Transthyretin familial amyloid polyneuropathy

Handbook of Clinical Neurology

Volumn 115, Issue , 2013, Pages 643-658

  Plante Bordeneuve V ^a,b   Kerschen, P ^a,c  

^a HENRI MONDOR HOSPITAL   (France)

^b INSERM   (France)

^c FACULTÉ DE MÉDECINE   (France)

Author keywords

Amyloidosis; Genetics; Neuropathy; Therapeutics; Transthyretin

Indexed keywords

AMYLOID; PREALBUMIN;

AMYLOIDOSIS; ARTICLE; FAMILIAL AMYLOID POLYNEUROPATHY; GENETICS; HUMAN; METABOLISM; MUTATION; NEUROPATHY; PATHOLOGY; PERIPHERAL NEUROPATHY; THERAPY;

AMYLOIDOSIS; GENETICS; NEUROPATHY; THERAPEUTICS; TRANSTHYRETIN;

AMYLOID; AMYLOID NEUROPATHIES, FAMILIAL; HUMANS; MUTATION; PERIPHERAL NERVOUS SYSTEM DISEASES; PREALBUMIN;

EID: 84881497425     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-52902-2.00038-2     Document Type: Chapter

References (107)

1. Adams D., Samuel D., Goulon-Goeau C., et al. The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. Brain 2000, 123:1495-1504.
2. Almeida M.R., Alves I.L., Terazaki H., 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, 270:1024-1028.
3. Andersson R. Familial amyloidosis with polyneuropathy: a clinical study based on patients living in northern Sweden. Acta Med Scand Suppl 1976, 590:1-64.
4. Ando E., Ando Y., Okamura R., et al. Ocular manifestations of familial amyloidotic polyneuropathy type I: long-term follow up. Br J Ophthalmol 1997, 81:295-298.
5. Andrade C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952, 75:408-427.
6. Araki S., Mawatari S., Ohta M., et al. Polyneuritic amyloidosis in a Japanese family. Arch Neurol 1968, 18:593-602.
7. Beirao I., Lobato L., Moreira L., et al. Long-term treatment of anemia with recombinant human erythropoietin in familial amyloidosis TTR V30M. Amyloid 2008, 15:205-209.
8. Benson M.D. Leptomeningeal amyloid and variant transthyretins. Am J Pathol 1996, 148:351-354.
9. Benson M.D., Kincaid J.C. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007, 36:411-423.
10. Benson M.D., Kluve-Beckerman B., Zeldenrust S.R., et al. Targeted suppression of an amyloidogenic transthyretin with antisense oligonucleotides. Muscle Nerve 2006, 33:609-618.
11. Blanco-Jerez C.R., Jimenez-Escrig A., Gobernado J.M., et al. Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred. Muscle Nerve 1998, 21:1478-1485.
12. Bodin K., Ellmerich S., Kahan M.C., et al. Antibodies to human serum amyloid P component eliminate visceral amyloid deposits. Nature 2010, 468:93-97.
13. Brett M., Persey M.R., Reilly M.M., et al. Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. Brain 1999, 122:183-190.
14. Briemberg H.R., Amato A.A. Transthyretin amyloidosis presenting with multifocal demyelinating mononeuropathies. Muscle Nerve 2004, 29:318-322.
15. Carvalho F., Sousa M., Fernandes S., et al. Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP). Prenat Diagn 2001, 21:1093-1099.
16. Coelho T., Maia L.F., Martins da Silva A., et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology 2012, 79:785-792.
17. Conceicao I., De Carvalho M. Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal. Muscle Nerve 2007, 35:116-118.
18. Conceicao I.M., Castro J.F., Scotto M., et al. Neurophysiological markers in familial amyloid polyneuropathy patients: early changes. Clin Neurophysiol 2008, 119:1082-1087.
19. Costa P.P., Figueira A.S., Bravo F.R. Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy. Proc Natl Acad Sci U S A 1978, 75:4499-4503.
20. Coutinho P., Martins da Silva A., Lopes Lima J., et al. Forty years of experience with type I amyloid neuropathy. Review of 483 cases. Amyloid and Amyloidosis 1980, 88-98. Excerpta Medica, Amsterdam. G.G. Glenner, P. Pinho e Costa, A. Falcao de Freitas (Eds.).
21. Delahaye N., Rouzet F., Sarda L., et al. Impact of liver transplantation on cardiac autonomic denervation in familial amyloid polyneuropathy. Medicine (Baltimore) 2006, 85:229-238.
22. Dember L.M., Hawkins P.N., Hazenberg B.P., et al. Eprodisate for the treatment of renal disease in AA amyloidosis. N Engl J Med 2007, 356:2349-2360.
23. Di Bella G., Minutoli F., Mazzeo A., et al. MRI of cardiac involvement in transthyretin familial amyloid polyneuropathy. AJR Am J Roentgenol 2010, 195:W394-W399.
