Amyloidosis and Neuropathy

Peripheral Neuropathy

Volumn 2, Issue , 2005, Pages 2427-2451

  Kyle, Robert A ^a   Kelly, John J ^a   Dyck, Peter J ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 33750910096     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-7216-9491-7.50111-3     Document Type: Chapter

References (226)

1. Abarbanel J.M., Frisher S., Osimani A. Primary amyloidosis with peripheral neuropathy and signs of motor neuron disease. Neurology 1986, 36:1125.
2. Adams D., Samuel D., Goulon-Goeau C., et al. The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. Brain 2000, 123:1495.
3. Al Suwaidi J., Velianou J.L., Gertz M.A., et al. Systemic amyloidosis presenting with angina pectoris. Ann. Intern. Med. 1999, 131:838.
4. Andersson R. Familial amyloidosis with polyneuropathy: a clinical study based on patients living in northern Sweden. Acta Med. Scand. Suppl. 1976, 590:1.
5. Ando Y., Ikegawa S., Miyazaki A., et al. Role of variant prealbumin in the pathogenesis of familial amyloidotic polyneuropathy: fate of normal and variant prealbumin in the circulation. Arch. Biochem. Biophys. 1989, 274:87.
6. Andrade C. A peculiar form of peripheral neuropathy: familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952, 75:408.
7. Araoz P.A., Batts K.P., MacCarty R.L. Amyloidosis of the alimentary canal: radiologic-pathologic correlation of CT findings. Abdom. Imaging 2000, 25:38.
8. Aterman K. A historical note on the iodine-sulphuric acid reaction of amyloid. Histochemistry 1976, 49:131.
9. Backman C., Olofsson B.O. Echocardiographic features in familial amyloidosis with polyneuropathy. Acta Med. Scand. 1983, 214:273.
10. Battle W.M., Rubin M.R., Cohen S., Snape W.J. Gastrointestinal-motility dysfunction in amyloidosis. N. Engl. J. Med. 1979, 301:24.
11. Benson M.D., Cohen A.S. 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.
12. Benson M.D., Dwulet F.E., Scheinberg M.A., Greipp P. Chemical classification of hereditary amyloidosis in Brazilian families and identification of gene carriers. J. Rheumatol. 1986, 13:927.
13. Benson M.D., Liepnieks J.J., Yazaki M., et al. A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. Genomics 2001, 72:272.
14. Benson M.D., Wallace M.R. Genetic amyloidosis: recent advances. Adv. Nephrol. Necker Hosp. 1989, 18:129.
15. Benson M.D., Wallace M.R., Tejada E., et al. Hereditary amyloidosis. Description of a new American kindred with late onset cardiomyopathy: Appalachian amyloid. Arthritis Rheum. 1987, 30:195.
16. Bornebroek M., Haan J., Roos R.A. Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D): a review of the variety in phenotypic expression. Amyloid 1999, 6:215.
17. Brandwein S.R., Sipe J.D., Skinner M., Cohen A.S. Effect of colchicine on experimental amyloidosis in two CBA/J mouse models: chronic inflammatory stimulation and administration of amyloid-enhancing factor during acute inflammation. Lab. Invest. 1985, 52:319.
18. Breathnach S.M., Black M.M. Systemic amyloidosis and the skin: a review with special emphasis on clinical features and therapy. Clin. Exp. Dermatol. 1979, 4:517.
19. Bruni J., Bilbao J.M., Pritzker P.H. Myopathy associated with amyloid angiopathy. Can. J. Neurol. Sci. 1977, 4:77.
20. Budd G. On Diseases of the Liver 1853, Blanchard and Lea, Philadelphia. 2nd ed.
21. Buja L.M., Khoi N.B., Roberts W.C. Clinically significant cardiac amyloidosis: clinicopathologic findings in 15 patients. Am. J. Cardiol. 1970, 26:394.
22. Bujanda L., Beguiristain A., Alberdi F., et al. Spontaneous rupture of the liver in amyloidosis. Am. J. Gastroenterol. 1997, 92:1385.
23. Burakoff R., Rubinow A., Cohen A.S. Esophageal manometry in familial amyloid polyneuropathy. Am. J. Med. 1985, 79:85.
24. Buxbaum J. Aberrant immunoglobulin synthesis in light chain amyloidosis: free light chain and light chain fragment production by human bone marrow cells in short-term tissue culture. J. Clin. Invest. 1986, 78:798.
25. Buxbaum J.N., Chuba J.V., Hellman G.C., et al. Monoclonal immunoglobulin deposition disease: light chain and light and heavy chain deposition diseases and their relation to light chain amyloidosis: clinical features, immunopathology, and molecular analysis. Ann. Intern. Med. 1990, 112:455.
26. Buxbaum J.N., Tagoe C.E. The genetics of the amyloidoses. Annu. Rev. Med. 2000, 51:543.
27. Carvalho M.J., van den Meiracker A.H., Boomsma F., et al. Improved orthostatic tolerance in familial amyloidotic polyneuropathy with unnatural noradrenaline precursor L-threo-3, 4-dihydroxyphenylserine. J. Auton. Nerv. Syst. 1997, 62:63.
28. Chamarthi B., Dubrey S.W., Cha K., et al. Features and prognosis of exertional syncope in light-chain associated AL cardiac amyloidosis. Am. J. Cardiol. 1997, 80:1242.
29. Chang C.M., Yu Y.L., Wong M., et al. Type I familial amyloid polyneuropathy in a Chinese family. Acta Neurol. Scand. 1989, 79:391.
