini G (2019) Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis. Circ Heart Fail 12:e006075
PubMed
PubMed Central
Google Scholar
Adams D, Cauquil C, Labeyrie C, Beaudonnet G, Algalarrondo V, Theaudin M (2016) TTR kinetic stabilizers and TTR gene silencing: a new era in therapy for familial amyloidotic polyneuropathies. Expert Opin Pharmacother 17:791–802
CAS
PubMed
Google Scholar
Adams D, Lozeron P, Lacroix C (2012) Amyloid neuropathies. Curr Opin Neurol 25:564–572
CAS
PubMed
Google Scholar
Plante-Bordeneuve V, Carayol J, Ferreira A, Adams D, Clerget-Darpoux F, Misrahi M, Said G, Bonaiti-Pellie C (2003) Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families. J Med Genet 40:e120
CAS
PubMed
PubMed Central
Google Scholar
Hellman U, Alarcon F, Lundgren HE, Suhr OB, Bonaiti-Pellie C, Plante-Bordeneuve V (2008) Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid 15:181–186
CAS
PubMed
PubMed Central
Google Scholar
Adams D, Beaudonnet G, Adam C, Lacroix C, Theaudin M, Cauquil C, Labeyrie C (2016) Familial amyloid polyneuropathy: when does it stop to be asymptomatic and need a treatment? Rev Neurol (Paris) 172:645–652
CAS
Google Scholar
Coelho T, Vinik A, Vinik EJ, Tripp T, Packman J, Grogan DR (2017) Clinical measures in transthyretin familial amyloid polyneuropathy. Muscle Nerve 55:323–332
CAS
PubMed
Google Scholar
Adams D (2013) Recent advances in the treatment of familial amyloid polyneuropathy. Ther Adv Neurol Disord 6:129–139
CAS
PubMed
PubMed Central
Google Scholar
Koike H, Misu K, Ikeda S, Ando Y, Nakazato M, Ando E, Yamamoto M, Hattori N, Sobue G (2002) Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol 59:1771–1776
PubMed
PubMed Central
Google Scholar
Hornsten R, Pennlert J, Wiklund U, Lindqvist P, Jensen SM, Suhr OB (2010) Heart complications in familial transthyretin amyloidosis: impact of age and gender. Amyloid 17:63–68
PubMed
Google Scholar
Olsson M, Norgren N, Obayashi K, Plante-Bordeneuve V, Suhr OB, Cederquist K, Jonasson J (2010) A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers. BMC Med Genet 11:130
PubMed
PubMed Central
Google Scholar
Yamashita T, Ueda M, Misumi Y, Masuda T, Nomura T, Tasaki M, Takamatsu K, Sasada K, Obayashi K, Matsui H, Ando Y (2018) Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan. J Neurol 265:134–140
CAS
PubMed
Google Scholar
Ihse E, Ybo A, Suhr OB, Lindqvist P, Backman C (2008) Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. J Pathol 216:253–261
CAS
PubMed
Google Scholar
Adams D, Lozeron P, Theaudin M, Mincheva Z, Cauquil C, Adam C, Signate A, Vial C, Maisonobe T, Delmont E, Franques J, Vallat JM, Sole G, Pereon Y, Lacour A, Echaniz-Laguna A, Misrahi M, Lacroix C (2012) Regional difference and similarity of familial amyloidosis with polyneuropathy in France. Amyloid 19(Suppl 1):61–64
CAS
PubMed
Google Scholar
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
PubMed
PubMed Central
Google Scholar
Lozeron P, Mariani LL, Dodet P, Beaudonnet G, Theaudin M, Adam C, Arnulf B, Adams D (2018) Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy. Neurology 91:e143–e152
CAS
PubMed
Google Scholar
Theaudin M, Lozeron P, Algalarrondo V, Lacroix C, Cauquil C, Labeyrie C, Slama MS, Adam C, Guiochon-Mantel A, Adams D, French FAPNSG (2019) Upper limb onset of hereditary transthyretin amyloidosis is common in non-endemic areas. Eur J Neurol 26:497–e436
CAS
PubMed
Google Scholar
Cappellari M, Cavallaro T, Ferrarini M, Cabrini I, Taioli F, Ferrari S, Merlini G, Obici L, Briani C, Fabrizi GM (2011) Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. J Peripher Nerv Syst 16:119–129
