Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features

Brain

Volumn 122, Issue 10, 1999, Pages 1951-1962

  Misu, Ken Ichiro ^a   Hattori, Naoki ^a   Nagamatsu, Masaaki ^a   Ikeda, Shu Ichi ^b   Ando, Yukio ^c   Nakazato, Masamitsu ^d   Takei, Yo Ichi ^b   Hanyu, Norinao ^e   Usui, Yasuomi ^f   Tanaka, Fumiaki ^a   Harada, Toshihide ^g   Inukai, Akira ^a   Hashizume, Yoshio ^h   Sobue, Gen ^a  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^d UNIVERSITY OF MIYAZAKI   (Japan)

^e NAGANO RED CROSS HOSPITAL   (Japan)

^f Okazaki City Hospital   (Japan)

^g HIROSHIMA UNIV SCHOOL OF MEDICINE   (Japan)

^h AICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

Clinicopathological study; Genetic study; Late onset; Transthyretin Met30 associated familial amyloid polyneuropathy Transthyretin

Indexed keywords

AMYLOID; PREALBUMIN;

ADULT; AGED; AMYLOID NEUROPATHY; ARTICLE; CLINICAL FEATURE; FAMILY STUDY; FEMALE; GEOGRAPHIC DISTRIBUTION; HUMAN; HUMAN TISSUE; JAPAN; MAJOR CLINICAL STUDY; MALE; NERVE BIOPSY; NEUROPATHOLOGY; ONSET AGE; PARESTHESIA; POLYNEUROPATHY; PRIORITY JOURNAL; SCIATIC NERVE; SENSORY GANGLION; SEX DIFFERENCE; SEX RATIO; SIBLING; SPINAL GANGLION; SURAL NERVE; SYMPATHETIC GANGLION;

EID: 0032863087     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/122.10.1951     Document Type: Article

References (63)