30. Clesham G.J., Vigushin D.M., Hawkins P.N., et al. Echocardiographic assessment of cardiac involvement in systemic AL amyloidosis in relation to whole body amyloid load measured by serum amyloid P component (SAP) clearance. Am. J. Cardiol. 1997, 80:1104.
31. Cohen A.S., Calkins E. Electron microscopic observations on a fibrous component in amyloid of diverse origins. Nature 1959, 183:1202.
32. Cohen A.S., Rubinow A., Anderson J.J., et al. Survival of patients with primary (AL) amyloidosis: colchicine-treated cases from 1976 to 1983 compared with cases seen in previous years (1961 to 1973). Am. J. Med. 1987, 82:1182.
33. Cohen A.S., Shirahama T. Electron microscopic analysis of isolated amyloid fibrils from patients with primary, secondary and myeloma-associated disease: a study utilizing shadowing and negative staining techniques. Isr. J. Med. Sci. 1973, 9:849.
34. Comenzo R.L., Vosburgh E., Falk R.H., et al. Dose-intensive melphalan with blood stem-cell support for the treatment of AL (amyloid light-chain) amyloidosis: survival and responses in 25 patients. Blood 1998, 91:3662.
35. Comesana L., van den del Castillo M., Martin R., et al. Musculoskeletal amyloid disease: MRI features. Ann. Radiol. (Paris) 1995, 38:150.
36. Connors L.H., Ericsson T., Skare J., et al. A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing. Biochim. Biophys. Acta 1998, 1407:185.
37. Connors L.H., Richardson A.M., Theberge R., Costello C.E. Tabulation of transthyretin (TTR) variants as of 1/1/2000. Amyloid 2000, 7:54.
38. Coria F., Castano E., Prelli F., et al. Isolation and characterization of amyloid P component from Alzheimer's disease and other types of cerebral amyloidosis. Lab. Invest. 1988, 58:454.
39. Costa P.P., Figueira A.S., Bravo F.R. Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy. Proc. Natl. Acad. Sci. U. S. A. 1978, 75:4499.
40. Cueto-Garcia L., Reeder G.S., Kyle R.A., et al. Echocardiographic findings in systemic amyloidosis: spectrum of cardiac involvement and relation to survival. J. Am. Coll. Cardiol. 1985, 6:737.
41. de Carvalho M., Conceicao I., Bentes C., Luis M.L. Long-term quantitative evaluation of liver transplantation in familial amyloid polyneuropathy (Portuguese V30M). Amyloid 2002, 9:126.
42. de Freitas A.F. The heart in Portuguese amyloidosis. Postgrad. Med. J. 1986, 62:601.
43. de Freitas F. Treatment of orthostatic hypotension with L-threo-DOPS in familial amyloidotic polyneuropathy [editorial]. Amyloid 1996, 3:212.
44. DeBruyn R.S., Stern R.O. Case of the progressive hypertrophic polyneuritis of Dejerine and Sottas, with pathological examination. Brain 1929, 52:84.
45. Dispenzieri A., Lacy M.Q., Kyle R.A., et al. Eligibility for hematopoietic stem-cell transplantation for primary systemic amyloidosis is a favorable prognostic factor for survival. J. Clin. Oncol. 2001, 19:3350.
46. Divry P., Florkin M. Sur les propriétés optiques de l'amyloïde. C. R. Soc. Biol. (Paris) 1928, 97:1808.
47. Doyle L. Lardaceous disease: some early reports by British authors (1722-1879). J. R. Soc. Med. 1988, 81:729.
48. Dubrey S.W., Davidoff R., Skinner M., et al. Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplantation 1997, 64:74.
49. Durie B.G., Persky B., Soehnlen B.J., et al. Amyloid production in human myeloma stem-cell culture, with morphologic evidence of amyloid secretion by associated macrophages. N. Engl. J. Med. 1982, 307:1689.
50. Duston M.A., Skinner M., Anderson J., Cohen A.S. Peripheral neuropathy as an early marker of AL amyloidosis. Arch. Intern. Med. 1989, 149:358.
51. Dyck P.J., Karnes J., O'Brien P.C., Swanson C.J. Neuropathy symptom profile in health, motor neuron disease, diabetic neuropathy, and amyloidosis. Neurology 1986, 36:1300.
52. Dyck P.J., Lambert E.H. Dissociated sensation in amyloidosis: compound action potential, quantitative histologic and teased-fiber, and electron microscopic studies of sural nerve biopsies. Arch. Neurol. 1969, 20:490.
53. Elghetany M.T., Saleem A. Methods for staining amyloid in tissues: a review. Stain Technol. 1988, 63:201.
54. Eriksson P., Boman K., Jacobsson B., Olofsson B.O. Cardiac arrhythmias in familial amyloid polyneuropathy during anaesthesia. Acta Anaesthesiol. Scand. 1986, 30:317.
55. Eriksson P., Karp K., Bjerle P., Olofsson B.O. Disturbances of cardiac rhythm and conduction in familial amyloidosis with polyneuropathy. Br. Heart J. 1984, 51:658.
56. Eyanson S., Benson M.D. Erosive arthritis in hereditary amyloidosis. Arthritis Rheum. 1983, 26:1145.
57. Ferlini A., Romeo G., Tassinari C.A., et al. Discrimination of peripheral polyneuropathies caused by TTR variant or diabetes in the same pedigree through protein studies. Adv. Neurol. 1988, 48:201.
