메뉴 건너뛰기




Volumn 10, Issue SUPPL. 1, 2003, Pages 39-47

Clinical and pathological findings of non-Val30Met TTR type familial amyloid polyneuropathy in Japan

Author keywords

Amyloid; Cardiac amyloidosis; Carpal tunnel syndrome; Neuropathy; Transthyretin

Indexed keywords

PREALBUMIN; VALINE;

EID: 0242391993     PISSN: 13506129     EISSN: None     Source Type: Journal    
DOI: 10.1080/13506129.2003.12088567     Document Type: Conference Paper
Times cited : (11)

References (61)
  • 2
    • 77957180065 scopus 로고
    • A peculiar form of peripheral neuropathy: Familial atypical generalized amyloidosis with special involvement of the peripheral nerves
    • Andrade C (1952). A peculiar form of peripheral neuropathy: familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 75, 408-427
    • (1952) Brain , vol.75 , pp. 408-427
    • Andrade, C.1
  • 3
    • 84981368487 scopus 로고
    • Familial amyloidosis with polyneuropathy
    • Andersson R (1970). Familial amyloidosis with polyneuropathy. Acta Med Scand 188, 85-94
    • (1970) Acta Med Scand , vol.188 , pp. 85-94
    • Andersson, R.1
  • 5
    • 0018904859 scopus 로고
    • Studies on familial amyloid polyneuropathy in Ogawa village, Japan
    • Kito S, Itoga E, Kamiya K, Kishida T and Yamamura Y (1980). Studies on familial amyloid polyneuropathy in Ogawa village, Japan. Eur Neurol 19, 141-151
    • (1980) Eur Neurol , vol.19 , pp. 141-151
    • Kito, S.1    Itoga, E.2    Kamiya, K.3    Kishida, T.4    Yamamura, Y.5
  • 6
    • 0010551538 scopus 로고
    • Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy
    • Costa PP, Figueira AS and Bravo FR (1978). Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy. Proc Natl Acad Sci USA 75, 4499-4503
    • (1978) Proc Natl Acad Sci USA , vol.75 , pp. 4499-4503
    • Costa, P.P.1    Figueira, A.S.2    Bravo, F.R.3
  • 8
    • 0033428635 scopus 로고    scopus 로고
    • Usefulness of MALDI/Tof mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy
    • Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li Y-F, Masuda Y and Ikeda S (1999). Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid: Int J Exp Clin Invest 6, 282-288
    • (1999) Amyloid: Int J Exp Clin Invest , vol.6 , pp. 282-288
    • Tachibana, N.1    Tokuda, T.2    Yoshida, K.3    Taketomi, T.4    Nakazato, M.5    Li, Y.-F.6    Masuda, Y.7    Ikeda, S.8
  • 9
    • 0027103947 scopus 로고
    • Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy
    • Ikeda S, Nakano T, Yanagisawa N, Nakazato M and Tsukagoshi H (1992). Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy. Eur Neurol 32, 308-313
    • (1992) Eur Neurol , vol.32 , pp. 308-313
    • Ikeda, S.1    Nakano, T.2    Yanagisawa, N.3    Nakazato, M.4    Tsukagoshi, H.5
  • 12
    • 0035997528 scopus 로고    scopus 로고
    • Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis
    • Lim A, Prokaeva T, Connors LH, Falk RH, Skinner M and Costello CE (2001). Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis. Amyloid: J Protein Folding Disord 9, 134-140
    • (2001) Amyloid: J Protein Folding Disord , vol.9 , pp. 134-140
    • Lim, A.1    Prokaeva, T.2    Connors, L.H.3    Falk, R.H.4    Skinner, M.5    Costello, C.E.6
  • 13
    • 0037366761 scopus 로고    scopus 로고
    • Transthyretin Tyr69-to-Ile mutation (double-nucleotide substitution in codon 69) in a Japanese familial amyloidosis patient with cardiomyopathy and carpal tunnel syndrome
    • Takei Y, Hattori T, Yazaki M, Tokuda T, Urasawa N, Kanai S and Ikeda S (2003). Transthyretin Tyr69-to-Ile mutation (double-nucleotide substitution in codon 69) in a Japanese familial amyloidosis patient with cardiomyopathy and carpal tunnel syndrome. Amyloid: J Protein Folding Disord 10, 25-28
    • (2003) Amyloid: J Protein Folding Disord , vol.10 , pp. 25-28
    • Takei, Y.1    Hattori, T.2    Yazaki, M.3    Tokuda, T.4    Urasawa, N.5    Kanai, S.6    Ikeda, S.7
  • 14
    • 0025351967 scopus 로고
    • A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases
