Peripheral nerve amyloidosis

Brain Pathology

Volumn 6, Issue 2, 1996, Pages 163-177

  Reilly, Mary M ^a,c   Staunton, Hugh ^b  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b BEAUMONT HOSPITAL   (Ireland)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA 2 MICROGLOBULIN;

AMYLOID NEUROPATHY; AMYLOIDOSIS; FAMILIAL DISEASE; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; MOLECULAR GENETICS; PERIPHERAL NERVE; REVIEW;

EID: 0029894228     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.1996.tb00798.x     Document Type: Review

References (118)

1. Allard SA, King RH, Thomas PK, Bourke BE (1991) Haemarthrosis due to fracture through amyloid deposits in bone in Portuguese familial amyloidosis Ann Rheum Dis 50: 820-822
2. Almeida MR, Gawinowicz MA, Costa PP, Salvi F, Ferlini A, Plasmati R, Tassinari C, Saraiva MJ (1990) A new transthyretin variant associated with familial amyloidotic polyneuropathy in an Italian kindred. Proceedings from the V1th International Symposium on Amyloidosis, Oslo 1990. In: Amyloid and Amyloidosis, Natvig JB, Forre O, Husby G, Westermark P (eds.), pp. 599-602, Kluver: Doordrecht
3. Almeida MDR, Ferlini A, Forabosco A, Gawinowicz MA, Costa P, Salvi S, Plasmati R, Tassinari CA, Altland K, Saraiva MJ (1992a) A new transthyretin (TTR) variant (TTR Gln 89) in a Sicilian kindred with hereditary amyloidosis. In: Abstracts of the 2nd International Symposium on Familial Amyloidotic Polyneuropathy and other Transthyretin Related Disorders, pp. P17, Skellefteå: Sweden
4. Almeida MDR, Ferlini A, Forabosco A, Gawinowicz MA, Costa PP, Salvi F, Plasmati R, Tassinari CA, Altland K, Saraiva MJ (1992b) Two transthyretin variants (TTR Ala49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. Human Mutation 1. 211-215
5. Almeida MR, Sasaki H, Sasaki Y, Salvi F, Ferlini A, Costa PP, Saraiva MJ (1993a) Haplotype analysis of different FAP individuals with methionine 30 mutation in Europe. Arquivos de Medicina 3: 189-192
6. Alves IL, Divino C, Schussler G, Altland K, Almeida MR, Becher P, Pahla JA, Coehio T, Costa PP, Saraiva MJM (1992) A compound heterozygotic individual for two transthyretin variants presenting increased thyroxine binding capacity. In: Abstracts of the 2nd International Symposium on Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders, pp. 010, Skellefteå: Sweden
7. Andersson R (1970) Hereditary amyloidosis with polyneuropathy. Acta Med Scand 188. 85-94
8. Ando Y, Tanaka Y, Ueyama H, Sakashita N, Yonehara T, Higuchi K, Araki S (1993) Low plasma apolipoprotein A-II levels in human and mouse amyloidosis with mutant transthyretin (Met-30) gene. Ann Neurol 33: 101-103
9. Andrade C (1952) A peculiar form of peripheral neuropathy. Brain 75: 408-427
10. Araki S, Mawatari S, Ohta M, Nakajima A, Kuroiwa Y (1968) Polyneuritic amyloidosis in a Japanese family. Arch Neurol 18: 593-602
11. Benson MD, Wallace MR, Tejada E, Baumann H, Page B (1987) Hereditary amyloidosis. Description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid. Arthritis Rheum 30: 195-200
12. Benson MD (1989) Familial amyloid ployneuropathy. Trends Neurosci 12: 88-92
13. Benson MD (1991) Inherited amyloidosis. J Med Genet 28: 73-78
14. Benson II MD, Julien J, Liepnieks J, Zeldenrust S, Benson MD (1993a) A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family. J Med Genet 30: 117-119
15. Benson II MD, Turpin JC, Lucotte G, Zeldenrust S, LeChecalier B, Benson MD (1993b) A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family J Med Genet 30: 120-122
16. Bhatia K, Reilly M, Adams D, Davis MB, Hawkes CH, Thomas PK, Said G, Harding AE (1993) Transthyretin gene mutations in British and French patients with amyloid neuropathy. J Neurol Neurosurg Psychiatry 56: 694-697
17. Bosh EP, Smith BE (1993) Peripheral neuropathies associated with monoclonal proteins Med Clin of North America 77: 125-138