PubMed
Google Scholar
Goyal NA, Mozaffar T (2015) Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker. Neurol Genet 1:e18
PubMed
PubMed Central
Google Scholar
Koike H, Hashimoto R, Tomita M, Kawagashira Y, Iijima M, Tanaka F, Sobue G (2011) Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis. Amyloid 18:53–62
CAS
PubMed
PubMed Central
Google Scholar
Mathis S, Magy L, Diallo L, Boukhris S, Vallat JM (2012) Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy. Muscle Nerve 45:26–31
PubMed
Google Scholar
Lozeron P, Lacroix C, Theaudin M, Richer A, Gugenheim M, Adams D, Misrahi M (2013) An amyotrophic lateral sclerosis-like syndrome revealing an amyloid polyneuropathy associated with a novel transthyretin mutation. Amyloid 20:188–192
CAS
PubMed
Google Scholar
Arpa Gutierrez J, Morales C, Lara M, Munoz C, Garcia-Rojo M, Caminero A, Gutierrez M (1993) Type I familial amyloid polyneuropathy and pontine haemorrhage. Acta Neuropathol 86:542–545
CAS
PubMed
Google Scholar
Bersano A, Del Bo R, Ballabio E, Cinnante C, Lanfranconi S, Comi GP, Baron P, Bresolin N, Candelise L (2009) Transthyretin Asn90 variant: amyloidogenic or non-amyloidogenic role. J Neurol Sci 284:113–115
CAS
PubMed
Google Scholar
Sakashita N, Ando Y, Jinnouchi K, Yoshimatsu M, Terazaki H, Obayashi K, Takeya M (2001) Familial amyloidotic polyneuropathy (ATTR Val30Met) with widespread cerebral amyloid angiopathy and lethal cerebral hemorrhage. Pathol Int 51:476–480
CAS
PubMed
Google Scholar
Salvi F, Pastorelli F, Plasmati R, Morelli C, Rapezzi C, Bianchi A, Mascalchi M (2015) Brain microbleeds 12 years after orthotopic liver transplantation in Val30Met amyloidosis. J Stroke Cerebrovasc Dis 24:e149–151
PubMed
Google Scholar
Benson MD (1996) Leptomeningeal amyloid and variant transthyretins. Am J Pathol 148:351–354
CAS
PubMed
PubMed Central
Google Scholar
Vidal R, Garzuly F, Budka H, Lalowski M, Linke RP, Brittig F, Frangione B, Wisniewski T (1996) Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G). Am J Pathol 148:361–366
CAS
PubMed
PubMed Central
Google Scholar
Yamashita T, Ando Y, Okamoto S, Misumi Y, Hirahara T, Ueda M, Obayashi K, Nakamura M, Jono H, Shono M, Asonuma K, Inomata Y, Uchino M (2012) Long-term survival after liver transplantation in patients with familial amyloid polyneuropathy. Neurology 78:637–643
CAS
PubMed
PubMed Central
Google Scholar
Ikeda SI (2013) Cerebral amyloid angiopathy with familial transthyretin-derived oculoleptomeningeal amyloidosis. Brain Nerve 65:831–842
CAS
PubMed
Google Scholar
Conceicao I, Gonzalez-Duarte A, Obici L, Schmidt HH, Simoneau D, Ong ML, Amass L (2016) "Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst 21:5–9
CAS
PubMed
PubMed Central
Google Scholar
Carvalho A, Rocha A, Lobato L (2015) Liver transplantation in transthyretin amyloidosis: issues and challenges. Liver Transpl 21:282–292
PubMed
Google Scholar
Fine NM, Arruda-Olson AM, Dispenzieri A, Zeldenrust SR, Gertz MA, Kyle RA, Swiecicki PL, Scott CG, Grogan M (2014) Yield of noncardiac biopsy for the diagnosis of transthyretin cardiac amyloidosis. Am J Cardiol 113:1723–1727
CAS
PubMed
Google Scholar
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 AW, 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
CAS
PubMed
PubMed Central
Google Scholar
Rapezzi C, Quarta CC, Guidalotti PL, Pettinato C, Fanti S, Leone O, Ferlini A, Longhi S, Lorenzini M, Reggiani LB, Gagliardi C, Gallo P, Villani C, Salvi F (2011) Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis. JACC Cardiovasc Imag 4:659–670