1. Alves M, Conceicao I, Luis ML. Neurophysiological evaluation of sexual dysfunction in familial amyloidotic polyneuropathy -Portuguese type. Acta Neurol Scand 1997; 96: 163-6.
2. Andersson R. Familial amyloidosis with polyneuropathy. A clinical study based on patients living in northern Sweden. Acta Med Scand Suppl 1976; 590: 1-64.
3. Ando Y, Araki S, Shimoda O, Kano T. Role of autonomic nerve functions in patients with familial amyloidotic polyneuropathy as analyzed by laser Doppler flowmetry, capsule hydrograph, and cardiographic R-R interval. Muscle Nerve 1992; 15: 507-12.
4. Ando Y, Ueyama H, Watanabe S, Miyaji M, Tanaka Y, Ando M, et al. Early involvement of motor nerve dysfunction in atypical cases with familial amyloidotic polyneuropathy (FAP) type I [letter]. Muscle Nerve 1993; 16: 978-9.
5. Ando Y, Tanaka Y, Ando E, Yamashita T, Nishida Y, Tashima K, et al. Effects of liver transplantation on autonomic dysfunction in familial amyloidotic polyneuropathy type I [letter]. Lancet 1995; 345: 195-6.
6. Ando Y, Nyhlin N, Suhr O, Holmgren G, Uchida K, el Sahly M, et al. Oxidative stress is found in amyloid deposits in systemic amyloidosis. Biochem Biophys Res Commun 1997; 232: 497-502.
7. Ando Y, Terasaki H, Ando M, Tajima K, Yamashita T, Obayashi K, et al. Post-translational modification of plasma transthyretin in familial amyloid polyneuropathy (Met30) [abstract]. In: Proceedings of the 39th Annual Meeting of Japanese Society of Neurology, Kyoto, Japan. 1998.
8. Andrade C. A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952; 75: 408-27.
9. Aoki K, Koike R, Yuasa T, Ikeda S, Tsuji S. [A sporadic case of late onset familial amyloidotic polyneuropathy preceded by cardiac involvement]. [Japanese]. Rinsho Shinkeigaku 1993; 33: 905-8.
10. Araki S, Mawatari S, Ohta M, Nakajima A, Kuroiwa Y. Polyneuritic amyloidosis in a Japanese family. Arch Neurol 1968; 18: 593-602.
11. Araki S, Yi S, Murakami T, Watanabe S, Ikegawa S, Takahashi K, et al. Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met30) gene. Pathological and immunohistochemical similarity to human familial amyloidotic polyneuropathy type1. [Review]. Mol Neurobiol 1994; 8: 15-23.
12. Benson MD, Cohen AS. Generalized amyloid in a family of Swedish origin. A study of 426 family members in seven generations of a new kinship with neuropathy, nephropathy, and central nervous system involvement, Ann Intern Med 1977; 86: 419-24.
13. Bergethon PR, Sabin TD, Lewis D, Simms RW, Cohen AS, Skinner M. Improvement in the polyneuropathy associated with familial amyloid polyneuropathy after liver transplantation. Neurology 1996; 47:944-51.
14. Coelho T, Sousa A, Lourenco E, Ramalheira J. A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. [Review]. J Med Genet 1994; 31: 293-9.
15. 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, de Freitas AF, editors. Amyloid and amyloidosis. Amsterdam: Excerpta Medica; 1980. p. 88-98.
16. Drugge U, Andersson R, Chizari F, Danielsson M, Holmgren G, Sandgren O, et al. Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis. J Med Genet 1993; 30: 388-92.
17. Dyck PJ, Giannini C, Lais A. Pathologic alterations of nerves. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Peripheral neuropathy. 3rd ed. Philadelphia: W.B. Saunders; 1993. p. 514-95.
18. Fujitake J, Horii K, Tatsuoka Y, Funauchi M, Saida K. [Two brother cases of late-onset familial amyloidotic polyneuropathy in Kyoto]. [Japanese]. Rinsho Shinkeigaku 1991; 31: 184-90.
19. Hanyu N, Ikeda S, Nakadai A, Yanagisawa N, Powell HC. Peripheral nerve pathological findings in familial amyloid polyneuropathy: a correlative study of proximal sciatic nerve and sural nerve lesions. Ann Neurol 1989; 25: 340-50.
20. Hattori N, Ichimura M, Nagamatsu M, Li M, Yamamoto K, Kumazawa K, et al. Clinicopathological features of Churg-Strauss syndrome-associated neuropathy. Brain 1999; 122: 427-39.
