• 1
    Andersson R. Familial amyloidosis with polyneuropathy. A clinical study based on patients living in northern Sweden. Acta Med Scand Suppl 1976; 590: 164.
  • 2
    Fredriksen T, Gøtzsche H , Harboe N, Kiaer W, Mellemgaard K. Familial primary amyloidosis with severe amyloid heart disease. Am J Med 1962; 33: 32548.
  • 3
    Suhr OB, Herlenius G, Friman S, Ericzon BG. Liver transplantation for hereditary transthyretin amyloidosis. Liver Transpl 2000; 6: 26376.
  • 4
    Westermark P, Sletten K, Johansson B, Cornwell GGd. Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc Natl Acad Sci USA 1990; 87: 28435.
  • 5
    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: 2426.
  • 6
    Beirao I, Lobato L, Riedstra S, Costa PM, Pimentel S, Guimaraes S. Ineffectiveness of dialysis in transthyretin (TTR) clearance in familial amyloid polyneuropathy type I, in spite of lower stability of the TTR Met30 variant. Clin Nephrol 1999; 51: 459.
  • 7
    Kelly JW, Colon W, Lai Z et al. Transthyretin quaternary and tertiary structural changes facilitate misassembly into amyloid. Adv Protein Chem 1997; 50: 16181.
  • 8
    Hardt F, Ranlov P. Transfer amyloidosis. Int Rev Exp Pathol 1976; 16: 273334.
  • 9
    Johan K, Westermark G, Engstrom U, Gustavsson A, Hultman P, Westermark P. Acceleration of amyloid protein A amyloidosis by amyloid-like synthetic fibrils. Proc Natl Acad Sci USA 1998; 95: 255863.
  • 10
    Mambule C, Ando Y, Anan I et al. Enhancement of AA-amyloid formation in mice by transthyretin amyloid fragments and polyethylene glycol. Biochim Biophys Acta 2000; 1474: 3316.
  • 11
    Ranlov P. The adoptive transfer of experimental mouse amyloidosis by intravenous injections of spleen cell extracts from casein-treated syngeneic donor mice. Acta Pathol Microbiol Scand 1967; 70: 32135.
  • 12
    Benson M, Uemichi T. Tranthyretin amyloidosis. Amyloid 1996; 3: 4456.
  • 13
    Jacobson DR, Pastore RD, Yaghoubian R et al. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans [see comments]. N Engl J Med 1997; 336: 46673.
  • 14
    Drugge U, Holmgren G, Udd B. The first case of familial amyloidotic polyneuropathy (FAP Met30) in the Finnish population. Hum Hered 1992; 42: 1848.
  • 15
    Andrade C. A peculiar form of peripheral neuropathy. Familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. 1952; 75: 40827.
  • 16
    Araki S, Kurihara T, Tawara S, Kuribayashi T. Familial Amyloidotic Polyneuropathy in Japanese. In: Glenner GG, eCosta PP, de Freitas AF. Eds. Amyloid and Amyloidosis. Amsterdam: Excerpta Medica, 1989; 6777.
  • 17
    Palacios SA, Bittencourt PL, Cancado EL et al. Familial amyloidotic polyneuropathy type 1 in Brazil is associated with the transthyretin Val30Met variant. Amyloid 1999; 6: 28991.
  • 18
    Tashima K, Suhr OB, Ando Y et al. Gastrointestinal dysfunction in familial amyloidotic polyneuropathy (ATTR Val30Met) – comparison of Swedish and Japanese patients. Amyloid 1999; 6: 1249.
  • 19
    Husby G, Ranlov PJ, Sletten K, Marhaug G. The amyloid in familial amyloid cardiomyopathy of Danish origin is related to pre-albumin. Clin Exp Immunol 1985; 60: 20716.
  • 20
    Ranlov I, Alves IL, Ranlov PJ, Husby G, Costa PP, Saraiva MJ. A Danish kindred with familial amyloid cardiomyopathy revisited: identification of a mutant transthyretin-methionine111 variant in serum from patients and carriers [see comments]. Am J Med 1992; 93: 38.
  • 21
    Svendsen IH, Steensgaard-Hansen F, Nordvag BY. A clinical, echocardiographic and genetic characterization of a Danish kindred with familial amyloid transthyretin methionine 111 linked cardiomyopathy [see comments]. Eur Heart J 1998; 19: 7829.
