Diagnosis of familial amyloid polyneuropathy: Wide-ranged clinicopathological features

Expert Opinion on Medical Diagnostics

Volumn 4, Issue 4, 2010, Pages 323-331

  Koike, Haruki ^a   Sobue, Gen ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Amyloid; Amyloidosis; Familial amyloid polyneuropathy; Transthyretin

Indexed keywords

AMYLOID PROTEIN; PREALBUMIN;

AMINO ACID SUBSTITUTION; ASPIRATION BIOPSY; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; DNA DETERMINATION; DNA SEQUENCE; ELECTROPHYSIOLOGY; FAMILIAL AMYLOID POLYNEUROPATHY; GASTROINTESTINAL BIOPSY; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; NERVE BIOPSY; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; RECTUM BIOPSY; REVIEW; SALIVARY GLAND BIOPSY; SOUTHERN BLOTTING; SURAL NERVE; SURFACE ENHANCED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY;

EID: 77953917670     PISSN: 17530059     EISSN: 17530067     Source Type: Journal    
DOI: 10.1517/17530059.2010.495384     Document Type: Review

References (69)

1. Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007;36:411-423
2. Andrade C. A peculiar form of peripheral neuropathy: familial generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952;75:408-427
3. Araki S, Mawatari S, Ohta M, et al. Polyneuritic amyloidosis in a Japanese family. Arch Neurol 1968;18:593-602
4. Andersson R. Familial amyloidosis with polyneuropathy. A clinical study based on patients living in northern Sweden. Acta Med Scand Suppl 1976;590:1-64
5. Tawara S, Nakazato M, Kangawa K, et al. Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun 1983;116:880-888
6. Benson MD, Cohen AS. Generalized amyloid in a family of Swedish origin. A study of 426 family members in seven generations of a new kindship with neuropathy, nephropathy, and central nervous system involvement. Ann Intern Med 1977;86:419-424
7. Ikeda S, Hanyu N, Hongo M, et al. Hereditary generalized amyloidosis with polyneuropathy: clinicopathological study of 65 Japanese patients. Brain 1987;110:315-337
8. Ikeda S, Nakazato M, Ando Y, Sobue G. Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology 2002;58:1001-1007 (Pubitemid 34298536)
9. Nakazato M, Shiomi K, Miyazato M, Matsukura S. Type 1 familial amyloidotic polyneuropathy in Japan. Intern Med 1992;31:1335-1338
10. Holmgren G, Costa PM, Andersson C, et al. Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. J Med Genet 1994;31:351-354
11. 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;60:515-521
12. Reilly MM, Adams D, Booth DR, et al. Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain 1995;118:849-856
13. Koike H, Misu K, Ikeda S, et al. Type I (Transthyretin Met30) familial amyloid polyneuropathy in Japan: early- versus late-onset form. Arch Neurol 2002;59:1771-1776
14. Plante-Bordeneuve V, Ferreira A, Lalu T, et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology 2007;69:693-698
15. Ando Y, Nakamura M, Araki S. Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol 2005;62:1057-1062
16. Ando Y, Suhr OB. Autonomic dysfunction in familial amyloid polyneuropathy (FAP). Amyloid: Int J Exp Clin Invest 1998;5:288-300
17. Misu K, Hattori N, Ando Y, et al. Anticipation in early- but not late-onset familial amyloid polyenuropathy (TTR Met 30) in Japan. Neurology 2000;55:451-452
18. Misu K, Hattori N, Nagamatsu M, et al. Late-onset familial amyloid polyneuropathy type I (transthyretin Met 30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan; clinicopathological and genetic features. Brain 1999;122:1951-1962
19. Koike H, Misu K, Sugiura M, et al. Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy. Neurology 2004;63:129-138
