Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy

References

• Connors L H, Richardson A M, Theberge R, Costello C E. Tabulation of transthyretin (TTR) variants as of 1/1/ 2000. Amyloid: Int J Exp Clin Invest 2000; 7: 54–69
   PubMed Web of Science ®Google Scholar
• Ikeda S, Nakazato M, Ando Y, Sobue G. Familial transthyretin type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology 2002; 58: 1001–1007
   PubMed Web of Science ®Google Scholar
• Plehn J F, Friedman B J. Diastolic dysfunction in amyloid heart disease: restrictive cardiomyopathy or not?. J Am Coll Cardiol 1989; 13: 54–56
   PubMedGoogle Scholar
• De Freitas A F, Barbedo A. Conduction disturbances in 190 patients with familial amyloidotic polyneuropathy (Andrade's type). Adv Cardiol 1978; 21: 206–209
   PubMedGoogle Scholar
• Sawayama T, Kurihara T, Araki S. Noninvasive cardiovascular findings in familial amyloid polyneuropathy. Br Heart J 1978; 40: 1288–1292
   PubMedGoogle Scholar
• Olofsson B O, Anderson R, Furberg B. Atrioventricular and intraventricular conduction in familial amyloidosis with polyneuropathy. Acta Med Acand 1980; 208: 77–80
   PubMedGoogle Scholar
• 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 cases of the ordinary type. Pathol Int 1997; 47: 353–359
   PubMed Web of Science ®Google Scholar
• Nakamura Y, Yutani C, Nakazato M, Date Y, Baba T, Goto Y. A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells. Pathol Int 1999; 49: 898–902
   PubMed Web of Science ®Google Scholar
• Jacobson D R, McFarlin D E, Kane I, Buxbaum J N. Transthyrein Pro55, a variant associated with early‐onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. Hum Genet 1992; 89: 353–356
   PubMed Web of Science ®Google Scholar
• Takahashi N, Ueno S, Uernichi T, Fujimura H, Yorifuji S, Tarui S. Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. J Neurol Sci 1992; 112: 58–64
   PubMed Web of Science ®Google Scholar
• Hesse A, Altland K, Linke R P, Almeida M R, Saraiva M J M, Steinmetz A, Maisch B. Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. Br Heart J 1993; 70: 111–115
   PubMedGoogle Scholar
• Yazaki M, Takei Y, Katoh M, Ikeda S. Postmortem findings in two familial amyloidosis patients with transthyretin variant Asp38Ala. Amyloid: Int J Exp Clin Invest 2000; 7: 270–277
   PubMed Web of Science ®Google Scholar
• Dubrey S W, Davidoff R, Skinner M, Bergethon P, Lewis D, Falk R H. Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplantation 1997; 64: 74–80
   PubMed Web of Science ®Google Scholar
• Stangou A J, Hawkins P N, Heaton N D, Rela M, Monaghan M, Nihoyannopoulos P, O'Grady J, Pepys M B, Williams R. Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy. Transplantation 1998; 66: 229–233
   PubMed Web of Science ®Google Scholar
• Garcia‐Herola A, Prieto M, Pascual S, Berenguer M, Lopez‐Viedma B, Mir J, Vilchez J J, Berenguer J. Progression of cardiomyopathy and neuropathy after liver transplantation in a patient with familial amyloidotic polyneuropathy caused by tyrosine‐77 transthyretin variant. Liver Transpl Surg 1999; 5: 246–248
   PubMedGoogle Scholar
• Ikeda S, Nakano T, Yanagisawa N, Nakazato M, Tsukagoshi H. Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy. Eur Neurol 1992; 32: 308–313
   PubMed Web of Science ®Google Scholar
• Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li Y ‐F, Masuda Y, Ikeda S. Usefulness of MALD‐TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid: Int J Exp Clin Invest 1999; 6: 282–288
   PubMed Web of Science ®Google Scholar