    • Ueno S, Uemichi T, Yorifuji S and Tarui S (1990). A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases. Biochem Biopys Res Commun 169, 143-147
    • (1990) Biochem Biopys Res Commun , vol.169 , pp. 143-147
    • Ueno, S.1    Uemichi, T.2    Yorifuji, S.3    Tarui, S.4
  • 15
    • 0025311146 scopus 로고
    • Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: Transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg)
    • Ueno S, Uemichi T, Takahashi N, Soga F, Yorifuji S and Tarui S (1990). Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg). Biochem Biopys Res Commun 169, 1117-1121
    • (1990) Biochem Biopys Res Commun , vol.169 , pp. 1117-1121
    • Ueno, S.1    Uemichi, T.2    Takahashi, N.3    Soga, F.4    Yorifuji, S.5    Tarui, S.6
  • 16
    • 0033638147 scopus 로고    scopus 로고
    • Postmortem findings in two familial amyloidosis patients with transthyretin variant Asp38Ala
    • Yazaki M, Takei Y, Katoh M and Ikeda S (2000). Postmortem findings in two familial amyloidosis patients with transthyretin variant Asp38Ala. Amyloid: Int J Exp Clin Invest 7, 270-277
    • (2000) Amyloid: Int J Exp Clin Invest , vol.7 , pp. 270-277
    • Yazaki, M.1    Takei, Y.2    Katoh, M.3    Ikeda, S.4
  • 17
    • 0028214499 scopus 로고
    • Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant
    • Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S and Ando M (1994). Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant. Neurology 44, 315-318
    • (1994) Neurology , vol.44 , pp. 315-318
    • Murakami, T.1    Tachibana, S.2    Endo, Y.3    Kawai, R.4    Hara, M.5    Tanase, S.6    Ando, M.7
  • 19
    • 0032863087 scopus 로고    scopus 로고
    • Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features
    • Misu K, Hattori N, Nagamatsu M, Ikeda S, Ando Y, Nakazato M, Takei Y, Hanyu N, Usui Y, Tanaka F, Harada T, Inukai A, Hashizume Y and Sobue G (1999). Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. Brain 122, 1951-1962
    • (1999) Brain , vol.122 , pp. 1951-1962
    • Misu, K.1    Hattori, N.2    Nagamatsu, M.3    Ikeda, S.4    Ando, Y.5    Nakazato, M.6    Takei, Y.7    Hanyu, N.8    Usui, Y.9    Tanaka, F.10    Harada, T.11    Inukai, A.12    Hashizume, Y.13    Sobue, G.14
  • 20
    • 0026088357 scopus 로고
    • New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis
    • Saeki Y, Ueno S, Yorifuji S, Sugiyama Y, Ide Y and Matsuzawa Y (1991). New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis. Biochem Biopys Res Commun 180, 380-385
    • (1991) Biochem Biopys Res Commun , vol.180 , pp. 380-385
    • Saeki, Y.1    Ueno, S.2    Yorifuji, S.3    Sugiyama, Y.4    Ide, Y.5    Matsuzawa, Y.6
  • 22
    • 0025843472 scopus 로고
    • Transthyretin-type cerebral amyloid angiopathy in type I familial amyloid polyneuropathy
    • Ushiyama M, Ikeda S and Yanagisawa N (1991). Transthyretin-type cerebral amyloid angiopathy in type I familial amyloid polyneuropathy. Acta Neuropathol 81, 524-528
    • (1991) Acta Neuropathol , vol.81 , pp. 524-528
    • Ushiyama, M.1    Ikeda, S.2    Yanagisawa, N.3
  • 23
    • 0001451095 scopus 로고
    • Portuguese polyneuritic familial type of amyloidosis
    • Horta JDS, Filipe I and Duarte S (1964). Portuguese polyneuritic familial type of amyloidosis. Pathol Microbiol 27, 809-825
    • (1964) Pathol Microbiol , vol.27 , pp. 809-825
    • Horta, J.D.S.1    Filipe, I.2    Duarte, S.3
  • 25
    • 0037344272 scopus 로고    scopus 로고
    • Energetic characteristics of the new transthyretin variant A25T may explain its atypical central nervous system pathology
    • Sekijima Y, Hammastrom P, Matsumura M, Shimizu Y, Iwata M, Tokuda T, Ikeda S and Kelly JW (2003). Energetic characteristics of the new transthyretin variant A25T may explain its atypical central nervous system pathology. Lab Invest 83, 409-417
    • (2003) Lab Invest , vol.83 , pp. 409-417
    • Sekijima, Y.1    Hammastrom, P.2    Matsumura, M.3    Shimizu, Y.4    Iwata, M.5    Tokuda, T.6    Ikeda, S.7    Kelly, J.W.8
