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Volumn 21, Issue 4, 2014, Pages 276-281

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

Author keywords

123I SAP scintigraphy; Corneal lattice dystrophy; Cranial neuropathy; Hereditary gelsolin (AGel) amyloidosis; Renal amyloid

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN A2; APOLIPOPROTEIN A4; APOLIPOPROTEIN E; BETA 2 MICROGLOBULIN; FIBRINOGEN; GELSOLIN; IODINE 123; LYSOZYME; PREALBUMIN; SERUM AMYLOID P;

EID: 84908510458     PISSN: 13506129     EISSN: 17442818     Source Type: Journal    
DOI: 10.3109/13506129.2014.973105     Document Type: Article
Times cited : (7)

References (42)
  • 1
    • 0021266985 scopus 로고
    • Amyloid fibril protein in familial amyloid polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin)
    • 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.
    • (1984) J Clin Invest , vol.74 , pp. 104-119
    • Saraiva, M.J.M.1    Birken, S.2    Costa, P.P.3    Goodman, D.S.4
  • 8
    • 0027465319 scopus 로고
    • Hereditary renal amyloidosis associated with a mutant fibrinogen a-chain
    • Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R. Hereditary renal amyloidosis associated with a mutant fibrinogen a-chain. Nat Genet 1993;3:252-5.
    • (1993) Nat Genet , vol.3 , pp. 252-255
    • Benson, M.D.1    Liepnieks, J.2    Uemichi, T.3    Wheeler, G.4    Correa, R.5
  • 9
    • 0011766298 scopus 로고
    • Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of g-trace basic protein (cystatin C)
    • Ghiso J, Jensson O, Frangione B. Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of g-trace basic protein (cystatin C). Proc Natl Acad Sci USA 1986; 83:2974-8.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 2974-2978
    • Ghiso, J.1    Jensson, O.2    Frangione, B.3
  • 10
    • 0025637651 scopus 로고
    • Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type
    • 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.
    • (1990) Biochem J , vol.272 , pp. 827-830
    • Ghiso, J.1    Haltia, M.2    Prelli, F.3    Novello, J.4    Frangione, B.5
  • 12
    • 0025139469 scopus 로고
    • Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline
    • 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.
    • (1990) FEBS Lett , vol.260 , pp. 85-87
    • Maury, C.P.J.1    Alli, K.2    Baumann, M.3
  • 14
    • 0027533037 scopus 로고
    • Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family
    • 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.
    • (1993) Ann Neurol , vol.33 , pp. 57-62
    • Sunada, Y.1    Shimizu, T.2    Nakase, H.3    Ohta, S.4    Asaoka, T.5    Amano, S.6    Sawa, M.7
  • 15
    • 0029890373 scopus 로고    scopus 로고
    • Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV
    • 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.
    • (1996) Ophthalmology , vol.103 , pp. 1106-1110
    • Akiya, S.1    Nishio, Y.2    Ibi, K.3    Uozumi, H.4    Takahashi, H.5    Hamada, T.6    Onishi, A.7
  • 16
    • 0026764358 scopus 로고
    • Familial amyloidosis, Finnish type: G654-a mutation of the gelsolin gene in Finnish families and an unrelated American family
    • de la Chapelle A, Kere J, Sack Jr GH, 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.
    • (1992) Genomics , vol.13 , pp. 898-901
    • De La Chapelle, A.1    Kere, J.2    Sack, G.H.3    Tolvanen, R.4    Maury, C.P.J.5
  • 17
    • 0021040206 scopus 로고
    • Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome)
    • Purcell Jr JJ, Rodrigues M, Chishti MI, Riner RN, Dooley JM. Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome). Ophthalmology 1983;90: 1512-17.
    • (1983) Ophthalmology , vol.90 , pp. 1512-1517
    • Purcell, J.J.1    Rodrigues, M.2    Chishti, M.I.3    Riner, R.N.4    Dooley, J.M.5
  • 18
    • 0034057570 scopus 로고    scopus 로고
    • Late onset lattice corneal dystrophy with systemic familial amyl-oidosis, amyloidosis V, in an English family
    • Stewart HS, Parveen R, Ridgway AE, Bonshek R, Black GC, et al. Late onset lattice corneal dystrophy with systemic familial amyl-oidosis, amyloidosis V, in an English family. Br J Ophthalmol 2000; 84:390-4.