• Kito S, Itoga E, Kamiya K, Kishida T, Yamamura Y. Studies on familial amyloid polyneuropathy in Ogawa Village. Eur Neurol 1980; 19: 141–151
   PubMed Web of Science ®Google Scholar
• 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, Sobue G. Late‐onset familial amyloid polyneuropathy type I (transthyretin Met30‐associ‐ated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. Brain 1999; 122: 1951–1962
   PubMed Web of Science ®Google Scholar
• Westermark P, Araki S, Benson M D, Cohen A S, Frangione B, Masters C L, Saraiva M J, Sipe I D, Husby G, Kyle R A, Selkoe D. Nomencalture of amyloid fibril protein. Amyloid: Int J Exp Clin Invest 1999; 6: 63–66
   PubMedGoogle Scholar
• Sigueira‐Filho A G, Cunha C L P, Tajik A J, Seward J B, Schattenberg T T, Giuliani E R. M‐mode and two‐dimensional echocardiographic features in cardiac amyloi‐dosis. Circulation 1981; 63: 188–196
   PubMedGoogle Scholar
• Hongo M, Ikeda S. Echocardiographic assessment of the evolution of amyloid heart disease: a study with familial amyloid polyneuropathy. Circulation 1986; 73: 249–256
   PubMed Web of Science ®Google Scholar
• Wizenberg T A, Muz J, Sohn Y H, Samlowski W, Weissler A M. Value of positive myocardial technetium‐99m‐pyrophosphate scintigraphy in the noninvasive diagnosis of cardiac amyloidosis. Am Heart J 1982; 103: 468–473
   PubMed Web of Science ®Google Scholar
• Hongo M, Hirayama J, Fuji T, Yamada H, Okubo S, Kusama S, Ikeda S. Early identification of amyloid heart disease by technetium‐99m‐pyrophosphate scintigraphy: a study with familial amyloid polyneuropathy. Am Heart J 1987; 113: 654–662
   PubMed Web of Science ®Google Scholar
• Roberts W C, Waller B F. Cardiac amyloidosis causing cardiac dysfunction: analysis of 54 necropsy patients. Am J Cardiol 1983; 52: 137–146
   PubMed Web of Science ®Google Scholar
• Andrade C. A peculiar form of peripheral neuropathy: familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952; 110: 408–427
   Web of Science ®Google Scholar
• Andersson R. Familial amyloidosis with polyneuropathy. A clinical study on patients living in northern Sweden. Acta med scand Suppl 1976; 590: 1–64
   PubMedGoogle Scholar
• Araki S, Mawatari S, Ohta M, Nakajima A, Kuroiwa Y. Polyneuritic amyloidosis in a Japanese family. Arch Neurol 1968; 18: 593–602
   PubMed Web of Science ®Google Scholar
• Ikeda S, Hanyu N, Hongo M, Yoshioka J, Oguchi H, Yanagisawa N, Kobayashi T, Tsukagoshi H, Ito N, Yokota T. Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients. Brain 1987; 110: 315–337
   PubMed Web of Science ®Google Scholar
• Eriksson P, Backman C, Eriksson A, Eriksson S, Kapp K, Olofsson B ‐O. Differentiation of cardiac amyloidosis and hypertrophic cardiomyopathy. Acta Med Scand 1987; 221: 39–46
   PubMed Web of Science ®Google Scholar
• Eriksson P, Backman C, Bjerle P, Eriksson A, Holm S, Olofsson B ‐O. Non‐invasive assessment of the presence and severity of cardiac amyloidosis. A study in familial amyloidosis with polyneuropathy by cross sectional echocardiography and technetium‐99m‐pyrophospahte scintigraphy. Br Heart J 1984; 52: 321–326
   PubMedGoogle Scholar
• Rukavina J G, Block W D, Jackson C E, Falls H F, Cary J H, Curtis A C. Primary systemic amyloidosis: a review and an experimental genetic and clinical study of 29 cases with particular emphasis on the familial form. Medicine 1956; 35: 239–334
   PubMed Web of Science ®Google Scholar
• Benson M D, Wallace M R, Tejada E, Baumann H, Page B. Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy, Appalachian amyloid. Arthritis Rheum 1987; 30: 195–200