  • 22
    Janunger T, Anan I, Holmgren G et al. Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser. Amyloid 2000; 7: 13740.
  • 23
    Holmgren G, Haettner E, Nordenson I, Sandgren O, Steen L, Lundgren E. Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy. Clin Genet 1988; 34: 3338.
  • 24
    Holmgren G, Bergstrom S, Drugge U et al. Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. Clin Genet 1992; 41: 3941.
  • 25
    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: 30813.
  • 26
    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: 3514.
  • 27
    Longo Alves I, Hays MT, Saraiva MJ. Comparative stability and clearance of [Met30]transthyretin and [Met119]transthyretin. Eur J Biochem 1997; 249: 6628.
  • 28
    Almeida MR, Alves IL, Terazaki H, Ando Y, Saraiva MJ. Comparative studies of two transthyretin variants with protective effects on familial amyloidotic polyneuropathy: TTR R104H and TTR T119M. Biochem Biophys Res Commun 2000; 270: 10248.
  • 29
    Terazaki H, Ando Y, Misumi S et al. A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels. Biochem Biophys Res Commun 1999; 264: 36570.
  • 30
    Holmgren G, Ando Y, Wikström L, Rydh A, Suhr O. Discordant symptoms in monozygotic twins with familial amyloidotic polyneuropathy (FAP) (TTR met 30). 1997; 4: 17880.
  • 31
    Munar-Ques M, Pedrosa JL, Coelho T et al. Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. J Med Genet 1999; 36: 62932.
  • 32
    Drugge U, Andersson R, Chizari F et al. Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis. J Med Genet 1993; 30: 38892.
  • 33
    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: 4805.
  • 34
    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: 2330.
  • 35
    Ando Y, Suhr O, Tashima K, Yamashita T, Ando M. What is genetic anticipation?[letter]. Lancet 1996; 348: 3312.
  • 36
    Petersen RB, Goren H, Cohen M et al. Transthyretin amyloidosis: a new mutation associated with dementia. Ann Neurol 1997; 41: 30713.
  • 37
    Uemichi T, Uitti RJ, Koeppen AH, Donat JR, Benson MD. Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64. Arch Neurol 1999; 56: 11525.
  • 38
    Vidal R, Garzuly F, Budka H et al. Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G) [see comments]. Am J Pathol 1996; 148: 3616.
  • 39
    Olofsson BO, Grankvist K, Olsson T et al. Assessment of hypothalamic-pituitary function in patients with familial amyloidotic polyneuropathy. J Intern Med 1991; 229: 559.
  • 40
    Olofsson BO, Grankvist K, Boman K, Forsberg K, Lafvas I, Lithner F. Assessment of thyroid and adrenal function in patients with familial amyloidotic polyneuropathy. J Intern Med 1989; 225: 33741.
  • 41
    Conceicao I, Dias M, De Carvalho M, Saraiva MJ, Sales luis ML. Clinical variability of familial amyloidotic polyneuropathy type 1 in late onset families. The 4th International Symposium on Familial Amylodotic Polyneuropathy and Other Transthyretin Related Disorders and the 3rd International Workshop on Liver Transplantation in Familial Amyloid Polyneuropathy, Umeå, 1999.
  • 42
    Ikeda S, Nakazato M, Ando Y, Sobue G. Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology 2002; 58: 10017.
  • 43
    Ando Y, Suhr OB. Autonomic dysfunction in familial amyloidotic polyneuropathy (FAP). Amyloid 1998; 5: 288300.
  • 44
    Olofsson BO, Suhr O, Niklasson U, Wiklund U, Bjerle P, Beckman A. Assessment of autonomic nerve function in familial amyloidotic polyneuropathy: a clinical study based on spectral analysis of heart rate variability. Amyloid 1994; 1: 13842.
  • 45
    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: 50712.
  • 46
    Yonehara T, Ando Y, Kimura K, Uchino M, Ando M. Detection of reverse flow by duplex ultrasonography in orthostatic hypotension. Stroke 1994; 25: 240711.
  • 47
    Eriksson P, Backman C, Bjerle P, Eriksson A, Holm S, Olofsson BO. 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 pyrophosphate scintigraphy. Br Heart J 1984; 52: 3216.