58. Feurle G.E., Linke R.P., Kuhn E., Wagner A. Clinical value of immunohistochemistry with AF-antibody in the diagnosis of familial amyloid neuropathy. J. Neurol. 1984, 231:237.
59. Furuya H., Yoshioka K., Sasaki H., et al. Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs. J. Clin. Invest. 1987, 80:1706.
60. Gafni J., Fischel B., Reif R., et al. Amyloidotic polyneuropathy in a Jewish family: evidence for the genetic heterogeneity of the lower limb familial amyloidotic neuropathies. Q. J. Med. 1985, 55:33.
61. Gamba G., Montani N., Anesi E., et al. Clotting alterations in primary systemic amyloidosis. Haematologica 2000, 85:289.
62. Gastineau D.A., Gertz M.A., Daniels T.M., et al. Inhibitor of the thrombin time in systemic amyloidosis: a common coagulation abnormality. Blood 1991, 77:2637.
63. Gertz M.A., Brown M.L., Hauser M.F., Kyle R.A. Utility of technetium Tc 99m pyrophosphate bone scanning in cardiac amyloidosis. Arch. Intern. Med. 1987, 147:1039.
64. Gertz M.A., Brown M.L., Hauser M.F., Kyle R.A. Utility of gallium imaging of the kidneys in diagnosing primary amyloid nephrotic syndrome. J. Nucl. Med. 1990, 31:292.
65. Gertz M.A., Garton J.P., Kyle R.A. Primary amyloidosis (AL) in families. Am. J. Hematol. 1986, 22:193.
66. Gertz M.A., Grogan M., Kyle R.A., Tajik A.J. Endomyocardial biopsy-proven light chain amyloidosis (AL) without echocardiographic features of infiltrative cardiomyopathy. Am. J. Cardiol. 1997, 80:93.
67. Gertz M.A., Kyle R.A. Hepatic amyloidosis (primary [AL], immunoglobulin light chain): the natural history in 80 patients. Am. J. Med. 1988, 85:73.
68. Gertz M.A., Kyle R.A. Acute leGBRemia and cytogenetic abnormalities complicating melphalan treatment of primary systemic amyloidosis. Arch. Intern. Med. 1990, 150:629.
69. Gertz M.A., Kyle R.A. Phase II trial of alphatocopherol (vitamin E) in the treatment of primary systemic amyloidosis. Am. J. Hematol. 1990, 34:55.
70. Gertz M.A., Kyle R.A. Phase II trial of recombinant interferon alfa-2 in the treatment of primary systemic amyloidosis. Am. J. Hematol. 1993, 44:125.
71. Gertz M.A., Kyle R.A. Myopathy in primary systemic amyloidosis. J. Neurol. Neurosurg. Psychiatry 1996, 60:655.
72. Gertz M.A., Kyle R.A. Hepatic amyloidosis: clinical appraisal in 77 patients. Hepatology 1997, 25:118.
73. Gertz M.A., Kyle R.A., Griffing W.L., Hunder G.G. Jaw claudication in primary systemic amyloidosis. Medicine (Baltimore) 1986, 65:173.
74. Gertz M.A., Kyle R.A., Thibodeau S.N. Familial amyloidosis: a study of 52 North American-born patients examined during a 30-year period. Mayo Clin. Proc. 1992, 67:428.
75. Gertz M.A., Lacy M.Q., Dispenzieri A., et al. A multicenter Phase II trial of 4'-iodo-4'-deoxydoxorubicin (IDOX) in primary amyloidosis (AL) [abstract]. Blood 2000, 96(II):288b. Pt. 2.
76. Gertz M.A., Lacy M.Q., Gastineau D.A., et al. Blood stem cell transplantation as therapy for primary systemic amyloidosis (AL). Bone Marrow Transplant. 2000, 26:963.
77. Gertz M.A., Lacy M.Q., Lust J.A., et al. Phase II trial of high-dose dexamethasone for previously treated immunoglobulin light-chain amyloidosis. Am. J. Hematol. 1999, 61:115.
78. Gertz M.A., Lacy M.Q., Lust J.A., et al. Phase II trial of high-dose dexamethasone for untreated patients with primary systemic amyloidosis. Med. Oncol. 1999, 16:104.
79. Gertz M.A., Lacy M.Q., Lust J.A., et al. Prospective randomized trial of melphalan and prednisone versus vincristine, carmustine, melphalan, cyclophosphamide, and prednisone in the treatment of primary systemic amyloidosis. J. Clin. Oncol. 1999, 17:262.
80. Gertz M.A., Li C.Y., Shirahama T., Kyle R.A. Utility of subcutaneous fat aspiration for the diagnosis of systemic amyloidosis (immunoglobulin light chain). Arch. Intern. Med. 1988, 148:929.
81. Gianni L., Bellotti V., Gianni A.M., Merlini G. New drug therapy of amyloidoses: resorption of AL-type deposits with 4'-iodo-4'-deoxydoxorubicin. Blood 1995, 86:855.
82. Gillmore J.D., Booth D.R., Madhoo S., et al. Hereditary renal amyloidosis associated with variant lysozyme in a large English family. Nephrol. Dial. Transplant. 1999, 14:2639.
83. Gillmore J.D., Hawkins P.N., Pepys M.B. Amyloidosis: a review of recent diagnostic and therapeutic developments. Br. J. Haematol. 1997, 99:245.
84. Glenner G.G. Amyloid deposits and amyloidosis: the beta-fibrilloses (second of two parts). N. Engl. J. Med. 1980, 302:1333.