   PubMed Web of Science ®Google Scholar
• Connors L H, Theberge R, Skare J, Costello C E, Falk R H, Skinner M. A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. Amyloid: Int J Exp Clin Invest 1999; 6: 114–118
   PubMed Web of Science ®Google Scholar
• Dupuy O, Bletry O, Blanc A ‐S, Droz D, Viemont M, Delpech M, Grateau G. A novel variant of transthyretin (Glu42Asp) associated with sporadic late‐onset cardiac amyloidosis. Amyloid: Int J Exp Clin Invest 1998; 5: 285–287
   PubMed Web of Science ®Google Scholar
• Janunger T, Anan I, Holmgren G, Lovheim O, Ohlsson P ‐I, Suhr O B, Tashima K. Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser. Amyloid: Int J Exp Clin Invest 2000; 7: 137–140
   PubMed Web of Science ®Google Scholar
• Nishi H, Kimura A, Harada H, Hayashi Y, Nakamura M, Sasazuki T. Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis. Biochem Biophys Res Commun 1992; 187: 460–466
   PubMedGoogle Scholar
• Almeida M R, Hesse A, Steinmetz A, Maisch B, Altlamd K, Linke R P, Gawinowicz M A, Saraiva M J M. Transthyretin Leu 68 in a form of cardiac amyloidosis. Basic Res Cardiol 1991; 86: 567–571
   PubMed Web of Science ®Google Scholar
• Jacobson D R, Pastore R D, Yaghoubian R, Kane I, Gallo G, Buck F S, Buxbaum J N. Variant‐sequence transthyretin (isoleucine 122) in late‐onset cardiac amyloidosis in black Americans. N Engl J Med 1997; 336: 466–473
   PubMed Web of Science ®Google Scholar
• Nakazato M, Ikeda S, Shiomi K, Matsukura S, Yoshida K, Shimizu H, Atsumi T, Kangawa K, Matsuo H. Identification of a novel transthyretin variant (Va130Leu) associated with familial amyloidotic polyneuropathy. FEBS Lett 1992; 306: 206–208
   PubMed Web of Science ®Google Scholar
• Shimizu H, Ishikawa K, Kobayashi H, Murakami T, Nakazato M, Miura K, Atsumi T. Familial amyloidotic polyneuropathy with a transthyretin variant (Val30Leu). Brain Nerve 1996; 48: 175–178, in Japanese
   PubMedGoogle Scholar
• Yamamoto K, Hsu S ‐P, Yoshida K, Ikeda S, Nakazato M, Shiomi K, Cheng S ‐Y, Furihata K, Ueno I, Yanagisawa N. Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55 Pro). Muscle Nerve 1994; 17: 637–641
   PubMed Web of Science ®Google Scholar
• Kotani N, Hattori T, Yamagata S, Tokuda T, Shirasawa A, Yamaguchi S, Kobayashi S, Ikeda S. Transthyretin Thr60Ala Appalachian‐type mutation in a Japanese family with familial amyloidotic polyneuropathy. Amyloid: J Protein Folding Disord 2001; 9: 31–34
   Web of Science ®Google Scholar
• Takei Y, Hattori T, Yazaki M, Tokuda T, Urasawa N, Kanai S, Ikeda S. 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 2003; 10: 25–28
   PubMed Web of Science ®Google Scholar
• Yasuda T, Sobue G, Doyu M, Nakazato M, Shiomi K, Yanagi T, Mitsuma T. Familial amyloidotic polyneuropathy with late‐onset and well‐preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly). J Neurol Sci 1994; 121: 97–102
   PubMed Web of Science ®Google Scholar
• Ueno S, Fujimura H, Yorifuji S, Nakamura Y, Takahashi M, Tarui S, Yanagihara T. Familial amyloid polyneuropathy associated with the transthyretin Cys 114 gene in a Japanese kindred. Brain 1992; 115: 1275–1289
   PubMed Web of Science ®Google Scholar
• Mochizuki H, Kamakura K, Masaki T, Hirata A, Tokuda T, Yazaki M, Motoyoshi K, Ikeda S. Nodular cutaneous amyloidosis and carpal tunnel syndrome due to the amyloidogenic transthyretin His 114 variant. Amyloid: J Protein Folding Disord 2001; 8: 105–110
   PubMed Web of Science ®Google Scholar