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Amyloid
The Journal of Protein Folding Disorders
Volume 12, 2005 - Issue 2
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Original Article

Ostertag revisited: The inherited systemic amyloidoses without neuropathy

Pages 75-87 | Received 08 Sep 2004, Accepted 22 Dec 2004, Published online: 06 Jul 2009

References

  • Ostertag B. Familiere amyloid-erkrankung. Z Menschl Vererbungs Konstit Lehre 1950;30:105–115.
  • Andrade C. A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952;75:408–427.
  • Benson MD. Amyloidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, editors. The metabolic and molecular bases of inherited disease. 8th ed. Volume IV, Chapter 209, Part 22. Connective tissue. New York, NY: McGraw Hill; 2000. pp 5345–5378.
  • Nichols WC, Dwulet FE, Liepnieks J, Benson MD. Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. Biochem Biophys Res Commun 1988;156:762–768.
  • Glenner GG, Terry W, Harada M, Isersky C, Page D. Amyloid fibril proteins: Proof of homology with immunoglobulin light chains by sequence analysis. Science 1971;172:1150–1151.
  • Levin M, Franklin EC, Frangione B, Pras M. The amino acid sequence of a major non-immunoglobulin component of some amyloid fibrils. J Clin Invest 1972;51:2773–2776.
  • Benson MD. Partial amino acid sequence homology between an heredofamilial amyloid protein and human plasma prealbumin. J Clin Invest 1981;67:1035–1041.
  • Saraiva MJM, Birken S, Costa PP, Goodman DS. Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. J Clin Invest 1984;74:104–119.
  • Maury CPJ, Alli K, Baumann M. Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsolin. FEBS Lett 1990;260:85–87.
  • Haltia M, Prelli F, Ghiso J, Kiuru S, Somer H, Palo J, et al. Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. Biochem Biophys Res Commun 1990;167:927–932.
  • Ghiso J, Pons-Estel B, Frangione B. Hereditary cerebral amyloid angiopathy: The amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases. Biochem Biophys Res Commun 1986;136:548–554.
  • Glenner GG, Wong CD. Alzheimer’s disease: Initial report of the purification and characterization of a novel cerebrovascular amyloid protein. Biochem Biophys Res Commun 1984;120:885–890.
  • Davis RL, Shrimpton AE, Holohan PD, Bradshaw C, Feiglin D, Collins GH, et al. Familial dementia caused by polymerization of mutant neuroserpin. Nature 1999;401:376–379.
  • Vidal R, Ghetti B, Takao M, Brefel-Courbon C, Uro-Costa E, Glazier BS, et al. Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. J Neuropathol Exp Neurol 2004;4:363–380.
  • Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R. Hereditary renal amyloidosis associated with a mutant fibrinogen a-chain. Nature Genet 1993;3:252–255.
  • Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, et al. Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature 1993;362:553–557.
  • Benson MD, Liepnieks JJ, Yazaki M, Yamashita T, Hamidi Asl K, Guenther B, et al. A new human hereditary amyloidosis: The result of a stop-codon mutation in the apolipoprotein AII gene. Genomics 2001;72:272–277.
  • Van Allen MW, Frohlich JA, Davis JR. Inherited predisposition to generalized amyloidosis. Neurology 1969;19:10–25.
  • Soutar AK, Hawkins PN, Vigushin DM, Tennent GA, Booth SE, Hutton T, et al. Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. Proc Natl Acad Sci USA 1992;89:7389–7393.
  • Jones LA, Harding JA, Cohen AS, Skinner M. New USA family has apolipoprotein AI (Arg26) variant. In: Natvig JB, Forre O, Husby G, Husebekk A, Skogen B, Sletten K, Westermark P, editors. Amyloid and amyloidosis 1990, VIth International Symposium on Amyloidosis, August 5-8, 1990. Oslo, Norway: Kluwer Academic; 1990. pp 385–388.
  • Vigushin DM, Gough J, Allan D, Alguacil A, Penner B, Pettigrew NM, et al. Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26. Q J Med 1994;87:149–154.
  • Nichols WC, Gregg RE, Brewer Jr HB, Benson MD. A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. Genomics 1990;8:318–323.