18. Boysen G, Galassi G, Kamienecka J, Schlaeger J, Trojaborg W (1979) Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. J Neurol Neurosurg Psychiatry 42. 1020-1030
19. Coehlo T, Carvalho M, Saraiva MJ, Alves I, Almeida MR, Costa PP (1992) A strikingly benign evolution of FAP in an individual found to be a compound heterozygote for two TTR mutations: TTR MET 30 and TTR MET 119 In: Abstracts of the 2nd International Symposium on Familial Amyloidotic Polyneuropathy and Other Transthyretim Related Disorders, pp. 019, Skellefteå: Sweden
20. Coehlo T, Sousa A, Lourenco E, Ramalheira J (1994) A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. J Med Genet 31: 293-299
21. Cohen AS, Benson MD (1975) Amyloid neuropathy In: Peripheral Neuropathy, Dyck PJ, Thomas PK, Lambert EH (eds.), pp 1067-1091, WB Saunders: Philadelphia
22. Coimbra A, Andrade C (1971) Familial amyloid polyneuropathy. An electron microscope study of the peripheral nerve in five cases I Interstitial changes. Brain 94 199-206
23. Costa P, Figueira AS, Bravo RR (1978) Amyloid fibril protein related to pre-albumin in familial amyloidotic polyneuropathy. Proc Natl Acad Sci USA 75 4499-4503
24. Costa PMP, Texeira A, Saraiva MJM, Costa PP (1993) Immunoassay for transthyretin variants associated with amyloid neuropathy. Scand J Immunol 38: 177-182
25. Cotton RGH (1989) Detection of single base changes in nucleic acids. Biochem J 263: 1-10
26. de le Chapelle A, Tolvanan R, Boysen G, Santavy J, Bleeker-Wagemakers L, Maury CPJ, Kere J (1992) Gelsolin derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nature Genetics 2: 157-160
27. Diaz Lobato S, Guerrero E, Gonzalez P, Crespo M, Esteban R, Villasante C (1991) Pulmonary involvement in familial amyloid polyneuropathy type 1. Rev Clin Esp 189: 335-337
28. Di Iono G, Sanges G, Cerrachio A, Sampaolo S, Sannino V, Bonavita V (1993) Familial amyloidotic polyneuropathy: description of an Italian kindred., Ital J Neurol Sci 14: 303-309
29. Dwulet FE, Benson MD (1983) Polymorphism of human plasma thyroxine binding prealbumin. Biochem Biophys Res Commun 114: 657-662
30. Dwulet FE, Benson MD (1984) Primary structure of an amyloid pre-albumin and its plasma precursor in a heredo-familial polyneuropahty of Swedish origin. Proc Natl Acad Sci USA 81. 694-698
31. Dwulet FE, Benson MD (1986) Characterization of a transthyretin (pre-albumin) variant associated with familial amyloidotic polyneuropathy, type 11 (Indiana/Swiss). J Clin Invest 78: 880-886
32. Dyck PJ, Lambert EH (1969) Dissociated sensation in amyloidosis. Arch Neurol 20: 490-507
33. Fonseca C, Ceia F, Nogueira JS, Alves M, Carvalho M, Luis M de L, Luis AS (1991) Myocardiopathy caused by Portuguese-type familial amyloidotic polyneuropathy. Sequential morphological and functional study of 60 patients. Rev Port Cardiol 10: 909-916
34. Ghiso J, Haltia M, Prelli F, Novello J, Frangione B (1990) Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. Biochem J 272: 827-830
35. Gorevic PD, Munoz PC, Gorgone G et al (1991) Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. N Engl J Med 325: 1780-1785
36. Hamilton JA, Steinrauf LK, Braden BC, Murrel JR, Liepnieks JJ, Holmgren G, Sandgren O, Steen L, Benson MD (1992) Comparison of the high resolution X-ray crystal structures of normal transthyretin and two variants, Met 30 and Thr 109 In: Abstracts of the 2nd International Symposium on Familial Amyloidotic Polyneuropathy and other Transthyretin Related Disorders, pp 06, Skellefteå Sweden
37. Hamilton JA, Steinrauf LK, Braden BC, Liepnieks J, Benson MD, Holmgren G, Sandgren O, Steen L (1993) The X-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val 30 - Met 30 variant to 1.7 Å resolution J Biol Chem 268: 2416-2424
