The hereditary amyloidoses

Amyloid and Related Disorders: Surgical Pathology and Clinical Correlations

Volumn , Issue , 2012, Pages 53-67

  Benson, Merrill D ^a  

^a INDIANA UNIVERSITY   (United States)

Author keywords

Apolipoprotein AI; Apolipoprotein AII; Cystatin C; Familial amyloidosis; Fibrinogen A a chain; Gelsolin; Lysozyme; Transthyretin

Indexed keywords

EID: 84983447979     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-60761-389-3_4     Document Type: Chapter

References (37)

1. Sipe JD, Benson MD, Buxbaum JN, et al. Amyloid fibril protein nomenclature: 2010 recommendations from the nomenclature committee of the International Society of Amyloidosis. Amyloid. 2010;17(3-4):101-4.
2. Benson MD. Other systemic forms of amyloidosis. In: Gertz MA, Rajkumar SV, editors. Amyloidosis: diagnosis and treatment, Chapter 15. Humana Press- Springer Science + Business Media, LLC; New York, Dordrecht, Heidelberg, London 2010. p. 205-25.
3. Zeldenrust SR, Benson MD. Familial and senile amyloidosis caused by transthyretin. In: Ramirez-Alvarado M, Kelly J, Dobson C, editors. Protein misfolding diseases: current and emerging principles and therapies, Part IV, Chapter 36. John Wiley & Sons, Inc.; Hoboken, New Jersey 2010. p. 795-815.
4. Robbins J. Thyroxine-binding proteins. Prog Clin Biol Res. 1976;5:331-55.
5. Kanda Y, Goodman DS, Canfield RE, Morgan FJ. The amino acid sequence of human plasma prealbumin. J Biol Chem. 1974;249(21):6796-805.
6. Blake CCF, Geisow MJ, Oatley SJ. Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 Å (angstrom). J Mol Biol. 1978;121(3):339-56.
7. Andrade C. A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain. 1952;75(3):408-27.
8. Andrade C, Araki S, Block WD, et al. Hereditary amyloidosis. Arthritis Rheum. 1970;13(6):902-15.
9. 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(1):39-41.
10. Mahloudji M, Teasdall RD, Adamkiewicz JJ, Hartmann WH, Lambird PA, McKusick VA. The genetic amyloidoses. With particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type). Medicine. 1969;48(1):1-37.
11. Benson MD, Wallace MR, Tejada E, Baumann H, Page B. Hereditary amyloidosis. Description of a new American kindred with late onset cardiomyopathy. Arthritis Rheum. 1987;30(2):195-200.
12. Wallace MR, Dwulet FE, Williams EC, Conneally PM, Benson MD. Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. J Clin Invest. 1988;81(1):189-93.
13. Falls HF, Jackson JH, Carey JG, Rukavina JG, Block WD. Ocular manifestations of hereditary primary systemic amyloidosis. Arch Ophthalmol. 1955;54(5): 660-4.
14. Gorevic PD, Prelli FC, Wright J, Pras M, Frangione B. Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy. J Clin Invest. 1989;83(3):836-43.
15. Ng B, Connors LH, Davidoff R, Skinner M, Falk RH. Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch Intern Med. 2005;165(12): 1425-9.
16. Benson MD, Kincaid JC. Invited Review: the molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007;36(4):411-23.
17. Benson MD, Breall J, Cummings OW, Liepnieks JJ. Biochemical characterization of amyloid by endomyocardial biopsy. Amyloid. 2009;16(1):9-14.
18. Vrana JA, Gamez JD, Madden BJ, Theis JD, Bergen 3rd HR, Dogan A. Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens. Blood. 2009;114(24):4957-9.
19. 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, Chapter 209, Part 22 Connective Tissue, vol. 4. 8th ed. New York: McGraw Hill Book Co; 2001. p. 5345-78.
20. Van Allen MW, Frohlich JA, Davis JR. Inherited predisposition to generalized amyloidosis. Neurology. 1969;19(1):10-25.
21. 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(2):762-8.
22. Nichols WC, Gregg RE, Brewer HB, Benson MD. A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. Genomics. 1990;8(2):318-23.
23. Hamidi Asl K, Liepnieks JJ, Nakamura M, Parker F, Benson MD. A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. Biochem Biophys Res Commun. 1999; 257(2):584-8.
24. Obici L, Palladini G, Giorgetti S, et al. Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. Gastroenterology. 2004;126(5):1416-22.
25. Hamidi Asl L, Liepnieks JJ, Hamidi Asl K, et al. Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein AI. Am J Pathol. 1999;154(1): 221-7.
26. Uemichi T, Liepnieks JJ, Benson MD. Hereditary renal amyloidosis with a novel variant fibrinogen. J Clin Invest. 1994;93(2):731-6.
27. Uemichi T, Liepnieks JJ, Yamada T, Gertz MA, Bang N, Benson MD. A frame shift mutation in the fibrinogen A a -chain gene in a kindred with renal amyloidosis. Blood. 1996;87(10):4197-203.
28. Meretoja J. Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. Ann Clin Res. 1969;1(4):314-24.
29. Maury CPJ, Kere J, Tolvanen R, de la Chapelle A. Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease. Genomics. 1992;13(3):902-3.
30. de la Chapelle A, Tolvanen R, Boysen G, et al. Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nat Genet. 1992;2(2):157-60.
31. Pepys MB, Hawkins PN, Booth DR, et al. Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature. 1993;362(6420):553-7.
32. Yazaki M, Farrell SA, Benson MD. A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis. Kidney Int. 2003;63(5):1652-7.
33. Benson MD, Liepnieks JJ, Yazaki M, et al. A new human hereditary amyloidosis: the result of a stopcodon mutation in the apolipoprotein AII gene. Genomics. 2001;72(3):272-7.
34. Magy N, Liepnieks JJ, Yazaki M, Kluve-Beckerman B, Benson MD. Renal transplantation for apolipoprotein AII amyloidosis. Amyloid. 2003;10(4):224-8.
35. Gudmundsson G, Hallgrimsson J, Jonasson TA, Bjarnason O. Hereditary cerebral hemorrhage with amyloidosis. Brain. 1972;95(2):387-404.
36. 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(2):548-54.
37. Benson MD, James S, Scott K, Liepnieks JJ, Kluve- Beckerman B. Leukocyte chemotactic factor 2: a novel renal protein. Kidney Int. 2008;74(2):218-22.