24. Dispenzieri A., Kyle R., Merlini G., et al. International Myeloma Working Group guidelines for serum-free light chain analysis in multiple myeloma and related disorders. Leukemia 2009, 23:215-224.
25. Dubrey S.W., Davidoff R., Skinner M., et al. Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplantation 1997, 64:74-80.
26. Freeman R. Clinical practice. Neurogenic orthostatic hypotension. N Engl J Med 2008, 358:615-624.
27. Gillmore J.D., Tennent G.A., Hutchinson W.L., et al. Sustained pharmacological depletion of serum amyloid P component in patients with systemic amyloidosis. Br J Haematol 2010, 148:760-767.
28. Goren H., Steinberg M.C., Farboody G.H. Familial oculoleptomeningeal amyloidosis. Brain 1980, 103:473-495.
29. Graceffa A., Russo M., Vita G.L., et al. Psychosocial impact of presymptomatic genetic testing for transthyretin amyloidotic polyneuropathy. Neuromuscul Disord 2009, 19:44-48.
30. Hara R., Kawaji T., Ando E., et al. Impact of liver transplantation on transthyretin-related ocular amyloidosis in Japanese patients. Arch Ophthalmol 2010, 128:206-210.
31. Hattori T., Takei Y., Koyama J., et al. Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. Amyloid 2003, 10:229-239.
32. Hawkins P.N., Lavender J.P., Pepys M.B. Evaluation of systemic amyloidosis by scintigraphy with 123I-labeled serum amyloid P component. N Engl J Med 1990, 323:508-513.
33. Heldestad V., Nordh E. Quantified sensory abnormalities in early genetically verified transthyretin amyloid polyneuropathy. Muscle Nerve 2007, 35:189-195.
34. Hellman U., Alarcon F., Lundgren H.E., et al. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid 2008, 15:181-186.
35. Herlenius G., Wilczek H.E., Larsson M., et al. Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: results from the Familial Amyloidotic Polyneuropathy World Transplant Registry. Transplantation 2004, 77:64-71.
36. 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, 40:242-246.
37. Holmgren G., Hellman U., Lundgren H.E., et al. Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome. J Med Genet 2005, 42:953-956.
38. Hornsten R., Wiklund U., Olofsson B.O., et al. Liver transplantation does not prevent the development of life-threatening arrhythmia in familial amyloidotic polyneuropathy, Portuguese-type (ATTR Val30Met) patients. Transplantation 2004, 78:112-116.
39. Hornsten R., Pennlert J., Wiklund U., et al. Heart complications in familial transthyretin amyloidosis: impact of age and gender. Amyloid 2010, 17:63-68.
40. Hou X., Aguilar M.I., Small D.H. Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. FEBS J 2007, 274:1637-1650.
41. Ihse E., Ybo A., Suhr O., et al. Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. J Pathol 2008, 216:253-261.
42. Ikeda S., Nakazato M., Ando Y., et al. Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology 2002, 58:1001-1007.
43. Ikeda S., Takei Y., Tokuda T., et al. Clinical and pathological findings of non-Val30Met TTR type familial amyloid polyneuropathy in Japan. Amyloid 2003, 10:39-47.
44. Jacobson D.R., McFarlin D.E., Kane I., et al. Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. Hum Genet 1992, 89:353-356.
45. Jacobson D.R., Pastore R.D., Yaghoubian R., et al. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med 1997, 336:466-473.
46. Katzmann J.A., Abraham R.S., Dispenzieri A., et al. Diagnostic performance of quantitative kappa and lambda free light chain assays in clinical practice. Clin Chem 2005, 51:878-881.
47. Kimura A., Ando E., Fukushima M., et al. Secondary glaucoma in patients with familial amyloidotic polyneuropathy. Arch Ophthalmol 2003, 121:351-356.
48. Klein C.J., Vrana J.A., Theis J.D., et al. Mass spectrometric-based proteomic analysis of amyloid neuropathy type in nerve tissue. Arch Neurol 2011, 68:195-199.
49. 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, 135:188-193.
50. Koike H., Misu K., Ikeda S., et al. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol 2002, 59:1771-1776.