38. Harding AE and Thomas PK (1984) Genetically determined neuropathies In: Peripheral Nerve Disorders: a Practical Approach, Asbury AK, Gilliatt RW (eds.), pp 205-242, Butterworth International Medicai Reviews. London
39. Harding AE, Reilly MM (1995) Molecular genetics of inherited neuropathies. In: Peripheral Nerve Disorders 2, Ashbury AK, Thomas PK (eds.), Chapter 6. pp. 118-139, Butterworth-Heinemann LTD: Oxford
40. Holmgren G, Haettner E, Nordenson I, Sandgren O, Steen L, Lundgren E (1988) Homozygosity for the transthyretin-met-30-gene in two Swedish sibs with familial amyloidotic polyneuropathy. Clin Genet 34: 333-338
41. Holmgren G, Drugge U, Haettner E, Lundgren E, Sandgren O, Steen L, Wahlqvist J (1992) Four Swedish patients with homozygosity for the TTR MET 30 gene. Arquivos de Medicina 3: 193-197
42. Holmgren G, Erizon B-G, Groth C-G, Steen L, Suhr O, Andersen O, Wallin BG, Seymour A, Richardson S, Hawkins PN, Pepys MB (1993) Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis Lancet 341: 1113-1116
43. Holt U, Harding AE, Middleton L, Chrysostomou G, Said G, King RHM, Thomas PK (1989) Molecular genetics of amyloid neuropathy in Europe. Lancet 1. 524-526
44. Ide M, Mita S, Ikegawa S, Maeda S, Shimida K, Araki S (1986) Identification of carriers of mutant prealbumin gene associated with familial amyloidotic polyneuropathy type 1 by Southern blot procedures: study of six pedigrees in the Arao district of Japan Hum Genet 73: 281-285
45. Ii S, Minnerath S, Ii K, Dyck PJ, Sommer SS (1991) Twotiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. Neurology 41: 893-898
46. Ii S, Sobell JL, Sommer SS (1992) From molecular variant to disease: Initial steps in evaluating the association of transthyretin M119 with disease. Am J Hum Genet 50: 29-41
47. Ii S, Sommer SS (1993) The high frequency of TTR Met 30 in familial amyloidotic polyneuropathy is not due to a founder effect. Hum Mol Genet 2: 1303-1305
48. Izumoto S, Younger D, Hays AP, Martone RL, Smith RT, Herbert J (1992) Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70. Neurology 42: 2094-2102
49. Jacobson DR, McFarlin DE, Kane I, Buxbaum JN (1992a) Transthyretin Pro 55, a variant associated with earlyonset, aggressive, diffuse amyloidosis including neurological, cardiac and gastrointestinal involvement. In: Abstracts of the 2nd International Symposium on Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders, pp. P13, Skellefteå: Sweden
50. Jacobson DR, Gorevic, PD, Sack GH, Malamet RL (1992b) Homozygous transthyretin HIS58 associated with unusually aggressive familial amyloidotic polyneuropathy In: Abstracts of the 2nd International Symposiun on Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders, pp. 015, Skellefteå: Sweden
51. Jacobson DR, Buxbaum JN (1994) A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient "SKO" with familial amyloidotic polyneuropathy. Hum Mutat 3 254-260
52. Kernohan JW, Woltman HW (1942) Amyloid neuritis. Arch Neurol Pschyiat 47: 132-140
53. Kisilevsky R (1992) Proteoglycans, glycosaminoglycans, amyloid-enhancing factor, and amyloid deposition. J Intern Med 232. 515-516
54. King RHM, Workmann JM, Collins VP, Thomas PK (1990) Characterization of amyloid by immunostaining of peripheral nerves in familial amyloid polyneuropathy. In: FAP and other Transthyretin Related Disorders, Costa PP, Falcao de Freitas A. Saraiva MJM (eds). pp. 401-404, Arquivos de Medicina: Portugal
55. Kiuru S, Seppäläinen MH, Hokkanen L, Salonen O, Palo J (1992) Clinical findings in 30 patients with familial amyloidosis of the Finnish type (FAF) In: Abstracts of the 2nd International Symposium on Familial Amlyoidotic Polyneuropathy and other Transthyretin Related Disorders, pp. P28, Skellefteå: Sweden
56. Kiuru S, Seppalainen AM (1994a) Neuropathy in familial amyloidosis, Finnish type (FAF). electrophysiological studies. Muscle-Nerve 17: 299-304
