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Amyloid
The Journal of Protein Folding Disorders
Volume 21, 2014 - Issue 4
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Research Article

Clinical characteristics and SAP scintigraphic findings in 10 patients with AGel amyloidosis

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Pages 276-281 | Received 16 Jun 2014, Accepted 01 Oct 2014, Published online: 24 Oct 2014

References

  • Saraiva MJM, Birken S, Costa PP, Goodman DS. Amyloid fibril protein in familial amyloid polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin). J Clin Invest 1984;74:104–19
  • Benson MD, Uemichi T. Transthyretin amyloidosis. Amyloid: Int J Exp Clin Invest 1996;3:44–56
  • 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;156:762–8
  • Rowczenio D, Dogan A, Theis JD, Vrana JA, Lachmann HJ, Wechalekar AD, Gilbertson JA, et al. Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I. Am J Pathol 2011;179:1978–87
  • Benson MD, Liepnieks JJ, Yazaki M, Yamashita T, Hamidi Asl K, Guenther B, Kluve-Beckerman B. A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. Genomics 2001;72:272–7
  • Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, et al. Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature 1993;362:553–7
  • 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;14:2639–44
  • Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R. Hereditary renal amyloidosis associated with a mutant fibrinogen α-chain. Nat Genet 1993;3:252–5
  • Ghiso J, Jensson O, Frangione B. Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of γ-trace basic protein (cystatin C). Proc Natl Acad Sci USA 1986;83:2974–8
  • Ghiso J, Haltia M, Prelli F, Novello J, Frangione B. Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. Biochem J 1990;272:827–30
  • Valleix S, Gillmore JD, Bridoux F, Mangione PP, Dogan A, Nedelec B, Boimard M, et al. Hereditary systemic amyloidosis due to Asp76Asn variant beta2-microglobulin. N Engl J Med 2012;366:2276–83
  • Maury CPJ, Alli K, Baumann M. Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. FEBS Lett 1990;260:85–7
  • Levy E, Haltia M, Fernandez-Madrid I, Koivunen O, Ghiso J, Prelli F, Frangione B. Mutation in gelsolin gene in Finnish hereditary amyloidosis. J Exp Med 1990;172:1865–7
  • Sunada Y, Shimizu T, Nakase H, Ohta S, Asaoka T, Amano S, Sawa M, et al. Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family. Ann Neurol 1993;33:57–62
  • Akiya S, Nishio Y, Ibi K, Uozumi H, Takahashi H, Hamada T, Onishi A, et al. Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV. Ophthalmology 1996;103:1106–10
  • de la Chapelle A, Kere J, Sack GH Jr, Tolvanen R, Maury CPJ. Familial amyloidosis, Finnish type: G654 – a mutation of the gelsolin gene in Finnish families and an unrelated American family. Genomics 1992;13:898–901
  • Purcell JJ Jr, Rodrigues M, Chishti MI, Riner RN, Dooley JM. Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome). Ophthalmology 1983;90:1512–17
  • Stewart HS, Parveen R, Ridgway AE, Bonshek R, Black GC, et al. Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. Br J Ophthalmol 2000;84:390–4
  • Huerva V, Velasco A, Sanchez MC, Mateo AJ, Matias-Guiu X. Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family. Eur J Ophthalmol 2007;17:424–9
  • Chastan N, Baert-Desurmont S, Saugier-Veber P, Derumeaux G, Cabot A, Frebourg T, Hannequin D. Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene. Muscle Nerve 2006;33:113–19
  • Luttmann RJ, Teismann I, Husstedt IW, Ringelstein EB, Kuhlenbaumer G. Hereditary amyloidosis of the Finnish type in a German family: clinical and electrophysiological presentation. Muscle Nerve 2010;41:679–84
  • Maury CP, Liljestrom M, Boysen G, Tornroth T, de la Chapelle A, Nurmiaho-Lassila EL. Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type). J Clin Pathol 2000;53:95–9
  • Conceicao I, Sales-Luis ML, De Carvalho M, Evangelista T, Fernandes R, Paunio T, Kangas H, et al. Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies. Muscle Nerve 2003;28:715–21
  • Solari HP, Ventura MP, Antecka E, Belfort R Jr, Burnier MN Jr. Danish type gelsolin-related amyloidosis in a Brazilian family: case reports. Arq Bras Oftalmol 2011;74:286–8
  • Ardalan MR, Shoja MM, Kiuru-Enari S. Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report from the Middle East. Nephrol Dial Transplant 2007;22:272–5
  • Maury CPJ. Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin. J Clin Invest 1991;87:1195–9
  • de la Chapelle A, Tolvanen R, Boysen G, Santavy J, Bleeker-Wagemakers L, Maury CPJ, Kere J. Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nat Genet 1992;2:157–60
  • Sethi S, Theis JD, Quint P, Maierhofer W, Kurtin PJ, Dogan A, Highsmith EW, Jr. Renal amyloidosis associated with a novel sequence variant of gelsolin. Am J Kidney Dis 2013;61:161–6
  • Efebera YA, Sturm A, Baack EC, Hofmeister CC, Satoskar A, Nadasdy T, Nadasdy G, et al. Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred. Amyloid 2014;21:110–12
  • Kiuru S. Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. Amyloid: Int J Exp Clin Invest 1998;5:55–66
  • Talmud P, Tybjaerg-Hansen A, Bhatnagar D, Mbewu A, Miller JP, Durrington P, Humphries S. Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia. Atherosclerosis 1991;89:137–41
  • Booth DR, Sunde M, Bellotti V, Robinson CV, Hutchinson WL, Fraser PE, Hawkins PN, et al. Instability, unfolding and aggregation of human lysozyme variants underlying amyloid fibrillogenesis. Nature 1997;385:787–93
  • Booth DR, Tan SY, Hawkins PN, Pepys MB, Frustaci A. A novel variant of transthyretin, 59Thr–Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. Circulation 1995;91:962–7
  • Tennent GA. Isolation and characterization of amyloid fibrils from tissue. In: Wetzel R, ed. Methods in enzymology: amyloid, prions and other protein aggregates, vol. 309. San Diego, CA: Academic Press Ltd; 1999:26–47
  • Rodriguez FJ, Gamez JD, Vrana JA, Theis JD, Giannini C, Scheithauer BW, Parisi JE, et al. Immunoglobulin derived depositions in the nervous system: novel mass spectrometry application for protein characterization in formalin-fixed tissues. Lab Invest 2008;88:1024–37
  • Perkins DN, Pappin DJ, Creasy DM, Cottrell JS. Probability-based protein identification by searching sequence databases using mass spectrometry data. Electrophoresis 1999;20:3551–67
  • Hawkins PN. Evaluation of systemic amyloidosis by scintigraphy with 123I-labeled serum amyloid P component. N Engl J Med 1990;323:508–13
  • Kwiatkowski DJ, Stossel TP, Orkin SH, Mole JE, Colten HR, Yin HL. Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain. Nature 1986;323:455–8
  • Yin HL, Kwiatkowski DJ, Mole JE, Cole FS. Structure and biosynthesis of cytoplasmic and secreted variants of gelsolin. J Biol Chem 1984;259:5271–6
  • Kazmirski SL, Howard MJ, Isaacson RL, Fersht AR. Elucidating the mechanism of familial amyloidosis – Finnish type: NMR studies of human gelsolin domain 2. Proc Natl Acad Sci USA 2000;97:10706–11
  • Yamanaka S, Miyazaki Y, Kasai K, Ikeda S, Kiuru-Enari S, Hosoya T. Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases. Clin Kidney J 2013;6:189–93
  • Maury CP, 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;13:902–3

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