85. Glenner G.G., Terry W., Harada M., et al. Amyloid fibril proteins: proof of homology with immunoglobulin light chains by sequence analyses. Science 1971, 172:1150.
86. Hachulla E., Janin A., Flipo R.M., et al. Labial salivary gland biopsy is a reliable test for the diagnosis of primary and secondary amyloidosis: a prospective clinical and immunohistologic study in 59 patients. Arthritis Rheum. 1993, 36:691.
87. Hachulla E., Maulin L., Deveaux M., et al. Prospective and serial study of primary amyloidosis with serum amyloid P component scintigraphy: from diagnosis to prognosis. Am. J. Med. 1996, 101:77.
88. Hamidi Asl L., Fournier V., Billerey C., et al. Fibrinogen Aa chain mutation (Arg554 Leu) associated with hereditary renal amyloidosis in a French family. Amyloid 1998, 5:279.
89. Harada T., Kito S., Ishizaki F., et al. Clinical features and diagnosis by recombinant DNA techniques of familial amyloid polyneuropathy in Japan. Res. Commun. Chem. Pathol. Pharmacol. 1989, 65:237.
90. Harada T., Kito S., Shimoyama M., et al. Genetic and clinical studies of Japanese patients with familial amyloid polyneuropathy. Eur. Neurol. 1989, 29:48.
91. Harats N., Worth R., Benson M.D. Spinal claudication in systemic amyloidosis. J. Rheumatol. 1989, 16:1003.
92. Hawkins P.N., Myers M.J., Lavender J.P., Pepys M.B. Diagnostic radionuclide imaging of amyloid: biological targeting by circulating human serum amyloid P component. Lancet 1988, 1:1413.
93. Hayman S.R., Lacy M.Q., Kyle R.A., Gertz M.A. Primary systemic amyloidosis: a cause of malabsorption syndrome. Am. J. Med. 2001, 111:535.
94. Helin H., Pasternack A., Falck H., Kuhlback B. Recurrence of renal amyloid and de novo membranous glomerulonephritis after transplantation. Transplantation 1981, 32:6.
95. Holmgren G., Ericzon B.-G., Groth C.-G., et al. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet 1993, 341:1113.
96. Holt I.J., Harding A.E., Middleton L., et al. Molecular genetics of amyloid neuropathy in Europe. Lancet 1989, 1:524.
97. Huang C.Y., Wang W.J., Wong C.K. Skin biopsy gives the potential benefit in the diagnosis of systemic amyloidosis associated with cardiovascular involvement. Arch. Dermatol. 1998, 134:643.
98. Ikeda S., Hanyu N., Hongo M., et al. Hereditary generalized amyloidosis with polyneuropathy: clinicopathological study of 65 Japanese patients. Brain 1987, 110:315.
99. Ikeda S., Yanagisawa N., Hongo M., Ito N. Vagus nerve and celiac ganglion lesions in generalized amyloidosis: a correlative study of familial amyloid polyneuropathy and AL-amyloidosis. J. Neurol. Sci. 1987, 79:129.
100. Inomata Y., Nakamura T., Uemoto S., et al. Domino split-liver transplantation from a living donor: case reports of in situ and ex situ splitting. Liver Transpl. 2001, 7:150.
101. Jager P.L., Hazenberg B.P., Franssen E.J., et al. Kinetic studies with iodine-123-labeled serum amyloid P component in patients with systemic AA and AL amyloidosis and assessment of clinical value. J. Nucl. Med. 1998, 39:699.
102. Jennekens F.G., Wokke J.H. Proximal weakness of the extremities as main feature of amyloid myopathy. J. Neurol. Neurosurg. Psychiatry 1987, 50:1353.
103. Jones B.A., Shapiro H.S., Rosenberg B.F., Bernstein J. Minimal renal amyloidosis with nephrotic syndrome. Arch. Pathol. Lab. Med. 1986, 110:889.
104. Jonsen E., Suhr O., Athlin E., Wikström L. Quality-of-life after liver-transplantation in patients with familial amyloidotic polyneuropathy. Amyloid 1996, 3:124.
105. Julien J., Vital C., Vallat J.M., et al. IgM demyelinative neuropathy with amyloidosis and biclonal gammopathy. Ann. Neurol. 1984, 15:395.
106. Kaiserling E., Krober S. Massive intestinal hemorrhage associated with intestinal amyloidosis: an investigation of underlying pathologic processes. Gen. Diagn. Pathol. 1995, 141:147.
107. Kangas H., Ulmanen I., Paunio T., et al. Functional consequences of amyloidosis mutation for gelsolin polypeptide-analysis of gelsolin-actin interaction and gelsolin processing in gelsolin knock-out fibroblasts. FEBS Lett. 1999, 454:233.
108. Katafuchi R., Taguchi T., Takebayashi S., Harada T. Proteinuria in amyloidosis correlates with epithelial detachment and distortion of amyloid fibrils. Clin. Nephrol. 1984, 22:1.
109. Katz B., Leja S., Melles R.B., Press G.A. Amyloid ophthalmoplegia: ophthalmoparesis secondary to primary systemic amyloidosis. J. Clin. Neuroophthalmol. 1989, 9:39.
110. Katz J.N., Larson M.G., Sabra A., et al. The carpal tunnel syndrome: diagnostic utility of the history and physical examination findings. Ann. Intern. Med. 1990, 112:321.
111. Kawasaki S., Makuuchi M., Matsunami H., et al. Living related liver transplantation in adults. Ann. Surg. 1998, 227:269.