  • Rader DJ, Gregg RE, Meng MS, Schaefer Jr, Kindt MR, Zech LA. In vivo metabolism of a mutant apolipoprotein, apoA-IIowa, associated with hypoalphalipoproteinemia and hereditary systemic amyloidosis. J Lipid Res 1992;33:755–763.
  • Booth DR, Tan SY, Booth SE, Hsuan JJ, Totty NF, Nguyen O, et al. A new apo-lipoprotein A I variant, Trp 50 Arg, causes hereditary amyloidosis. Q J Med 1995;88:695–702.
  • Murphy CL, Wang S, Weaver K, Williams TK, Gertz MA, Weiss DT, et al. Apolipoprotein A-I amyloidosis associated with a novel mutant. Xth International Symposium on Amyloid and Amyloidosis, Tours, Loire Valley, France. Final program and book of abstracts, P122, p 71, April, 2004.
  • Hawkins PN, Bybee A, Goodman HJB, Lachmann HJ, Rowczenio D, Gilbertson JA, et al. Phenotype, genotype and outcome in hereditary apoAI amyloidosis. Xth International Symposium on Amyloid and Amyloidosis, Tours, Loire Valley, France. Final program and book of abstracts, O35, p 36, April, 2004.
  • Booth DR, Tan SY, Booth SE, Tennent GA, Hutchinson WL, Hsuan JJ, et al. Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene. J Clin Invest 1996;97:2714–2721.
  • Persey MR, Booth DR, Booth SE, Van Zyl-Smit R, Adams BK, Fattaar AB, et al. Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I. Kidney Int 1998;53:276–281.
  • Obici L, Palladini G, Giorgetti S, Bellotti V, Gregorini G, Arbustini E, et al. Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. Gastroenterology 2004;126:1416–1422.
  • Coriu D, Dispenzieri A, Stevens FJ, Murphy CL, Shuching W, Weiss DT, et al. Hepatic amyloidosis resulting from deposition of the apolipoprotein A-I variant Leu75Pro. Amyloid J Protein Folding Disord 2003;10:215–233.
  • Moulin G, Cognat T, Delaye J, Ferrier E, Wagschal D. Amylose disseëmineëe primitive familiale (nouvelle forme clinique?). Ann Dermatol Venereal 1988;115:565–570.
  • Hamidi Asl L, Liepnieks JJ, Hamidi Asl K, Uemichi T, Moulin G, Desjoyaux E, et al. Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein AI. Am J Pathol 1999;154:221–227.
  • Hamidi Asl K, Liepnieks JJ, Nakamura M, Parker F, Benson MD. A novel apolipoprotein A-I variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. Biochem Biophys Res Commun 1999;257:584–588.
  • Obici L, Bellotti V, Mangione P, Stoppini M, Arbustini E, Verga L, et al. The new apolipoprotein A-I variant Leu174 ? Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide. Am J Pathol 1999;155:695–702.
  • Mendes de Sousa M, Vital C, Ostler D, Fernandes R, Pouget-Abadie J, Carles D, et al. Apolipoprotein AI and transthyretin as components of amyloid fibrils in a kindred with Apo AI Leu178His amyloidosis. Am J Pathol 2000;156:1911–1917.
  • Gillmore JD, Stangou AJ, Tennent GA, Booth DR, O’Grady J, Rela M, et al. Clinical and biochemical outcome of hepatorenal transplantation for hereditary systemic amyloidosis associated with apolipoprotein AI Gly26Arg. Transplantation 2000;71:986–992.
  • Doolittle RF, Watt KWK, Cottrell BA, Strong DD, Riley M. The amino acid sequence of the a-chain of human fibrinogen. Nature 1979;280:464–468.
  • Uemichi T, Liepnieks JJ, Gertz MA, Benson MD. Fibrinogen Aa chain Leu554: An African-American kindred with late onset renal amyloidosis. Amyloid Int J Exp Clin Invest 1998;5:88–192.
  • Hamidi Asl L, Fournier V, Billerey C, Justrabo E, Chevet D, Droz D, et al. Fibrinogen Aa chain mutation (Arg554Leu) associated with hereditary renal amyloidosis in a French family. Amyloid Int J Exp Clin Invest 1998;5:279–284.
  • Uemichi T, Liepnieks JJ, Benson MD. Hereditary renal amyloidosis with a novel variant fibrinogen. J Clin Invest 1994;93:731–736.
  • Alexander F, Atkins EL. Familial renal amyloidosis, case reports, literature review and classification. Am J Med 1975;59:121–128.
  • Mornaghi R, Rubinstein P, Franklin EC. Familial renal amyloidosis: Case reports and genetic studies. Am J Med 1982;73:609–614.
  • Uemichi T, Liepnieks JJ, Alexander F, Benson MD. The molecular basis of renal amyloidosis in Irish-American and Polish-Canadian kindreds. Q J Med 1996;89:745–750.
  • Uemichi T, Liepnieks JJ, Yamada T, Gertz MA, Bang N, Benson MD. A frame shift mutation in the fibrinogen Aa chain gene in a kindred with renal amyloidosis. Blood 1996;87:4197–4203.