20. Sobue G, Koike H, Misu K, et al. Clinicopathologic and genetic features of early- and late-onset FAP type I (FAP ATTR Val30Met) in Japan. Amyloid: J Protein Folding Disord 2003;10(Suppl 1):32-38
21. Conceiçao 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
22. Ando Y, Ueyama H, Watanabe S, et al. Early involvement of motor nerve dysfunction in atypical cases with familial amyloidotic polyneuropathy (FAP) type I. Muscle Nerve 1993;16:978-979
23. Ikeda S. Is familial amyloid polyneuropathy rare? DNA testing is changing the concept of this disease. Neurology 2007;69:627-628
24. 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
25. Holmgren G, Ericzon BG, Groth CG, et al. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet 1993;341:1113-1116
26. Sekijima Y, Wiseman RL, Matteson J, et al. The biological and chemical basis for tissue-selective amyloid disease. Cell 2005;121:73-85
27. Sekijima Y, Kelly JW, Ikeda S. Pathogenesis of and therapeutic strategies to ameliorate the transthyretin amyloidoses. Curr Pharm Des 2008;14:3219-3230
28. Terazaki H, Ando Y, Fernandes R, et al. Immunization in familial amyloidotic polyneuropathy: counteracting deposition by immunization with a Y78F TTR mutant. Lab Invest 2006;86:23-31
29. Tojo K, Sekijima Y, Kelly JW, Ikeda S. Diflunisal stabilizes familial amyloid polyneuropathy-associated transthyretin variant tetramers in serum against dissociation required for amyloidogenesis. Neurosci Res 2006;56:441-449
30. 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;206:224-232
31. Misumi Y, Ando Y, Ueda M, et al. Chain reaction of amyloid fibril formation with induction of basement membrane in familial amyloidotic polyneuropathy. J Pathol 2009;219:481-490
32. Gustavsson A, Jahr H, Tobiassen R, et al. Amyloid fibril composition and transthyretin gene structure in senile systemic amyloidosis. Lab Invest 1995;73:703-708
33. Kyle RA, Spittell PC, Gertz MA, et al. The premortem recognition of systemic senile amyloidosis with cardiac involvement. Am J Med 1996;101:395-400
34. Takei Y, Hattori T, Gono T, et al. Senile systemic amyloidosis presenting as bilateral carpal tunnel syndrome. Amyloid: J Protein Folding Disord 2002:9;252-255
35. Westermark P, Bergstrom J, Solomon A, et al. Transthyretin-derived senile systemic amyloidosis: clinicopathologic and structural considerations. Amyloid: J Protein Folding Disord 2003;10(Suppl 1):48-54
36. Kodaira M, Sekijima Y, Tojo K, et al. Non-senile wild-type transthyretin systemic amyloidosis presenting as bilateral carpal tunnel syndrome. J Peripher Nerv Syst 2008;13:148-150
37. Nakazato M, Kangawa K, Minamino N, et al. Radioimmunoassay for detecting abnormal prealbumin in the serum for diagnosis of familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun 1984;122:719-725 (Pubitemid 14060660)
38. Sasaki H, Sakaki Y, Matsuo H, et al. Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques. Biochem Biophys Res Commun 1984;125:636-642
39. Nakazato M, Ikeda S, Shiomi K, et al. Identification of a novel transthyretin variant (Val30-Leu) associated with familial amyloidotic polyneuropathy. FEBS Lett 1992;306:206-208
40. Kishikawa M, Nakanishi T, Miyazaki A, et al. Simple detection of abnormal serum transthyretin from patients with familial amyloidotic polyneuropathy by high-performance liquid chromatography/electrospray ionization mass spectrometry using material precipitated with specific antiserum. J Mass Spectrom 1996;31:112-114
41. Benson MD, Yazaki M, Magy N. Laboratory assessment of transthyretin amyloidosis. Clin Chem Lab Med 2002;40:1262-1265
42. Altland K, Benson MD, Costello CE, et al. Genetic microheterogeneity of human transthyretin detected by IEF. Electrophoresis 2007;28:2053-2064
43. 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;55:1223-1227