112. Kelly J.J. The electrodiagnostic findings in peripheral neuropathy associated with monoclonal gammopathy. Muscle Nerve 1983, 6:504.
113. Kelly J.J., Kyle R.A., O'Brien P.C., Dyck P.J. The natural history of peripheral neuropathy in primary systemic amyloidosis. Ann. Neurol. 1979, 6:1.
114. Kelly J.W., Colon W., Lai Z., et al. Transthyretin quaternary and tertiary structural changes facilitate misassembly into amyloid. Adv. Protein Chem. 1997, 50:161.
115. Kernohan J.W., Woltman H.W. Amyloid neuritis. Arch. Neurol. Psychiatry 1942, 47:132.
116. Kincaid J.C., Wallace M.R., Benson M.D. Late-onset familial amyloid polyneuropathy in an American family of English origin. Neurology 1989, 39:861.
117. Kitamoto T., Ogomori K., Tateishi J., Prusiner S.B. Formic acid pretreatment enhances immunostaining of cerebral and systemic amyloids. Lab. Invest. 1987, 57:230.
118. Kiuru S. Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. Amyloid 1998, 5:55.
119. Kiuru S., Salonen O., Haltia M. Gelsolin-related spinal and cerebral amyloid angiopathy. Ann. Neurol. 1999, 45:305.
120. Klabunde T., Petrassi H.M., Oza V.B., et al. Rational design of potent human transthyretin amyloid disease inhibitors. Nat. Struct. Biol. 2000, 7:312.
121. Klein A.L., Hatle L.K., Burstow D.J., et al. Doppler characterization of left ventricular diastolic function in cardiac amyloidosis. J. Am. Coll. Cardiol. 1989, 13:1017.
122. Kono J., Hongo M., Okubo S., et al. Left ventricular systolic and diastolic time intervals in familial amyloid polyneuropathy. Jpn. Circ. J. 1989, 53:291.
123. Koppelman R.N., Stollman N.H., Baigorri F., Rogers A.I. Acute small bowel pseudo-obstruction due to AL amyloidosis: a case report and literature review. Am. J. Gastroenterol. 2000, 95:294.
124. Kyle R.A. Amyloidosis: a convoluted story. Br. J. Haematol. 2001, 114:529.
125. Kyle R.A., Eilers S.G., Linscheid R.L., Gaffey T.A. Amyloid localized to tenosynovium at carpal tunnel release: natural history of 124 cases. Am. J. Clin. Pathol. 1989, 91:393.
126. Kyle R.A., Gertz M.A. Systemic amyloidosis. Crit. Rev. Oncol. Hematol. 1990, 10:49.
127. Kyle R.A., Gertz M.A. Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin. Hematol. 1995, 32:45.
128. Kyle R.A., Gertz M.A., Greipp P.R., et al. A trial of three regimens for primary amyloidosis: colchicine alone, melphalan and prednisone, and melphalan, prednisone, and colchicine. N. Engl. J. Med. 1997, 336:1202.
129. Kyle R.A., Gertz M.A., Linke R.P. Amyloid localized to tenosynovium at carpal tunnel release: immunohistochemical identification of amyloid type. Am. J. Clin. Pathol. 1992, 97:250.
130. Kyle R.A., Greipp P.R. Primary systemic amyloidosis: comparison of melphalan and prednisone versus placebo. Blood 1978, 52:818.
131. Kyle R.A., Greipp P.R., Garton J.P., Gertz M.A. Primary systemic amyloidosis: comparison of melphalan/prednisone versus colchicine. Am. J. Med. 1985, 79:708.
132. Kyle R.A., Kottke B.A., Schirger A. Orthostatic hypotension as a clue to primary systemic amyloidosis. Circulation 1966, 34:883.
133. Kyle R.A., Linos A., Beard C.M., et al. Incidence and natural history of primary systemic amyloidosis in Olmsted County, Minnesota, 1950 through 1989. Blood 1992, 79:1817.
134. Laskaratos J., Fronimopoulos J. Familial amyloidosis of the Andrade disease type in a Greek family [in German]. Klin. Monatsbl. Augenheilkd. 1987, 190:439.
135. Legge D.A., Carlson H.C., Wollaeger E.E. Roentgenologic appearance of systemic amyloidosis involving gastrointestinal tract. Am. J. Roentgenol. Radium Ther. Nucl. Med. 1970, 110:406.
136. Lewis W.D. Liver transplantation: an effective treatment for familial ATTR amyloidosis. Amyloid 2002, 9:201.
137. Li K., Hizawa K., Nunomura S., Morizumi H. Systemic amyloid myopathy: light-microscopic and fine-structural study of the skelet al muscles with histochemical and immunohistochemical study of amyloid. Acta Neuropathol. (Berl.) 1984, 64:114.
138. Li K., Kyle R.A., Dyck P.J. Immunohistochemical characterization of amyloid proteins in sural nerves and clinical associations in amyloid neuropathy. Am. J. Pathol. 1992, 141:217.
139. Libbey C.A., Rubinow A., Shirahama T., et al. 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.
140. Linke R.P., Nathrath W.B.J., Eulitz M. Classification of amyloid syndromes from tissue sections using antibodies against various amyloid fibril proteins: report of 142 cases. Amyloidosis 1986, 599. Plenum Press, New York. G.G. Glenner, E.F. Osserman, E.P. Benditt (Eds.).