Google Scholar
Luigetti M, Conte A, Del Grande A, Bisogni G, Madia F, Lo Monaco M, Laurenti L, Obici L, Merlini G, Sabatelli M (2013) TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. Neurol Sci 34:1057–1063
PubMed
Google Scholar
Plante-Bordeneuve V, Ferreira A, Lalu T, Zaros C, Lacroix C, Adams D, Said G (2007) Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology 69:693–698
CAS
PubMed
Google Scholar
Do Amaral B, Coelho T, Sousa A, Guimaraes A (2009) Usefulness of labial salivary gland biopsy in familial amyloid polyneuropathy Portuguese type. Amyloid 16:232–238
CAS
PubMed
Google Scholar
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
CAS
PubMed
PubMed Central
Google Scholar
Chao CC, Hsueh HW, Kan HW, Liao CH, Jiang HH, Chiang H, Lin WM, Yeh TY, Lin YH, Cheng YY, Hsieh ST (2019) Skin nerve pathology: biomarkers of premanifest and manifest amyloid neuropathy. Ann Neurol 85:560–573
CAS
PubMed
PubMed Central
Google Scholar
Dohrn MF, Rocken C, De Bleecker JL, Martin JJ, Vorgerd M, Van den Bergh PY, Ferbert A, Hinderhofer K, Schroder JM, Weis J, Schulz JB, Claeys KG (2013) Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. J Neurol 260:3093–3108
CAS
PubMed
Google Scholar
Wixner J, Mundayat R, Karayal ON, Anan I, Karling P, Suhr OB (2014) THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease. Orphanet J Rare Dis 9:61
PubMed
PubMed Central
Google Scholar
Steen L, Ek B (1983) Familial amyloidosis with polyneuropathy. A long-term follow-up of 21 patients with special reference to gastrointestinal symptoms. Acta Med Scand 214:387–397
CAS
PubMed
Google Scholar
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
CAS
PubMed
Google Scholar
Andersson R (1976) Familial amyloidosis with polyneuropathy. A clinical study based on patients living in northern Sweden. Acta Med Scand Suppl 590:1–64
CAS
PubMed
PubMed Central
Google Scholar
Bechiri MY, Eliahou L, Rouzet F, Fouret PJ, Antonini T, Samuel D, Adam R, Adams D, Slama MS, Algalarrondo V (2016) Multimodality imaging of cardiac transthyretin amyloidosis 16 years after a domino liver transplantation. Am J Transplant 16:2208–2212
CAS
PubMed
Google Scholar
Ando E, Ando Y, Okamura R, Uchino M, Ando M, Negi A (1997) Ocular manifestations of familial amyloidotic polyneuropathy type I: long-term follow up. Br J Ophthalmol 81:295–298
CAS
PubMed
PubMed Central
Google Scholar
Liu T, Zhang B, Jin X, Wang W, Lee J, Li J, Yuan H, Cheng X (2014) Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation. Eye 28:26–33
PubMed
Google Scholar
Beirao JM, Malheiro J, Lemos C, Beirao I, Costa P, Torres P (2015) Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases. Amyloid 22:117–122
CAS
PubMed
PubMed Central
Google Scholar
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
CAS
PubMed
PubMed Central
Google Scholar
Dyck PJ, Davies JL, Litchy WJ, O'Brien PC (1997) Longitudinal assessment of diabetic polyneuropathy using a composite score in the Rochester Diabetic Neuropathy Study cohort. Neurology 49:229–239
CAS
PubMed
Google Scholar
Denier C, Ducot B, Husson H, Lozeron P, Adams D, Meyer L, Said G, Planté-Bordeneuve V (2007) A brief compound test for assessment of autonomic and sensory-motor dysfunction in familial amyloid polyneuropathy. J Neurol 254:1684–1688
CAS
PubMed
Google Scholar
Pruppers MHJ, Merkies ISJ, Faber CG, Da Silva AM, Costa V, Coelho T (2015) The Val30Met familial amyloid polyneuropathy specific Rasch-built overall disability scale (FAP-RODS©). J Peripher Nerv Syst 20:319–327