57. Kiuru S, Matikainen E, Kupari M, Haltia M, Palo J (1994b) Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). J Neurol Sci 126: 40-48
58. Königstein H (1925) über Amyloidose der Haut. Arch Dermatol Syphilis 148 330-383
59. Koeppen AH, Wallace MR, Benson MD, Altland K (1990) Familial amyloidotic polyneuropathy: Alanine-for-Threonine substitution in the transthyretin (prealbumin) molecule. Muscle & Nerve 13: 1065-1075
60. Levy E, Haltia M, Frenandez-Madrid I, Koivunen O, Ghiso J, Prelli F, Frangione B (1990) Mutation in gelsolin gene in Finnish hereditary amyloidosis J Exp Med 172: 1865-1867
61. Linke RP, Altland K, Pahla J, Almeida MR, Saraiva MJ (1993) Transthyretin point mutations in familial amyloid polyneuropathy from Germany using RFLP on PCR-amplified DNA from paraffin sections. In: Amyloid and Amyloidosis, Kisilevesky R, Benson MD, Frangione B, Gauldie J, Muckle TJ, Young ID (eds.) pp. 444-446, Parthenon Publishing: New York, London
62. Lobato L, Teixeira F, Sousa A, Sequeiros J (1988) Genetic study of late-onset in hereditary amyloid neuropathy (HAN) - type I (Portuguese, Andrade) In: Amyloid and Amyloidosis, Isobe T, Araki A, Uchino F, Kito S, Tsubura E (eds.) pp. 441-446, Plenum: New York
63. Matsunami H, Makuuchi M, Kawasaki S, Hahikura Y, Ikegami T, Nakazawa Y, Miyagawa S, Takei Y, Ikeda S, Yanagisawa N (1995) A case of familial amyloidotic polyneuropathy treated with partial liver transplantation using a graft from a living related donor. Transplantation 60: 301-303
64. Maury CP Nurmiaho-Lassila EL, Rossi H (1994) Amyloid fibril formation in gelsolin derived amyloidosis. Definition of the amyloidogenic region and evidence of accelerated amyloid formation of mutant Asn-187 and Tyr-187 gelsolin peptides Lab Invest 70: 558-564
65. Mahloudji M, Teasdall RE, Adamkiewics JJ, Hartmann WH, Lambird PA, Mc Kusick VA (1969) The genetic amyloidoses with particular reference to the hereditary idiopathic amyloidosis, Type II (Indiana or Rukavina type). Medicine 48. 1-37
66. Meretoja J (1969) Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. Ann Clin Res 1: 314-324
67. Munar-Ques M, Costa PP, Saraiva MJ, Viader-Farre C, Munar-Bernat C (1988) Familial type I (Portuguese form) amyloidotic polyneuropathy in Majorca. Study using the TTR (Met 30) genetic marker. Med Clin Bar 91. 441-444
68. Murakami T, Maeda S, Yi S, Ikegawa S, Kawashima E, Onodera S, Shimida K, Araki S (1992) A novel transthyretin mutation associated with familial amyloidotic polyneuropathy. Biochem Biophys Res Commun 182: 520-526
69. Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M (1994) Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant. Neurology 44: 315-318
70. Nakazato M, Kangawa K, Minamino M, Tawara S, Matsuo H, Araki S (1984a) Radioimmunassay for detecting abnormal pre-albumin in the serum for diagnosing familial amyloidotic polyneuropathy (Japanese type) . Biochem Biophys Res Commun 122: 719-725
71. Nakazato M, Kangawa K, Minamino M, Tawara S, Matsuo H, Araki S (1984b) Revised analysis of amino acid replacement in a prealbumin veriant (SKO-111) associated with familial amyloidotic polyneuropathy of Jewish origin. Biochem Biophys Res Commun 123: 921-928
72. Nichols WC, Dwulet FE, Liepnieks J, Benson MD (1988) Variant apolipoprotein A-1 as a major constituent of a human hereditary amyloid. Biochem Biophys Res Commun 156. 762-768
73. Nichols WC, Liepnieks JJ, McKusick VA, Benson MD (1989) Direct sequencing of the gene for Maryland / German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. Genomics 5 535-540
74. Nichols WC, Gregg RE, Bryan Brewer H, Benson MD (1990) A mutation in apolipoprotein A-1 in the lowa type of familial amyloidotic polyneuropathy. Genomics 8: 318-323