141. Little K.H., Lee E.L., Frenkel E.P. Cranial nerve deficits due to amyloidosis associated with plasma cell dyscrasia. South. Med. J. 1986, 79:677.
142. Low P.A., Dyck P.J., Okazaki H., et al. The splanchnic autonomic outflow in amyloid neuropathy and Tangier disease. Neurology 1981, 31:461.
143. Magnus-Levy A. Bence-Jones-Eiweiss und amyloid. Z. Klin. Med. 1931, 116:510.
144. Mahloudji M., Teasdall R.D., Adamkiewicz J.J., et al. The genetic amyloidoses with particular reference to hereditary neuropathic amyloidosis, type II (Indiana or RGBRavina type). Medicine (Baltimore) 1969, 48:1.
145. Maruyama K., Ikeda S., Yanagisawa N., Nakazato M. Diagnostic value of abdominal fat tissue aspirate in familial amyloid polyneuropathy. J. Neurol. Sci. 1987, 81:11.
146. Massey E.W., Massey J.M. Facial diplegia due to amyloidosis. South. Med. J. 1986, 79:1458.
147. Meretoja J. Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms: a previously unrecognized heritable syndrome. Ann. Clin. Res. 1969, 1:314.
148. Mita S., Maeda S., Shimada K., Araki S. Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy. J. Biochem. (Tokyo) 1986, 100:1215.
149. Nakazato M., Kangawa K., Kurihara T., et al. Variant transthyretin in cerebrospinal fluid in familial amyloidotic polyneuropathy. J. Neurol. Sci. 1987, 79:111.
150. Nakazato M., Kangawa K., Minamino N., et al. Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin. Biochem. Biophys. Res. Commun. 1984, 123:921.
151. Nakazato M., Tanaka M., Yamamura Y., et al. Abnormal transthyretin in asymptomatic relatives in familial amyloidotic polyneuropathy. Arch. Neurol. 1987, 44:1275.
152. Nichols W.C., Dwulet F.E., Liepnieks J., Benson M.D. Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. Biochem. Biophys. Res. Commun. 1988, 156:762.
153. Nomura S., Kanoh T., Uchino H. Intracellular formation of amyloid fibrils in myeloma: cytochemical, immunochemical and electron microscopic observations [in Japanese]. Nippon Ketsueki Gakkai Zasshi 1982, 45:615.
154. O'Connor C.R., Rubinow A., Brandwein S., Cohen A.S. Familial amyloid polyneuropathy: a new kinship of German ancestry. Neurology 1984, 34:1096.
155. Olafsson I., Grubb A. Hereditary cystatin C amyloid angiopathy. Amyloid 2000, 7:70.
156. Olofsson B.O., Bjerle P., Osterman G. Hemodynamic and angiocardiographic observations in familial amyloidosis with polyneuropathy. Acta Med. Scand. 1982, 212:77.
157. Olofsson B.O., Grankvist K., Boman K., et al. Assessment of thyroid and adrenal function in patients with familial amyloidotic polyneuropathy. J. Intern. Med. 1989, 225:337.
158. Osserman E.F., TakatsGBRi K., Talal N. Multiple myeloma I: the pathogenesis of "amyloidosis." Semin. Hematol. 1964, 1:3.
159. Pascali E., Pezzoli A., Melato M., Antonutto G. Pseudotumoral (para-articular) amyloidosis in non-myelomatous monoclonal gammopathy. Pathol. Res. Pract. 1980, 168:215.
160. Pasternack A., Ahonen J., Kuhlback B. Renal transplantation in 45 patients with amyloidosis. Transplantation 1986, 42:598.
161. Peterson S.A., Klabunde T., Lashuel H.A., et al. Inhibiting transthyretin conformational changes that lead to amyloid fibril formation. Proc. Natl. Acad. Sci. U. S. A. 1998, 95:12956.
162. Pomfret E.A., Lewis W.D., Jenkins R.L., et al. Effect of orthotopic liver transplantation on the progression of familial amyloidotic polyneuropathy. Transplantation 1998, 65:918.
163. Pras M., Prelli F., Franklin E.C., Frangione B. Primary structure of an amyloid prealbumin variant in familial polyneuropathy of Jewish origin. Proc. Natl. Acad. Sci. U. S. A. 1983, 80:539.
164. Preud'homme J.L., Ganeval D., Grundfeld J.P., et al. Immunoglobulin synthesis in primary and myeloma amyloidosis. Clin. Exp. Immunol. 1988, 73:389.
165. Puchtler H., Sweat F. Congo red as a stain for fluorescence microscopy of amyloid. J. Histochem. Cytochem. 1965, 13:693.
166. Purkey H.E., Dorrell M.I., Kelly J.W. Evaluating the binding selectivity of transthyretin amyloid fibril inhibitors in blood plasma. Proc. Natl. Acad. Sci. U. S. A. 2001, 98:5566.
167. Quattrini A., Nemni R., Sferrazza B., et al. Amyloid neuropathy simulating lower motor neuron disease. Neurology 1998, 51:600.
168. Quintas A., Vaz D.C., Cardoso I., et al. Tetramer dissociation and monomer partial unfolding precedes protofibril formation in amyloidogenic transthyretin variants. J. Biol. Chem. 2001, 276:27207.
169. Rajani B, Rajani V., Prayson R.A. Peripheral nerve amyloidosis in sural nerve biopsies: a clinicopathologic analysis of 13 cases. Arch. Pathol. Lab. Med. 2000, 124:114.