CAS
PubMed
Google Scholar
Sletten DM, Suarez GA, Low PA, Mandrekar J, Singer W (2012) COMPASS 31: a refined and abbreviated Composite Autonomic Symptom Score. Mayo Clin Proc 87:1196–1201
PubMed
PubMed Central
Google Scholar
Gillmore JD, Damy T, Fontana M, Hutchinson M, Lachmann HJ, Martinez-Naharro A, Quarta CC, Rezk T, Whelan CJ, Gonzalez-Lopez E, Lane T, Gilbertson JA, Rowczenio D, Petrie A, Hawkins PN (2018) A new staging system for cardiac transthyretin amyloidosis. Eur Heart J 39:2799–2806
CAS
PubMed
Google Scholar
Vinik EJ, Vinik AI, Paulson JF, Merkies IS, Packman J, Grogan DR, Coelho T (2014) Norfolk QOL-DN: validation of a patient reported outcome measure in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst 19:104–114
PubMed
Google Scholar
Ware JE Jr, Sherbourne CD (1992) The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care 30:473–483
PubMed
Google Scholar
Vita GL, Stancanelli C, Gentile L, Barcellona C, Russo M, Bella GD, Vita G, Mazzeo A (2018) 6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR). Neuromuscul Disord 29(3):213–220
PubMed
Google Scholar
Tashima K, Ando Y, Terazaki H, Yoshimatsu S-i, Suhr OB, Obayashi K, Yamashita T, Ando E, Uchino M, Ando M (1999) Outcome of liver transplantation for transthyretin amyloidosis: follow-up of Japanese familial amyloidotic polyneuropathy patients. J Neurol Sci 171:19–23
CAS
PubMed
Google Scholar
Dyck PJ, Kincaid JC, Dyck PJB, Chaudhry V, Goyal NA, Alves C, Salhi H, Wiesman JF, Labeyrie C, Robinson-Papp J, Cardoso M, Laura M, Ruzhansky K, Cortese A, Brannagan TH 3rd, Khoury J, Khella S, Waddington-Cruz M, Ferreira J, Wang AK, Pinto MV, Ayache SS, Benson MD, Berk JL, Coelho T, Polydefkis M, Gorevic P, Adams DH, Plante-Bordeneuve V, Whelan C, Merlini G, Heitner S, Drachman BM, Conceicao I, Klein CJ, Gertz MA, Ackermann EJ, Hughes SG, Mauermann ML, Bergemann R, Lodermeier KA, Davies JL, Carter RE, Litchy WJ (2017) Assessing mNIS+7Ionis and international neurologists' proficiency in a familial amyloidotic polyneuropathy trial. Muscle Nerve 56:901–911
CAS
PubMed
PubMed Central
Google Scholar
Adams D, Cauquil C, Labeyrie C (2017) Familial amyloid polyneuropathy. Curr Opin Neurol 30:481–489
CAS
PubMed
Google Scholar
Mariani LL, Lozeron P, Theaudin M, Mincheva Z, Signate A, Ducot B, Algalarrondo V, Denier C, Adam C, Nicolas G, Samuel D, Slama MS, Lacroix C, Misrahi M, Adams D (2015) Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France. Ann Neurol 78:901–916
CAS
PubMed
PubMed Central
Google Scholar
Adams D, Gonzalez-Duarte A, O'Riordan WD, Yang CC, Ueda M, Kristen AV, Tournev I, Schmidt HH, Coelho T, Berk JL, Lin KP, Vita G, Attarian S, Plante-Bordeneuve V, Mezei MM, Campistol JM, Buades J, Brannagan TH 3rd, Kim BJ, Oh J, Parman Y, Sekijima Y, Hawkins PN, Solomon SD, Polydefkis M, Dyck PJ, Gandhi PJ, Goyal S, Chen J, Strahs AL, Nochur SV, Sweetser MT, Garg PP, Vaishnaw AK, Gollob JA, Suhr OB (2018) Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med 379:11–21
CAS
PubMed
PubMed Central
Google Scholar
Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, Plante-Bordeneuve V, Barroso FA, Merlini G, Obici L, Scheinberg M, Brannagan TH 3rd, Litchy WJ, Whelan C, Drachman BM, Adams D, Heitner SB, Conceicao 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
CAS
PubMed
PubMed Central
Google Scholar