44. Koike H, Ando Y, Ueda M, et al. Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy. J Neurol Sci 2009;287:178-184
45. Tashima K, Ando Y, Tanaka Y, et al. Change in age of onset in patients with familial amyloidotic polyneuropathy typeI. Intern Med 1995;34:748-750
46. Yamamoto K, Ikeda S, Hanyu N, et al. A pedigree analysis with minimized ascertainment bias shows anticipation in Met30-tansthyretin related familial amyloid polyneuropathy. J Med Genet 1998;35:23-30
47. Coutinho P, DeSilva AM, Lima JL, Barbosa AR. Forty years of experience with type I amyloid neuropathy: review of 483 cases. In: Glenner GG, Costa PP, Freitass F, editors, Amyloid and amyloidosis. Exerpta Medica, Amsterdam, PA; 1980. p. 88-98
48. 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
49. Kato-Motozaki Y, Ono K, Shima K, et al. Epidemiology of familial amyloid polyneuropathy in Japan: Identification of a novel endemic focus. J Neurol Sci 2008;270:133-140
50. Hellman U, Alarcon F, Lundgren HE, et al. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid: J Protein Folding Disord 2008;15:181-186
51. Dardiotis E, Koutsou P, Papanicolaou EZ, et al. Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus. Amyloid: J Protein Folding Disord 2009;16:32-37
52. Saporta MA, Zaros C, Cruz MW, et al. Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families. Eur J Neurol 2009;16:337-341
53. Koike H, Morozumi S, Kawagashira Y, et al. The significance of carpal tunnel syndrome in transthyretin Val30Met familial amyloid polyneuropathy. Amyloid: J Protein Folding Disord 2009;15:1-7
54. Benson MD, Cohen AS, Brandt KD, Cathcart ES. Neuropathy, M components, and amyloid. Lancet 1975;1:10-236
55. Kyle RA, Bayrd ED. Amyloidosis: review of 236 cases. Medicine (Baltimore) 1975;54:271-299
56. Kyle RA, Eilers SG, Linscheid RL, Gaffey TA. Amyloid localized to tenosynovium at carpal tunnel release. Natural history of 124 cases. Am J Clin Pathol 1989;91:393-397
57. Kelly JJ Jr. The electrodiagnostic findings in peripheral neuropathy associated with monoclonal gammopathy. Muscle Nerve 1983;6:504-509
58. Kiuru S, Seppalainen AM. Neuropathy in familial amyloidosis, Finnish type (FAF): electrophysiological studies. Muscle Nerve 1994;17:299-304
59. 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: J Protein Folding Disord 2010;17:32-35
60. Kyle RA, Gertz MA, Linke RP. Amyloid localized to tenosynovium at carpal tunnel release. Immunohistochemical identification of amyloid type. Am J Clin Pathol 1992;97:250-253
61. Nakamichi KI, Tachibana S. Amyloid deposition in the synovium and ligament in idiopathic carpal tunnel syndrome. Muscle Nerve 1996;19:1349-1351
62. Sobue G, Nakao N, Murakami K, et al. Type I familial amyloid polyneuropathy. A pathological study of the peripheral nervous system. Brain 1990;113:903-919
63. 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;165:1425-1429
64. Cornwell GG III, Murdoch WL, Kyle RA, et al. Frequency and distribution of senile cardiovascular amyloid. A clinicopathologic correlation. Am J Med 1983;75:618-623
65. Tashima T, Kitamoto T, Tateishi J, et al. Incidence and characterization of age related amyloid deposits in the human anterior pituitary gland. Virchows Arch 1988;412:323-327
66. Rocken C, Eick B, Saeger W. Senile amyloidosis of the pituitary and adrenal glands. Virchows Arch 1996;429:293-299
67. Westermark P, Eriksson L, Engstrom U, et al. Prolactin-derived amyloid in the aging pituitary gland. Am J Pathol 1997;150:67-73
68. 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;22:519-527
69. Said G, Ropert A, Faux N. Length-dependent degeneration of fibers in Portuguese amyloid polyneuropathy: a clinicopathologic study. Neurology 1984;34:1025-1032