  • Hamidi Asl L, Liepnieks JJ, Uemichi T, Rebibou J-M, Justrabo E, Droz D, et al. Renal amyloidosis with a frame shift mutation in fibrinogen Aa-chain producing a novel amyloid protein. Blood 1997;90:4799–4805.
  • Bybee A, Hollenbeck M, Debusman E, Gopaul D, Gilbertson J, Lachmann H, et al. Hereditary renal amyloidosis in a German family associated with fibrinogen Aa chain Glu540Val. Xth International Symposium on Amyloid and Amyloidosis, Tours, Loire Valley, France. Final program and book of abstracts, P125, p 71, April, 2004.
  • Bybee A, Kang HG, Ha IS, Park MS, Cheong HI, Choi Y, et al. A novel complex indel mutation in the fibrinogen Aa chain gene in an Asian child with systemic amyloidosis. Xth International Symposium on Amyloid and Amyloidosis, Tours, Loire Valley, France. Final program and book of abstracts, O34, p 36, April, 2004.
  • Gillmore JD, Booth DR, Rela M, Heaton ND, Rahman V, Stangou AJ, et al. Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen a-chain variant in an English family. Q J Med 2000;93:269–275.
  • Zeldenrust S, Gertz M, Uemichi T, Björnsson J, Wiesner R, Schwab T, et al. Orthotopic liver transplantation for hereditary fibrinogen amyloidosis. Transplantation 2003;75:560–561.
  • Gillmore JD, Booth DR, Madhoo S, Pepys MB, Hawkins PN. Hereditary renal amyloidosis associated with variant lysozyme in a large English family. Nephrol Dial Transplant 1999;11:2639–2644.
  • Booth DR, Sunde M, Bellotti V, Robinson CV, Hutchinson WL, Fraser PE, et al. Instability, unfolding and aggregation of human lysozyme variants underlying amyloid fibrillogenesis. Nature 1997;385:787–793.
  • Zalin AM, Jones S, Fitch NJS, Ramsden DB. Familial nephropathic non-neuropathic amyloidosis: Clinical features, immunohistochemistry and chemistry. Q J Med 1991; 295:945–956.
  • Lanham JG, Meltzer ML, DeBeer FC, Hughes GRV, Pepys MB. Familial amyloidosis of Ostertag. Q J Med 1982;201:25–32.
  • Valleix S, Drunat S, Philit J-B, Adoue D, Piette J-C, Droz D, et al. Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family. Kidney Int 2002;61:907–912.
  • Yazaki M, Farrell SA, Benson MD. A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis. Kidney Int 2003;63:1652–1657.
  • Röcken C, Becker K, Stix B, Rath T, Kähne T, Fändrich M, et al. Xth International Symposium on Amyloid and Amyloidosis, Tours, Loire Valley, France. Final program and book of abstracts, P126, p 72, April, 2004.
  • Weiss SW, Page DL. Amyloid nephropathy of Ostertag with special reference to renal glomerular giant cells. Am J Pathol 1973;72:447–460.
  • Lackner KJ, Law SW, Brewer Jr HB. Human apolipoprotein A-II: complete nucleic acid sequence of preproapoA-II. FEBS Lett 1984;175:159–164.
  • Yazaki M, Liepnieks JJ, Yamashita T, Guenther B, Skinner M, Benson MD. Renal amyloidosis caused by a novel stopcodon mutation in the apolipoprotein A-II gene. Kidney Int 2001;60:1658–1665.
  • Yazaki M, Liepnieks JJ, Barats MS, Cohen AH, Benson MD. Hereditary systemic amyloidosis associated with a new apolipoprotein AII stop codon mutation Stop78Arg. Kidney Int 2003;64:11–16.
  • Connors LH, Prokaeva T, Akar H, Metayer M, Smith P, Lim A, et al. Familial amyloidosis: Recent novel and rare mutations in a clinic population. Xth International Symposium on Amyloid and Amyloidosis, Tours, Loire Valley, France. Final program and book of abstracts, P120, p 70, April, 2004.
  • Rowczenio D, Gilbertson JA, Bybee A, Hernaëndez D, Hawkins PN. Hereditary amyloidosis in a Spanish family associated with a novel non-stop mutation in the gene for apolipoprotein AII. Xth International Symposium on Amyloid and Amyloidosis, Tours, Loire Valley, France. Final program and book of abstracts, P124, p 71, April, 2004.
  • Magy N, Liepnieks JJ, Yazaki M, Kluve-Beckerman B, Benson MD. Renal transplantation for apolipoprotein AII amyloidosis. Amyloid J Protein Folding Disord 2003;10:224–228.
  • Lachmann HJ, Booth DR, Booth SE, Bybee A, Gilbertson JA, Gillmore JD, et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med 2002;346:1786–1791.

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