Obici L, Kuks JB, Buades J, Adams D, Suhr OB, Coelho T, Kyriakides T, European Network for T-F (2016) Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Curr Opin Neurol 29(Suppl 1):S27–S35
CAS
PubMed
PubMed Central
Google Scholar
Theaudin M, Cauquil C, Antonini T, Algalarrondo V, Labeyrie C, Aycaguer S, Clement M, Kubezyk M, Nonnez G, Morier A, Bourges C, Darras A, Mouzat L, Adams D (2014) Familial amyloid polyneuropathy: elaboration of a therapeutic patient education programme, "EdAmyl". Amyloid 21:225–230
PubMed
Google Scholar
Dardiotis E, Koutsou P, Papanicolaou EZ, Vonta I, Kladi A, Vassilopoulos D, Hadjigeorgiou G, Christodoulou K, Kyriakides T (2009) Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus. Amyloid 16:32–37
PubMed
Google Scholar
van Gameren II, Hazenberg BP, Bijzet J, van Rijswijk MH (2006) Diagnostic accuracy of subcutaneous abdominal fat tissue aspiration for detecting systemic amyloidosis and its utility in clinical practice. Arthritis Rheum 54:2015–2021
PubMed
Google Scholar
Lobato L, Beirao I, Guimaraes SM, Droz D, Guimaraes S, Grunfeld JP, Noel LH (1998) Familial amyloid polyneuropathy type I (Portuguese): distribution and characterization of renal amyloid deposits. Am J Kidney Dis 31:940–946
CAS
PubMed
Google Scholar
Lobato L, Beirao I, Silva M, Bravo F, Silvestre F, Guimaraes S, Sousa A, Noel LH, Sequeiros J (2003) Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. Nephrol Dial Transplant 18:532–538
CAS
PubMed
Google Scholar
Oguchi K, Takei Y, Ikeda S (2006) Value of renal biopsy in the prognosis of liver transplantation in familial amyloid polyneuropathy ATTR Val30Met patients. Amyloid 13:99–107
CAS
PubMed
Google Scholar
Snanoudj R, Durrbach A, Gauthier E, Adams D, Samuel D, Ferlicot S, Bedossa P, Prigent A, Bismuth H, Charpentier B (2004) Changes in renal function in patients with familial amyloid polyneuropathy treated with orthotopic liver transplantation. Nephrol Dial Transplant 19:1779–1785
PubMed
Google Scholar
Ando Y, Coelho T, Berk JL, Cruz MW, Ericzon BG, Ikeda S, Lewis WD, Obici L, Plante-Bordeneuve V, Rapezzi C, Said G, Salvi F (2013) Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis 8:31
PubMed
PubMed Central
Google Scholar
Klein CJ, Vrana JA, Theis JD, Dyck PJ, Dyck PJ, Spinner RJ, Mauermann ML, Bergen HR 3rd, Zeldenrust SR, Dogan A (2011) Mass spectrometric-based proteomic analysis of amyloid neuropathy type in nerve tissue. Arch Neurol 68:195–199
PubMed
PubMed Central
Google Scholar
Adams D, Suhr OB, Hund E, Obici L, Tournev I, Campistol JM, Slama MS, Hazenberg BP, Coelho T, European Network for T-F (2016) First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol 29(Suppl 1):S14–S26
CAS
PubMed
PubMed Central
Google Scholar
van Nes SI, Vanhoutte EK, van Doorn PA, Hermans M, Bakkers M, Kuitwaard K, Faber CG, Merkies IS (2011) Rasch-built Overall Disability Scale (R-ODS) for immune-mediated peripheral neuropathies. Neurology 76:337–345
PubMed
Google Scholar
Piekarski E, Chequer R, Algalarrondo V, Eliahou L, Mahida B, Vigne J, Adams D, Slama MS, Le Guludec D, Rouzet F (2018) Cardiac denervation evidenced by MIBG occurs earlier than amyloid deposits detection by diphosphonate scintigraphy in TTR mutation carriers. Eur J Nucl Med Mol Imaging 45:1108–1118
CAS
PubMed
Google Scholar
Yamamoto S, Wilczek HE, Nowak G, Larsson M, Oksanen A, Iwata T, Gjertsen H, Soderdahl G, Wikstrom L, Ando Y, Suhr OB, Ericzon BG (2007) Liver transplantation for familial amyloidotic polyneuropathy (FAP): a single-center experience over 16 years. Am J Transplant 7:2597–2604
CAS
PubMed
Google Scholar