21. Hofer PA, Anderson R. Postmortem findings in primary familial amyloidosis with polyneuropathy. Acta Pathol Microbiol Scand [A] 1975; 83: 309-22.
22. Holmgren G, Steen L, Ekstedt J, Groth CG, Ericzon BG, Eriksson S, et al. Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30). Clin Genet 1991; 40: 242-6.
23. Holmgren G, Ericzon BG, Groth CG, Steen L, Suhr O, Andersen O, et al. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet 1993; 341: 1113-6.
24. Holmgren G, Costa PM, Andersson C, Asplund K, Steen L, Beckman L, et al. Geographical distribution of TTR Met30 carriers in northern Sweden; discrepancy between carrier frequency and prevalence rate. J Med Genet 1994; 31: 351-4.
25. Holmgren G, Ando Y, Wikström L. Discordant symptoms in monozygotic twins with familial amyloidotic polyneuropathy (FAP) (TTR met30). Amyloid: Int J Exp Clin Invest 1997; 4: 178-80.
26. Ikeda S, Koh CS, Miyasaka M, Yanagisawa N, Tsukagoshi H. [Familial amyloid neuropathy with late onset and benign course]. [Japanese]. Rinsho Shinkeigaku 1981; 21: 135-42.
27. Ikeda S, Hanyu N, Hongo M, Yoshioka J, Oguchi H, Yanagisawa N, et al. Hereditary generalized amyloidosis with polyneuropathy: clinicopathological study of 65 Japanese patients. Brain 1987; 110: 315-37.
28. Ikeda S, Nakano T, Yanagisawa N, Nakazato N, Tsukagoshi H. Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy. Eur Neurol 1992; 32: 308-13.
29. Ikeda S, Takei Y, Yanagisawa N, Matsunami H, Hashikura Y, Ikegami T, et al. Peripheral nerves regenerated in familial amyloid polyneuropathy after liver transplantation. Ann Intern Med 1997a; 127: 618-20.
30. Ikeda S, Takei Y, Yanagisawa N, Matsunami H, Hashikura Y, Ikegami T, et al. Partial liver transplantation from living donors in familial amyloid polyneuropathy. Amyloid: Int J Exp Clin Invest 1997b;4: 18-23.
31. Kimura J. Principles of nerve conduction studies. In: Kimura J. Electrodiagnosis in diseases of nerve and muscle: principles and practice. 2nd ed. Philadelphia: FA. Davis; 1989a. p. 78-102.
32. Kimura J. Assessment of individual nerves. In: Kimura J. Electrodiagnosis in diseases of nerve and muscle: principles and practice. 2nd ed. Philadelphia: F.A. Davis; 1989b. p. 103-38.
33. Kincaid JC, Wallace MR, Benson MD. Late-onset familial amyloid polyneuropathy in an American family of English origin. Neurology 1989; 39: 861-3.
34. Kito S, Itoga E, Kamiya K, Kishida T, Yamamura Y. Studies on familial amyloid polyneuropathy in Ogawa Village, Japan. Eur Neurol 1980; 19: 141-51.
35. Kohno K, Palha JA, Miyakawa K, Saraiva MJ, Ito S, Mabuchi T, et al. Analysis of amyloid deposition in a transgenic mouse model of homozygous familial amyloidotic polyneuropathy. Am J Pathol 1997; 150: 1497-508.
36. Libbey CA, Rubinow A, Shirahama T, Deal C, Cohen AS. Familial amyloid polyneuropathy. Demonstration of prealbumin in a kinship of German/English ancestry with onset in the seventh decade. Am J Med 1984; 76: 18-24.
37. Matsushima K, Kotoh H, Takagi S, Okabe T, Shinohara Y. [Two sibling patients with late-onset familial amyloidotic polyneuropathy and atypical clinical manifestations]. [Japanese]. Rinsho Shinkeigaku 1992; 32: 538-40.
38. Nakazato M, Shiomi K, Miyazato M, Matsukura S. Type 1 familial amyloidotic polyneuropathy in Japan. Intern Med 1992; 31: 1335-8.
39. Nitta K, Kito S, Harada T, Sakaki T, Sasaki H. [Familial amyloid polyneuropathy (FAP), in an inborn habitat of Hiroshima Prefecture, Japan]. [Japanese]. Rinsho Shinkeigaku 1986; 26: 903-6.
40. Parrilla P, Ramirez P, Andreu LF, Bueno SF, Robles R, Miras M, et al. Long-term results of liver transplantation in familial amyloidotic polyneuropathy type I. Transplantation 1997; 64: 646-9.
41. Plante-Bordeneuve V, Lalu T, Misrahi M, Reilly MM, Adams D, Lacroix C, et al. Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology 1998; 51: 708-14.