75. Novis SAP, André C, Cruz MW (1990) Familial amyloidotic polyneuropathy of the Portuguese type (type I) in Rio de Janeiro, Brazil: Clinical features in 127 patients from 22 families. In: Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders, Costa PP, Falcâo de Freitas A, Saraiva MJ (eds.) pp 263-266, Arquivos de Medicina: Porto
76. Orita M, Iwahana H, Kanazawa H, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms Proc Natl Acad Sci 86. 2766-2770
77. Pepys MB (1992) Amyloid P component and the diagnosis of amyloidosis. J Intern Med 232: 519-521
78. Pitkanen P, Westermark P, Cornwell III GG (1984) Senile systemic amyloidosis. Am J Path 117 391-399
79. Regnault V, Costa PMP, Telxeira A, Rivat C, Stolz JF, Saraiva MJM, Costa PP (1992) Specific removal of transthyretin from plasma of patients with familial amyloidotic polyneuropathy. Optimization of an immunoadsorption procedure. Int J Artif Organs 15: 249-255
80. Reilly MM, King RHM (1993) Familial amyloid polyneuropathy Brain Pathology 3: 165-176
81. Reilly MM, Staunton H, Harding AE (1995a) Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study. J Neurol Neurosurg Psychiatry 59: 45-49
82. Reilly M, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, Thomas PK, Harding AE (1995b) Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain 118: 849-856
83. Reilly M, Adams D, Davis MB, Said G, Harding AE (1995C) Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77). J Neurol 242. 664-668
84. Rokitansky K (1842) Handbuch der pathologischen Anatomie Wien: Braumüller & Seidel. 3. 311
85. Rosen HN, Moses AC, Murrell JR, Liepnieks JJ, Benson MD (1993) Thyroxine interactions with transthyretin. A comparison of 10 different naturally occurring transthyretin variants. J Clin Endoc Metab 77: 370-374
86. Rukavina JG, Block WD, Jackson CE, Falls HF, Carey JA, Curtis AC (1956) Primary systemic amyloidosis: A review with an experimental, genetic and clinical study of 29 cases with particular emphasis on the familial form Medicine 35: 239-334
87. Saeki Y, Ueno S, Yorifuji S, Sugiyama Y, Ide Y, Matsuzawa Y (1991) New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected with nonisotope method of single-strand conformation polymorphism analysis. Biochem Biophys Res Commun 180: 380-385
88. Saraiva MJM, Birken S, Costa PP, Goodman DS (1984) Amyloid fibril protein in familial amyloidotic polyneuropathy. Portuguese type J Clin Invest 74: 104-119
89. Saraiva MJM (1991) Recent advances in the molecular pathology of familial amyloidotic polyneuropathy Neuromuscular Disorders 1: 3-6
90. Schwartz P (1970) Amyloidosis Cause and Manifestation of Senile Deterioration, Thomas CC, Springfield. Illinois
91. 61 - LYS) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis. Biochem Biophys Res Commun 194: 1090-1096
92. Skare JC, Saraiva MJM, Alves IL, Skare IB, Milunsky A, Cohen AS, Skinner M (1989) A new mutation causing familial amyloidotic polyneuropathy Biochem Biophys Res Commun 164: 1240-1246
93. Skare J, Yazici H, Erken E, et al (1990) Homozygosity for the Met 30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy Hum Genet 86: 89-90
94. Skare J, Jones LA, Myles N, Kane K, Milunsky A, Cohen A, Skinner M (1994) Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. Clin Genet 45: 281-284
95. Skinner M, Lewis WD, Jones LA, Kasirky J, Kane K, Ju S-T, Jenkins R, Falk RH, Simms RW, Cohen AS (1994) Liver transplantation as a treatment for familial amyloidotic polyneuropathy Ann Intern Med 120: 133-134
96. Sousa A, Andersson R, Drugge U, Holmgren G, Sandgren O (1993) Familial amyloidotic polyneuropathy in Sweden: Geographical distribution, age of onset, and prevalence Hum Hered 43: 288-294
97. Staunton H, Dervan P, Kale R, Linke RP, Kelly P (1987) Hereditary amyloid polyneuropathy in North West Ireland. Brain 110: 1231-1245
98. Staunton H (1991a) Familial amyloid polyneuropathies. In: Handbook of Clinical Neurology, Vinken PJ, Bruyn GW, Klawans HL (eds.), pp 89-115, Elsevier: Amsterdam.