51. Koike H., Kawagashira Y., Iijima M., et al. Electrophysiological features of late-onset transthyretin Met30 familial amyloid polyneuropathy unrelated to endemic foci. J Neurol 2008, 255:1526-1533.
52. Kurosawa T., Igarashi S., Nishizawa M., et al. Selective silencing of a mutant transthyretin allele by small interfering RNAs. Biochem Biophys Res Commun 2005, 337:1012-1018.
53. Lachmann H.J., Booth D.R., Booth S.E., et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med 2002, 346:1786-1791.
54. Lauria G., Devigili G. Skin biopsy as a diagnostic tool in peripheral neuropathy. Nat Clin Pract Neurol 2007, 3:546-557.
55. Lehrke S., Steen H., Kristen A.V., et al. 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 2009, 16:187-195.
56. Liepnieks J.J., Benson M.D. Progression of cardiac amyloid deposition in hereditary transthyretin amyloidosis patients after liver transplantation. Amyloid 2007, 14:277-282.
57. Liepnieks J.J., Zhang L.Q., Benson M.D. Progression of transthyretin amyloid neuropathy after liver transplantation. Neurology 2010, 75:324-327.
58. Lindqvist P., Olofsson B.O., Backman C., et al. Pulsed tissue Doppler and strain imaging discloses early signs of infiltrative cardiac disease: a study on patients with familial amyloidotic polyneuropathy. Eur J Echocardiogr 2006, 7:22-30.
59. Lobato L., Beirao I., Silva M., et al. Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. Nephrol Dial Transplant 2003, 18:532-538.
60. Lobato L., Beirao I., Silva M., et al. End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors. Amyloid 2004, 11:27-37.
61. Love K.T., Mahon K.P., Levins C.G., et al. Lipid-like materials for low-dose, in vivo gene silencing. Proc Natl Acad Sci U S A 2010, 107:1864-1869.
62. McVary K.T. Clinical practice. Erectile dysfunction. N Engl J Med 2007, 357:2472-2481.
63. Merlini G., Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med 2003, 349:583-596.
64. Misu K., 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, 122:1951-1962.
65. Misu K., Hattori N., Ando Y., et al. Anticipation in early- but not late-onset familial amyloid polyneuropathy (TTR met 30) in Japan. Neurology 2000, 55:451-452.
66. Munar-Ques M., Pedrosa J.L., Coelho T., et al. Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. J Med Genet 1999, 36:629-632.
67. Murakami T., Tachibana S., Endo Y., et al. Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant. Neurology 1994, 44:315-318.
68. Okamoto S., Wixner J., Obayashi K., et al. Liver transplantation for familial amyloidotic polyneuropathy: impact on Swedish patients' survival. Liver Transpl 2009, 15:1229-1235.
69. Planté-Bordeneuve V., Said G. Familial amyloid polyneuropathy. Lancet Neurol 2011, 10:1086-1097.
70. Plante-Bordeneuve V., Lalu T., Misrahi M., et al. Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology 1998, 51:708-714.
71. Plante-Bordeneuve V., Carayol J., Ferreira A., et al. Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families. J Med Genet 2003, 40:e120.
72. Plante-Bordeneuve V., Ferreira A., Lalu T., et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology 2007, 69:693-698.
73. Pomfret E.A., Lewis W.D., Jenkins R.L., et al. Effect of orthotopic liver transplantation on the progression of familial amyloidotic polyneuropathy. Transplantation 1998, 65:918-925.
74. Porciani M.C., Lilli A., Perfetto F., et al. Tissue Doppler and strain imaging: a new tool for early detection of cardiac amyloidosis. Amyloid 2009, 16:63-70.
75. Propsting M.J., Blaschke M., Haas R.E., et al. Inosine(15.1) hammerhead ribozymes for targeting the transthyretin-30 mutation. Biochem Biophys Res Commun 1999, 260:313-317.
76. Rapezzi C., Perugini E., Salvi F., et al. Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies?. Amyloid 2006, 13:143-153.
77. Rapezzi C., Riva L., Quarta C.C., et al. Gender-related risk of myocardial involvement in systemic amyloidosis. Amyloid 2008, 15:40-48.
78. Reilly M.M., Adams D., Davis M.B., et al. Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77). J Neurol 1995, 242:664-668.
79. Reilly M.M., Staunton H., Harding A.E. Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study. J Neurol Neurosurg Psychiatry 1995, 59:45-49.