42. Pomfret EA, Lewis WD, Jenkins RL, Bergethon P, Dubrey SW, Reisinger J, et al. Effect of orthotopic liver transplantation on the progression of familial amyloidotic polyneuropathy. Transplantation 1998; 65: 918-25.
43. Reilly MM, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, et al. Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain 1995; 118: 849-56.
44. Said G, Ropert A, Faux N. Length-dependent degeneration of fibers in Portuguese amyloid polyneuropathy: a clinicopathologic study. Neurology 1984; 34: 1025-32.
45. Sakaki Y, Yoshioka K, Tanahashi H, Furuya H, Sasaki H. Human transthyretin (prealbumin) gene and molecular genetics of familial amyloidotic polyneuropathy. [Review]. Mol Biol Med 1989; 6: 161-8.
46. Saraiva MJ, Costa PP, Goodman DS. Genetic expression of a transthyretin mutation in typical and late-onset Portuguese families with familial amyloidotic polyneuropathy. Neurology 1986; 36: 1413-7.
47. Sequeiros J, Sousa A, Coelho T. Sex differences and age-dependent penetrance in FAP type I. In: Natvig JB, Førre Ø, Husby G, Husebekk A, Skogen B, Sletten K, et al., editors. Amyloid and amyloidosis 1990. Dordrecht: Kluwer Academic; 1991. p. 687-90.
48. Sobue G, Hashizume Y, Mukai E, Hirayama M, Mitsuma T, Takahashi A. X-linked recessive bulbospinal neuronopathy: a clinicopathological study. Brain 1989; 112: 209-32.
49. Sobue G, Nakao N, Murakami K, Yasuda T, Sahashi K, Mitsuma T, et al. Type 1 familial amyloid polyneuropathy. A pathological study of the peripheral nervous system. Brain 1990; 113: 903-19.
50. Sobue G, Li M, Terao S, Aoki S, Ichimura M, Ieda T, et al. Axonal pathology in Japanese Guillain-Barre syndrome: a study of 15 autopsied cases. Neurology 1997; 48: 1694-700.
51. Sousa A, Andersson R, Drugge U, Holmgren G, Sandgren O, Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered 1993; 43: 288-94.
52. 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: 512-21.
53. Suhr OB, Wiklund U, Eleborg L, Ando Y, Backman C, Birgersdotter V, et al. Impact of autonomic neuropathy on circulatory instability during liver transplantation for familial amyloidotic polyneuropathy. Transplantation 1997; 63: 675-9.
54. Suhr OB, Ando Y, Ohlsson P-I, Olofsson A, Andersson K, Lundgren E, et al. Investigation into thiol conjugation of transthyretin in hereditary transthyretin amyloidosis. Eur J Clin Invest 1998; 28: 687-92.
55. 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: 519-27.
56. Takahashi K, Sakashita N, Ando Y, Suga M, Ando M. Late onset type I familial amyloidotic polyneuropathy: presentation of three autopsy cases in comparison with 19 autopsy cases of the ordinary type. Pathol Int 1997; 47: 353-9.
57. Takaoka Y, Tashiro F, Yi S, Maeda S, Shimada K, Takahashi K, et al. Comparison of amyloid deposition in two lines of transgenic mouse that model familial amyloidotic polyneuropathy, type I. Transgenic Res 1997; 6: 261-9.
58. Tashima K, Ando Y, Tanaka Y, Uchino M, Ando M. Change in age of onset in patients with familial amyloidotic polyneuropathy type 1 [see comments]. Intern Med 1995; 34: 748-50. Comment in: Intern Med 1995; 34: 703-4.
59. Tashima K, Ando Y, Tanaka Y, Uchino M, Ando M. Change in age of onset in patients with familial amyloidotic polyneuropathy type 1 [see comments]. Intern Med 1995; 34: 748-50. Comment in: Intern Med 1995; 34: 703-4.
60. Yamada M, Hatakeyama S, Tsukagoshi H. Peripheral and autonomic nerve lesions in systemic amyloidosis: Three pathological types of amyloid polyneuropathy. Acta Pathol Jpn 1984; 34: 1251-66.
61. Yamada M, Tsukagoshi H, Satoh J, Ishiai S, Nakazato M, Furuya H, et al. 'Sporadic' prealbumin-related amyloid polyneuropathy: report of two cases. J Neurol 1987; 235: 69-73.
62. Yamamoto K, Ikeda S, Hanyu N, Takeda S, Yanagisawa N. A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy. J Med Genet 1998; 35: 23-30.
63. Yi S, Takahashi K, Naito M, Tashiro F, Wakasugi S, Maeda S, et al. Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met30) gene. Am J Pathol 1991; 138: 403-12.