99. Staunton H, Davis MB, Guiloff RJ, Nakazato M, Miyazato N, Harding AE (1991b) Irish (Donegal) amyloidosis associated with the transthyretin ALA 60 (Appalachian) variant. Brain 114: 2675-2679
100. Stein G, Schneider A, Thoss K, Linke RP, Schaeffer K, Sperschneider H, Abendroth K, Funfstuck R (1992) β2-microglobulin-derived amyloidosis: onset, distribution and clinical features in 13 haemolysed patients. Nephron 60: 274-280
101. Strich SJ, Wade G (1953) Primary amyloidosis. Presenting with peripheral neuritis and intractable heart failure. Lancet 2: 70-71
102. Sunada Y, Shimizu T, Kanazawa I (1992) Familial amyloidotic polyneuropathy type IV: Gene analysis of the first Japanese family. In: Abstracts of the 2nd International Symposium on Familial Amyloidotic Polyneuropathy and other Transthyretin Related Disorders, pp. P27, Skellefteå. Sweden
103. Sunada Y, Shimizu T, Nakase H, Ohta S, Asaoka T, Amano S, Sawa M, Kagawa Y, Kanazawa I, Mannen T (1993) Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family. Ann Neurol 33: 57-62
104. Tashiro F, Yi S, Wakasugi S, Maeda S, Shimida K, Yamamura K (1992) Role of serum amyloid P component for systemic amyloidosis in transgenic mice carrying human mutant transthyretin gene. Gerontology 37 56-62
105. Terry CJ, Damas AM, Oliveira P, Saraiva MJM, Alves IL, Costa PR Matias PM, Sakaki Y and Blake CCF (1993) Structure of Met30 variant of transthyretin and its amyloidogenic implications. EMBO J 12: 735-741
106. Thylen C, Wahlquist J, Haettner E, Sandgren S, Holmgren G, Lundgren E (1993) Modification of transthyretin in amyloid fibrils: analysis of amyloid from homozygous and heterozygous individuals with the Met 30 mutation EMBO J 12: 743-748
107. Uemichi T, Gertz MA, Benson MD (1994) Amyloid polyneuropathy in two German-American families: a new transthyretin variant. J Med Genet 31: 416-417
108. Uemichi T, Gertz MA, Benson MD (1995) A new transthyretin variant (Ser 24) associated with familial amyloidotic polyneuropathy. J Med Genet 32 279-281
109. 114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases. Biochem Biophys Res Commun 169: 143-147
110. 50 to Arg) Biochem Biophys Res Commun 169: 1117-1121
111. Van Allen MW, Frohlich JA, Davis JR (1969) Inherited predisposition to generalized amyloidosis. Clinical and pathological study of a family with neuropathy, nephropathy and peptic ulcer. Neurology 19: 10-25
112. Wallace MR, Dwulet FE, Williams EC, Conneally PM, Benson MD (1988) Identification of a new hereditary amyloidosis Prealbumin variant, Tyr-77, and detection of the gene by DNA analysis J Clin Invest 81: 189-193
113. Westermark P, Sletten K, Johansson B, Cornwell III GG (1990) Fibril in senile systemic amyloidosis derived from normal transthyretin. Proc Natl Acad Sci USA 87: 2843-2845
114. Yasuda T, Sobue G, Doyu M, Nakazato M, Shiomi K, Yanagi T, 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
115. Yi S, Takahashi K, Naito M, Tashiro F, Wakasugi S, Maeda S, Shimida K, Yamamura K, Araki S (1991) Systemic amyloidosis in mice carrying the human mutant transthyretin (MET 30) gene. Pathologic similarity to human familial amyloidotic polyneuropathy, type 1. Am J Pathol 138: 403-412
116. Yoshinaga T, Nakazato M, Ikeda S, Ohnishi A (1992) Homozygosity for the transthyretin-Met-30 gene in three Japanese siblings with type I familial amyloidotic polyneuropathy. Neurology 42: 2045-2047
117. Yoshinaga T, Nakazato M, Ikeda S, Ohnishi A (1994) Three siblings homozygous for the transthyretin-Met-30 gene in familial amyloidotic polyneuropathy - evaluation of their clinical pictures with reference to those of other10 cases reported. Rinsho Shinkeigaku 34 99-105
118. Yoshioka K, Furuya H, Sasaki H, Saraiva MJM, Costa PP, Sasaki Y (1989) Haplotype analysis of familial amyloidotic polyneuropathy. Hum Genet 82: 9-13