  • 26
    • 0026592189 scopus 로고
    • Familial amyloid polyneuropathy associated with the transthyretin cys114 gene in a Japanese kindred
    • Ueno S, Fujimura H, Yorifuji S, Nakamura Y, Takahashi M, Tarui S and Yanagihara T (1992). Familial amyloid polyneuropathy associated with the transthyretin cys114 gene in a Japanese kindred. Brain 115, 1275-1289
    • (1992) Brain , vol.115 , pp. 1275-1289
    • Ueno, S.1    Fujimura, H.2    Yorifuji, S.3    Nakamura, Y.4    Takahashi, M.5    Tarui, S.6    Yanagihara, T.7
  • 27
    • 0029730803 scopus 로고    scopus 로고
    • Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly)
    • Garzuly F, Wisniewski T, Brirrig F and Budka H (1996). Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly). Neurology 47, 1562-1567
    • (1996) Neurology , vol.47 , pp. 1562-1567
    • Garzuly, F.1    Wisniewski, T.2    Brirrig, F.3    Budka, H.4
  • 29
    • 0032886881 scopus 로고    scopus 로고
    • Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64
    • Uemichi T, Uitti RJ, Koeppen AH, Donat JR and Benson MD (1999). Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64. Arch Neurol 56, 1152-1155
    • (1999) Arch Neurol , vol.56 , pp. 1152-1155
    • Uemichi, T.1    Uitti, R.J.2    Koeppen, A.H.3    Donat, J.R.4    Benson, M.D.5
  • 31
    • 0022644550 scopus 로고
    • Echocardiographic assessment of the evolution of amyloid heart disease: A study with familial amyloid polyneuropathy
    • Hongo M and Ikeda S (1986). Echocardiographic assessment of the evolution of amyloid heart disease: a study with familial amyloid polyneuropathy. Circulation 73, 249-256
    • (1986) Circulation , vol.73 , pp. 249-256
    • Hongo, M.1    Ikeda, S.2
  • 32
    • 0023096478 scopus 로고
    • Early identification of amyloid heart disease by technetium-99m- pyrophosphate scintigraphy: A study with familial amyloid polyneuropathy
    • Hongo M, Hirayama J, Fujii T, Yamada H, Okubo S, Kusama S and Ikeda S (1987). Early identification of amyloid heart disease by technetium-99m- pyrophosphate scintigraphy: a study with familial amyloid polyneuropathy. Am Heart J 113, 654-662
    • (1987) Am Heart J , vol.113 , pp. 654-662
    • Hongo, M.1    Hirayama, J.2    Fujii, T.3    Yamada, H.4    Okubo, S.5    Kusama, S.6    Ikeda, S.7
  • 33
    • 1642476795 scopus 로고    scopus 로고
    • Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy
    • in press
    • Hattori T, Takei Y, Koyama J, Nakazato M and Ikeda S (2003). Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. Amyloid: J Protein Folding Disord, in press
    • (2003) Amyloid: J Protein Folding Disord
    • Hattori, T.1    Takei, Y.2    Koyama, J.3    Nakazato, M.4    Ikeda, S.5
  • 34
    • 0030942753 scopus 로고    scopus 로고
    • Late onset type I familial amyloidotic polyneuropathy: Presentation of three autopsy cases in comparison with 19 autopsy cases of the ordinary type
    • Takahashi K, Sakashita N, Ando Y, Suga M and Ando M (1997). Late onset type I familial amyloidotic polyneuropathy: presentation of three autopsy cases in comparison with 19 autopsy cases of the ordinary type. Pathol Int 47, 353-359
    • (1997) Pathol Int , vol.47 , pp. 353-359
    • Takahashi, K.1    Sakashita, N.2    Ando, Y.3    Suga, M.4    Ando, M.5
  • 35
    • 0032703097 scopus 로고    scopus 로고
    • A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells
    • Nakamura Y, Yutani C, Nakazato M, Date Y, Baba T and Goto Y (1999). A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells. Pathol Int 49, 898-902
    • (1999) Pathol Int , vol.49 , pp. 898-902
    • Nakamura, Y.1    Yutani, C.2    Nakazato, M.3    Date, Y.4    Baba, T.5    Goto, Y.6
  • 37
    • 0030022521 scopus 로고    scopus 로고
    • Pulmonary amyloidosis. The Mayo Clinic experience from 1980 to 1993
    • Utz JP, Swensen SJ and Gertz MA (1996). Pulmonary amyloidosis. The Mayo Clinic experience from 1980 to 1993. Ann Intern Med 124, 407-413
    • (1996) Ann Intern Med , vol.124 , pp. 407-413