170. Rajkumar S.V., Gertz M.A., Kyle R.A. Prognosis of patients with primary systemic amyloidosis who present with dominant neuropathy. Am. J. Med. 1998, 104:232.
171. Reilly M.M., Adams D., Davis M.B., et al. Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (Met 30 and Tyr 77). J. Neurol. 1995, 242:664.
172. Roberts W.C., Waller B.F. Cardiac amyloidosis causing cardiac dysfunction: analysis of 54 necropsy patients. Am. J. Cardiol. 1983, 52:137.
173. Roke M.E., Brown W.F., Boughner D., et al. Myopathy in primary systemic amyloidosis. Can. J. Neurol. Sci. 1988, 15:314.
174. Rubinow A., Burakoff R., Cohen A.S., Harris L.D. Esophageal manometry in systemic amyloidosis: a study of 30 patients. Am. J. Med. 1983, 75:951.
175. RGBRavina J.G., Block W.D., Curtis A.C. Familial primary systemic amyloidosis: experimental, genetic and clinical study. J. Invest. Dermatol. 1956, 27:111.
176. RGBRavina J.G., Block W.D., Jackson C.E., et al. Primary systemic amyloidosis: review and experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form. Medicine 1956, 35:239.
177. Rydh A., Suhr O., Hiet ala S.O., et al. Serum amyloid P component scintigraphy in familial amyloid polyneuropathy: regression of visceral amyloid following liver transplantation. Eur. J. Nucl. Med. 1998, 25:709.
178. Said G., Ropert A., Faux N. Length-dependent degeneration of fibers in Portuguese amyloid polyneuropathy: a clinicopathologic study. Neurology 1984, 34:1025.
179. Santos, M., Castro, L., Rio, E., and Coutinho, P.: Cranial nerve involvement in familial amyloidotic polyneuropathy (Portuguese type). Paper presented at the First International Symposium on Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders, Granja, Portugal, September 25-27, 1989.
180. Saraiva M.J., Costa P.P., Goodman D.S. Biochemical marker in familial amyloidotic polyneuropathy, Portuguese type: family studies on the transthyretin (prealbumin)-methionine-30 variant. J. Clin. Invest. 1985, 76:2171.
181. Saraiva M.J., Costa P.P., Goodman D.S. Genetic expression of a transthyretin mutation in typical and late-onset Portuguese families with familial amyloidotic polyneuropathy. Neurology 1986, 36:1413.
182. Saraiva M.J., Costa P.P., Goodman D.S. Transthyretin (prealbumin) in familial amyloidotic polyneuropathy: genetic and functional aspects. Adv. Neurol. 1988, 48:189.
183. Saraiva M.J., Sherman W., Goodman D.S. Presence of a plasma transthyretin (prealbumin) variant in familial amyloidotic polyneuropathy in a kindred of Greek origin. J. Lab. Clin. Med. 1986, 108:17.
184. Saraiva M.J.M., Costa P.P., Almeida M.R., et al. Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin. Hum. Genet. 1988, 80:341.
185. Schwartz P. Amyloidosis: Cause and Manifestation of Senile Deterioration 1970, Charles C Thomas, Springfield, IL.
186. Shirahama T., Skinner M., Cohen A.S. Immunocytochemical identification of amyloid in formalin-fixed paraffin sections. Histochemistry 1981, 72:161.
187. Skinner, M., Libbey, C. A., Skare, J. C., et al.: Tyrosine for serine 77 is the variant transthyretin (TTR) in a United States family of German/English ancestry with familial amyloid polyneuropathy. Paper presented at the First International Symposium on Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders, Granja, Portugal, September 25-27, 1989.
188. Smith R.R., Hutchins G.M., Moore G.W., Humphrey R.L. Type and distribution of pulmonary parenchymal and vascular amyloid: correlation with cardiac amyloid. Am. J. Med. 1979, 66:96.
189. Smith T.J., Kyle R.A., Lie J.T. Clinical significance of histopathologic patterns of cardiac amyloidosis. Mayo Clin. Proc. 1984, 59:547.
190. Solomon A., Kyle R.A., Frangione B. Light chain variable region subgroups of monoclonal immunoglobulins in amyloidosis-AL. Amyloidosis 1986, 449. Plenum Press, New York. G.G. Glenner, E.F. Osserman, E.P. Benditt (Eds.).
191. Sommer C., Schroder J.M. Amyloid neuropathy: immunocytochemical localization of intra- and extracellular immunoglobulin light chains. Acta Neuropathol. (Berl.) 1989, 79:190.
192. Sparkes R.S., Sasaki H., Mohandas T., et al. Assignment of the prealbumin (PALB) gene (familial amyloidotic polyneuropathy) to human chromosome region 18q11.2-q12.1. Hum. Genet. 1987, 75:151.
193. Spinner R.J., Bachman J.W., Amadio P.C. The many faces of carpal tunnel syndrome. Mayo Clin. Proc. 1989, 64:829.
194. Staunton H., Dervan P., Kale R., et al. Hereditary amyloid polyneuropathy in north west Ireland. Brain 1987, 110:1231.
195. Steen L., Wahlin A., Bjerle P., Holm S. Renal function in familial amyloidosis with polyneuropathy. Acta Med. Scand. 1982, 212:233.
196. Steen L.E., Ek B.O. Familial amyloidosis with polyneuropathy: aspects of the relationship between gastrointestinal symptoms, EMG findings, and malabsorption studies. Scand. J. Gastroenterol. 1984, 19:480.