  • 48
    Eriksson P, Olofsson BO. Pacemaker treatment in familial amyloidosis with polyneuropathy. Pacing Clin Electrophysiol 1984; 7: 7026.
  • 49
    Olofsson BO, Andersson R, Furberg B. Atrioventricular and intraventricular conduction in familial amyloidosis with polyneuropathy. Acta Med Scand 1980; 208: 7780.
  • 50
    Steen L, Ek B. Familial amyloidosis with polyneuropathy. A long-term follow-up of 21 patients with special reference to gastrointestinal symptoms. Acta Med Scand 1983; 214: 38797.
  • 51
    Suhr O, Danielsson A, Holmgren G, Steen L. Malnutrition and gastrointestinal dysfunction as prognostic factors for survival in familial amyloidotic polyneuropathy. J Intern Med 1994; 235: 47985.
  • 52
    Suhr O, Danielsson A, Steen L. Bile acid malabsorption caused by gastrointestinal motility dysfunction? An investigation of gastrointestinal disturbances in familial amyloidosis with polyneuropathy. Scand J Gastroenterol 1992; 27: 2017.
  • 53
    Nyhlin N, Anan I, El-Salhy M, Ando Y, Suhr OB. Endocrine cells in the upper gastrointestinal tract in relation to gastrointestinal dysfunction in patients with familial amyloidotic polyneuropathy. Amyloid 1999; 6: 1928.
  • 54
    Anan I, El-Salhy M, Ando Y et al. Colonic enteric nervous system in patients with familial amyloidotic neuropathy. Acta Neuropathol (Berl) 1999; 98: 4854.
  • 55
    El-Salhy M, Suhr O, Stenling R, Wilander E, Grimelius L. Impact of familial amyloid associated polyneuropathy on duodenal endocrine cells. Gut 1994; 35: 14138.
  • 56
    Lobato L, Beirao I, Guimaraes SM et al. Familial amyloid polyneuropathy type I (Portuguese): distribution and characterization of renal amyloid deposits. Am J Kidney Dis 1998; 31: 9406.
  • 57
    Steen L, Wahlin A, Bjerle P, Holm S. Renal function in familial amyloidosis with polyneuropathy. Acta Med Scand 1982; 212: 2336.
  • 58
    Andersson R, Bjerle P. Studies of urinary bladder dysfunction in amyloidosis with polyneuropathy. 1975; 197: 11723.
  • 59
    Sandgren O, Drugge U, Holmgren G, Sousa A. Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study. Clin Genet 1991; 40: 45260.
  • 60
    Olsen KE, Sletten K, Westermark P. The use of subcutaneous fat tissue for amyloid typing by enzyme-linked immunosorbent assay. Am J Clin Pathol 1999; 111: 35562.
  • 61
    Maruyama K, Ikeda S, Yanagisawa N, Nakazato M. Diagnostic value of abdominal fat tissue aspirate in familial amyloid polyneuropathy. J Neurol Sci 1987; 81: 118.
  • 62
    Holmgren G, Lundgren E, Kangawa K et al. Diagnostic radioimmunoassay and DNA-analysis in Swedish and Japanese patients with familial amyloidotic polyneuropathy. Homozygosity for the TTR met30 gene. Acta Neurol Scand 1993; 87: 1247.
  • 63
    Ando Y, Ohlsson PI, Suhr O et al. A new simple and rapid screening method for variant transthyretin-related amyloidosis. Biochem Biophys Res Commun 1996; 228: 4803.
  • 64
    Holmgren G, Ericzon BG, Groth CG et al. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet 1993; 341: 11136.
  • 65
    Furtado A, Tome L, Oliveira FJ, Furtado E, Viana J, Perdigoto R. Sequential liver transplantation. Transplant Proc 1997; 29: 4678.
  • 66
    Bittencourt PL, Couto CA, Leitao RM et al. No evidence of de novo amyloidosis in recipients of domino liver transplantation: 12 to 40 (mean 24) month follow-up. Amyloid 2002; 9: 1946.
  • 67
    Adams D, Samuel D, Goulon-Goeau C et al. The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. Brain 2000; 123: 1495504.