    • Utz, J.P.1    Swensen, S.J.2    Gertz, M.A.3
  • 42
    • 0032741714 scopus 로고    scopus 로고
    • Partial-liver transplantation to treat familial amyloid polyneuropathy: Follow-up of 11 patients
    • Takei Y, Ikeda S, Hashikura Y, Ikegami T and Kawasaki S (1999). Partial-liver transplantation to treat familial amyloid polyneuropathy: follow-up of 11 patients. Ann Intern Med 131, 592-595
    • (1999) Ann Intern Med , vol.131 , pp. 592-595
    • Takei, Y.1    Ikeda, S.2    Hashikura, Y.3    Ikegami, T.4    Kawasaki, S.5
  • 45
    • 0029808637 scopus 로고    scopus 로고
    • Improvement in the polyneuropathy associated with familial amyloid polyneuropathy after liver transplantation
    • Bergethon PR, Sabin TD, Lewis D, Simms RW, Cohen AS and Skinner M (1996). Improvement in the polyneuropathy associated with familial amyloid polyneuropathy after liver transplantation. Neurology 47, 944-951
    • (1996) Neurology , vol.47 , pp. 944-951
    • Bergethon, P.R.1    Sabin, T.D.2    Lewis, D.3    Simms, R.W.4    Cohen, A.S.5    Skinner, M.6
  • 48
    • 0037087692 scopus 로고    scopus 로고
    • Progression of cardiomyopathy after liver transplantation in patients with familial amyloidotic polyneuropathy, Portuguese type
    • Olofsson B-O, Backman C, Karp K and Suhr OB (2002). Progression of cardiomyopathy after liver transplantation in patients with familial amyloidotic polyneuropathy, Portuguese type. Transplantation 73, 745-751
    • (2002) Transplantation , vol.73 , pp. 745-751
    • Olofsson, B.-O.1    Backman, C.2    Karp, K.3    Suhr, O.B.4
  • 49
    • 0030805834 scopus 로고    scopus 로고
    • Progression of ventricular wall thickening after liver transplantation for familial amyloidosis
    • Dubrey SW, Davidoff R, Skinner M, Bergethon P, Lewis D and Falk RH (1997). Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplantation 64, 74-80
    • (1997) Transplantation , vol.64 , pp. 74-80
    • Dubrey, S.W.1    Davidoff, R.2    Skinner, M.3    Bergethon, P.4    Lewis, D.5    Falk, R.H.6
  • 52
    • 0026532881 scopus 로고
    • Familial amyloidotic polyneuropathy: Report of patients heterozygous for the transthyretin Gly42 gene
    • Murakami T, Yi S, Yamamoto K, Maruyama S and Araki S (1992). Familial amyloidotic polyneuropathy: report of patients heterozygous for the transthyretin Gly42 gene. Ann Neurol 31, 340-342
    • (1992) Ann Neurol , vol.31 , pp. 340-342
    • Murakami, T.1    Yi, S.2    Yamamoto, K.3    Maruyama, S.4    Araki, S.5
  • 54
    • 0032782741 scopus 로고    scopus 로고
    • Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotope RNase cleavage assay
    • Nakamura M, Yamashita T, Ando Y, Asl KH, Tashima K, Ohlsson P-I, Kususe Y and Benson MD (1999). Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotope RNase cleavage assay. Hum Hered 49, 186-189
    • (1999) Hum Hered , vol.49 , pp. 186-189
    • Nakamura, M.1    Yamashita, T.2    Ando, Y.3    Asl, K.H.4    Tashima, K.5    Ohlsson, P.-I.6    Kususe, Y.7    Benson, M.D.8
  • 60
    • 0028123755 scopus 로고
    • Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: A Japanese kindred with novel mutant transthyretin (Ala97 to Gly)
    • Yasuda T, Sobue G, Doyu M, Nakazato M, Shiomi K, Yanagi T and Mitsuma T (1994). Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly). J Neurol Sci 121, 97-102
    • (1994) J Neurol Sci , vol.121 , pp. 97-102
    • Yasuda, T.1    Sobue, G.2    Doyu, M.3    Nakazato, M.4    Shiomi, K.5    Yanagi, T.6    Mitsuma, T.7
  • 61
    • 0030788113 scopus 로고    scopus 로고
    • Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues
    • Date Y, Nakazato M, Kangawa K, Shirieda K, Fujimoto T and Matsukura S (1997). Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues. J Neurol Sci 150, 143-148
    • (1997) J Neurol Sci , vol.150 , pp. 143-148
    • Date, Y.1    Nakazato, M.2    Kangawa, K.3    Shirieda, K.4    Fujimoto, T.5    Matsukura, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.