80. Said G. Familial amyloid polyneuropathy: mechanisms leading to nerve degeneration. Amyloid 2003, 10:7-12.
81. Said G., Plante-Bordeneuve V. Familial amyloid polyneuropathy: a clinico-pathologic study. J Neurol Sci 2009, 284:149-154.
82. Said G., Ropert A., Faux N. Length dependent degeneration of fibers in Portuguese amyloid polyneuropathy. A clinicopathological study. Neurology 1984, 34:1025-1032.
83. Said G., Grippon S., Kirkpatrick P. Tafamidis. Nat Rev Drug Discov 2012, 11:185-186.
84. Saporta M.A., Plante-Bordeneuve V., Misrahi M., et al. Discordant expression of familial amyloid polyneuropathy in monozygotic Brazilian twins. Amyloid 2009, 16:38-41.
85. Saporta M.A., Zaros C., Cruz M.W., et al. Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families. Eur J Neurol 2009, 16:337-341.
86. Saraiva M.J. Transthyretin mutations in hyperthyroxinemia and amyloid diseases. Hum Mutat 2001, 17:493-503.
87. Sasaki H., Yoshioka N., Takagi Y., et al. Structure of the chromosomal gene for human serum prealbumin. Gene 1985, 37:191-197.
88. Sekijima Y., Kelly J.W., Ikeda S. Pathogenesis of and therapeutic strategies to ameliorate the transthyretin amyloidoses. Curr Pharm Des 2008, 14:3219-3230.
89. 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, 255:1220-1225.
90. Soares M., Buxbaum J., Sirugo G., et al. Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions. Hum Genet 1999, 104:480-485.
91. Sousa A., Andersson R., Drugge U., et al. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered 1993, 43:288-294.
92. Sousa A., Coelho T., Barros J., et al. 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, 60:512-521.
93. Sousa M.M., 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.
94. Stangou A.J., Hawkins P.N., Heaton N.D., et al. Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy: implications for amyloid fibrillogenesis. Transplantation 1998, 66:229-233.
95. Stangou A.J., Heaton N.D., Hawkins P.N. Transmission of systemic transthyretin amyloidosis by means of domino liver transplantation. N Engl J Med 2005, 352:2356.
96. Staunton H., Dervan P., Kale R., et al. Hereditary amyloid polyneuropathy in North West Ireland. Brain 1987, 110:1231-1245.
97. Suhr O., Danielsson A., Holmgren G., et al. Malnutrition and gastrointestinal dysfunction as prognostic factors for survival in familial amyloidotic polyneuropathy. J Intern Med 1994, 235:479-485.
98. Suhr O.B., Lindqvist P., Olofsson B.O., et al. Myocardial hypertrophy and function are related to age at onset in familial amyloidotic polyneuropathy. Amyloid 2006, 13:154-159.
99. Suhr O.B., Anan I., Backman C., et al. Do troponin and B-natriuretic peptide detect cardiomyopathy in transthyretin amyloidosis?. J Intern Med 2008, 263:294-301.
100. Tanaka K., Yamada T., Ohyagi Y., et al. Suppression of transthyretin expression by ribozymes: a possible therapy for familial amyloidotic polyneuropathy. J Neurol Sci 2001, 183:79-84.
101. Tojo K., Sekijima Y., Kelly J.W., et al. Diflunisal stabilizes familial amyloid polyneuropathy-associated transthyretin variant tetramers in serum against dissociation required for amyloidogenesis. Neurosci Res 2006, 56:441-449.
102. Vogelsberg H., Mahrholdt H., Deluigi C.C., et al. Cardiovascular magnetic resonance in clinically suspected cardiac amyloidosis: noninvasive imaging compared to endomyocardial biopsy. J Am Coll Cardiol 2008, 51:1022-1030.
103. Yamamoto S., Wilczek H.E., Nowak G., et al. Liver transplantation for familial amyloidotic polyneuropathy (FAP): a single-center experience over 16 years. Am J Transplant 2007, 7:2597-2604.
104. Yang N.C., Lee M.J., Chao C.C., Chuang Y.T., et al. Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser. Neurology 2010, 75:532-538.
105. Yazaki M., Tokuda T., Nakamura A., et al. Cardiac amyloid in patients with familial amyloid polyneuropathy consists of abundant wild-type transthyretin. Biochem Biophys Res Commun 2000, 274:702-706.
106. Yazaki M., Liepnieks J.J., Kincaid J.C., et al. Contribution of wild-type transthyretin to hereditary peripheral nerve amyloid. Muscle Nerve 2003, 28:438-442.
107. 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, 7:235-242.