197. Stone M.J. Amyloidosis: a final common pathway for protein deposition in tissues. Blood 1990, 75:531.
198. Suhr O., Danielsson A., Rydh A., et al. Impact of gastrointestinal dysfunction on survival after liver transplantation for familial amyloidotic polyneuropathy. Dig. Dis. Sci. 1996, 41:1909.
199. Suhr O.B., Herlenius G., Friman S., Ericzon B.G. Liver transplantation for hereditary transthyretin amyloidosis. Liver Transpl. 2000, 6:263.
200. Suhr O.B., Holmgren G., Steen L., et al. Liver transplantation in familial amyloidotic polyneuropathy: follow-up of the first 20 Swedish patients. Transplantation 1995, 60:933.
201. Tawara S., Araki S., Toshimori K., et al. Amyloid fibril protein in type I familial amyloidotic polyneuropathy in Japanese. J. Lab. Clin. Med. 1981, 98:811.
202. Tei C., Dujardin K.S., Hodge D.O., et al. Doppler index combining systolic and diastolic myocardial performance: clinical value in cardiac amyloidosis. J. Am. Coll. Cardiol. 1996, 28:658.
203. Thornton C. Amyloid disease: an autopsy review of the decades 1937-46 and 1961-70. Ulster Med. J. 1983, 52:31.
204. Tokuda T., Kondo T., Hanaoka N., et al. A selective transthyretin-adsorption column for the treatment of patients with familial amyloid polyneuropathy. Amyloid 1998, 5:111.
205. Travels of a Gene. Guide to the exhibition shown during the First International Symposium on Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders, Granja, Portugal, September 25-27, 1989.
206. Traynor A.E., Gertz M.A., Kyle R.A. Cranial neuropathy associated with primary amyloidosis. Ann. Neurol. 1991, 29:451.
207. Uemichi T., Liepnieks J.J., Yamada T., et al. A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis. Blood 1996, 87:4197.
208. Utz J.P., Swensen S.J., Gertz M.A. Pulmonary amyloidosis: the Mayo Clinic experience from 1980 to 1993. Ann. Intern. Med. 1996, 124:407.
209. Van Allen M.W., Frohlich J.A., Davis J.R. Inherited predisposition to generalized amyloidosis: clinical and pathological study of a family with neuropathy, nephropathy, and peptic ulcer. Neurology 1969, 19:10.
210. Verghese J.P., Bradley W.G., Nemni R., McAdam K.P. Amyloid neuropathy in multiple myeloma and other plasma cell dyscrasias: a hypothesis of the pathogenesis of amyloid neuropathies. J. Neurol. Sci. 1983, 59:237.
211. Vital A., Vital C. Amyloid neuropathy: relationship between amyloid fibrils and macrophages. Ultrastruct. Pathol. 1984, 7:21.
212. Voulgarelis M., Goutas N., Skopouli F.N. A 47-year-old woman with persistent watery diarrhea, proteinuria, proximal weakness and monoclonal gammopathy. Clin. Exp. Rheumatol. 1999, 17:351.
213. Wallace M.R., Conneally P.M., Benson M.D. A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II). Am. J. Hum. Genet. 1988, 43:182.
214. Wallace M.R., Dwulet F.E., Conneally P.M., Benson M.D. Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. J. Clin. Invest. 1986, 78:6.
215. Wallace M.R., Dwulet F.E., Williams E.C., et al. Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. J. Clin. Invest. 1988, 81:189.
216. Wardley A.M., Jayson G.C., Goldsmith D.J., et al. The treatment of nephrotic syndrome caused by primary (light chain) amyloid with vincristine, doxorubicin and dexamethasone. Br. J. Cancer 1998, 78:774.
217. Watanabe T., Saniter T. Morphological and clinical features of renal amyloidosis. Virchows Arch. [A] 1975, 366:125.
218. Weber H. Mollities ossium, doubtful whether carcinomatous or syphilitic. Trans. Pathol. Soc. Lond. 1867, 18:206.
219. Wikström L., Bjerle P., Boman K., et al. L-threo-DOPS treatment of orthostatic hypotension in Swedish patients with familial amyloidotic polyneuropathy (TTR-Met 30). Amyloid 1996, 3:162.
220. Wilks S. Cases of lardaceous disease and some allied affections: with remarks. Guys Hosp. Rep. 1856, 2:103. Ser. 3.
221. Wright J.R., Calkins E., Humphrey R.L. Potassium permanganate reaction in amyloidosis: a histologic method to assist in differentiating forms of this disease. Lab. Invest. 1977, 36:274.
222. Yamaguchi D.M., Lipscomb P.R., Soule E.H. Carpal tunnel syndrome. Minn. Med. 1965, 48:22.
223. Yood R.A., Skinner M., Rubinow A., et al. Bleeding manifestations in 100 patients with amyloidosis. JAMA 1983, 249:1322.
224. Yoshioka K., Furuya H., Sasaki H., et al. Haplotype analysis of familial amyloidotic polyneuropathy: an evidence for multiple origins of the Val Met mutation. Amyloid and Amyloidosis 1988, 371. Plenum Press, New York. T. Isobe, S. Araki, F. Uchino (Eds.).
225. Yoshioka K., Furuya H., Sasaki H., et al. Haplotype analysis of familial amyloidotic polyneuropathy: evidence for multiple origins of the Val Met mutation most common to the disease. Hum. Genet. 1989, 82:9.
226. ZatloGBRal P., Bezdicek P., Schimonova M., et al. Waldenström's macroglobulinemia with pulmonary amyloidosis. Respiration 1998, 65:414.