  • 68
    Ikeda S, Takai Y, Yanagisawa N et al. Partial liver transplantation from living donors in familial amyloid polyneuropathy. 1997; 4: 1823.
  • 69
    de Carvalho M, Conceicao I, Bentes C, Luis ML. Long-term quantitative evaluation of liver transplantation in familial amyloid polyneuropathy (Portuguese V30M). Amyloid 2002; 9: 12633.
  • 70
    Parrilla P, Ramirez P, Andreu LF et al. Long-term results of liver transplantation in familial amyloidotic polyneuropathy type I. Transplantation 1997; 64: 6469.
  • 71
    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: 94451.
  • 72
    Suhr OB, Holmgren G, Steen L et al. Liver transplantation in familial amyloidotic polyneuropathy. Follow-up of the first 20 Swedish patients. Transplantation 1995; 60: 9338.
  • 73
    Jonsen E, Suhr OB, Tashima K, Athlin E. Early liver transplantation is essential for familial amyloidotic polyneuropathy patients’ quality of life. Amyloid 2001; 8: 527.
  • 74
    Lång K, Wikström L, Danielsson Å , Tashima K, Suhr OB. Outcome of gastrointestinal complications after liver transplantation for familial amyloidotic polyneuropathy. Scand J Gastroenterol 2000; 35: 9859.
  • 75
    Anan I, El-Salhy M, Nyhlin N, Suhr OB. Liver transplantation restores endocrine cells in patients with familial amyloidotic polyneuropathy [In Process Citation]. Transplantation 2000; 70: 7949.
  • 76
    Suhr OB, Ericzon BG, Friman S. Long-term follow-up of survival of liver transplant recipients with familial amyloid polyneuropathy (Portuguese type). Liver Transpl 2002; 8: 78794.
  • 77
    Nowak G, Suhr O, Wikström L, Wilczek H, Ericzon B-G. Long-term impact of liver transplantation on familial amyloidotic polyneuropathy patients’ kidney function. The 5th International Symposium on Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders and the 4th International Workshop on Liver Transplantation in Familial Amyloid Polyneuropathy, September, Matsumoto, Japan, 2002; 33.
  • 78
    Stangou AJ, Hawkins PN, Heaton ND et al. Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy: implications for amyloid fibrillogenesis. Transplantation 1998; 66: 22933.
  • 79
    Pomfret EA, Lewis WD, Jenkins RL et al. Effect of orthotopic liver transplantation on the progression of familial amyloidotic polyneuropathy. Transplantation 1998; 65: 91825.
  • 80
    Olofsson BO, Backman C, Karp K, Suhr OB. Progression of cardiomyopathy after liver transplantation in patients with familial amyloidotic polyneuropathy, Portuguese type. Transplantation 2002; 73: 74551.
  • 81
    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: 7026.
  • 82
    Svendsen IH, Mortensen SA, Kirkegaard P et al. Combined heart and liver transplantation for familial amyloid cardiomyopathy (ATTR Leu111Met). The 4th International Symposium on Familial Amylodotic Polyneuropathy and Other Transthyretin Related Disorders and the 3rd International Workshop on Liver Transplantation in Familial Amyloid Polyneuropathy, 1999.
  • 83
    Dinanian S, Moraru I, Adams D, Samuel D, Le Guludec D, Slama M. Progression of cardiac conduction disturbances after liver transplantation for familial amyloidosis. First International Congress on Transthyretin in Health and Disease, April, Strasbourg, France, 2002, 86.
  • 84
    Ando Y, Ando E, Tanaka Y et al. Denovo amyloid synthesis in ocular tissue in familial amyloidotic polyneuropathy after liver transplantation [letter]. Transplantation 1996; 62: 10378.
  • 85
    Munar-Ques M, Salva-Ladaria L, Mulet-Perera P, Sole M, Lopez-Andreu FR, Saraiva MJ. Vitreous amyloidosis after liver transplantation in patients with familial amyloid polyneuropathy: ocular synthesis of mutant transthyretin. [In Process Citation]. Amyloid 2000; 7: 2669.
  • 86
    Sousa MM, Yan SD, Stern D, Saraiva MJ. Interaction of the receptor for advanced glycation end products (RAGE) with transthyretin triggers nuclear transcription factor kB (NF-kB) activation. Lab Invest 2000; 80: 110110.