    • (2000) Br J Ophthalmol , vol.84 , pp. 390-394
    • Stewart, H.S.1    Parveen, R.2    Ridgway, A.E.3    Bonshek, R.4    Black, G.C.5
  • 19
    • 34447116987 scopus 로고    scopus 로고
    • Lattice corneal dystrophy type II: Clinical, pathologic, and molecular study in a Spanish family
    • 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.
    • (2007) Eur J Ophthalmol , vol.17 , pp. 424-429
    • Huerva, V.1    Velasco, A.2    Sanchez, M.C.3    Mateo, A.J.4    Matias-Guiu, X.5
  • 20
    • 30344467836 scopus 로고    scopus 로고
    • Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene
    • 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.
    • (2006) Muscle Nerve , vol.33 , pp. 113-119
    • Chastan, N.1    Baert-Desurmont, S.2    Saugier-Veber, P.3    Derumeaux, G.4    Cabot, A.5    Frebourg, T.6    Hannequin, D.7
  • 21
    • 77951290391 scopus 로고    scopus 로고
    • Hereditary amyloidosis of the Finnish type in a German family: Clinical and electrophysiological presentation
    • 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.
    • (2010) Muscle Nerve , vol.41 , pp. 679-684
    • Luttmann, R.J.1    Teismann, I.2    Husstedt, I.W.3    Ringelstein, E.B.4    Kuhlenbaumer, G.5
  • 22
    • 0033984723 scopus 로고    scopus 로고
    • 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)
    • 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.
    • (2000) J Clin Pathol , vol.53 , pp. 95-99
    • Maury, C.P.1    Liljestrom, M.2    Boysen, G.3    Tornroth, T.4    De La Chapelle, A.5    Nurmiaho-Lassila, E.L.6
  • 25
    • 33846029140 scopus 로고    scopus 로고
    • Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: The first report from the Middle East
    • 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.
    • (2007) Nephrol Dial Transplant , vol.22 , pp. 272-275
    • Ardalan, M.R.1    Shoja, M.M.2    Kiuru-Enari, S.3
  • 26
    • 0025779730 scopus 로고
    • Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin
    • 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.
    • (1991) J Clin Invest , vol.87 , pp. 1195-1199
    • Maury, C.P.J.1
  • 29
  • 30
    • 0032012657 scopus 로고    scopus 로고
    • Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. Amyloid
    • Kiuru S. Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. Amyloid: Int J Exp Clin Invest 1998;5:55-66.
    • (1998) Int J Exp Clin Invest , vol.5 , pp. 55-66
    • Kiuru, S.1
  • 34
    • 0032879776 scopus 로고    scopus 로고
    • Isolation and characterization of amyloid fibrils from tissue
    • Wetzel R, ed San Diego, CA: Academic Press Ltd
    • 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.
    • (1999) Methods in Enzymology: Amyloid, Prions and Other Protein Aggregates , vol.309 , pp. 26-47
    • Tennent, G.A.1
  • 35
    • 52649137511 scopus 로고    scopus 로고
    • Immunoglobulin derived depositions in the nervous system: Novel mass spectrometry application for protein characterization in formalin-fixed tissues
    • 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.
    • (2008) Lab Invest , vol.88 , pp. 1024-1037
    • Rodriguez, F.J.1    Gamez, J.D.2    Vrana, J.A.3    Theis, J.D.4    Giannini, C.5    Scheithauer, B.W.6    Parisi, J.E.7
  • 36
    • 0033434080 scopus 로고    scopus 로고
    • Probability-based protein identification by searching sequence databases using mass spectrometry data
    • 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.
    • (1999) Electrophoresis , vol.20 , pp. 3551-3567
    • Perkins, D.N.1    Pappin, D.J.2    Creasy, D.M.3    Cottrell, J.S.4
  • 37
    • 0025025397 scopus 로고
    • 123I-labeled serum amyloid P component
    • 123I-labeled serum amyloid P component. N Engl J Med 1990; 323:508-13.
    • (1990) N Engl J Med , vol.323 , pp. 508-513
    • Hawkins, P.N.1
  • 38
    • 0022487183 scopus 로고
    • Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain
    • 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.
    • (1986) Nature , vol.323 , pp. 455-458
    • Kwiatkowski, D.J.1    Stossel, T.P.2    Orkin, S.H.3    Mole, J.E.4    Colten, H.R.5    Yin, H.L.6
  • 39
    • 0021356287 scopus 로고
    • Structure and biosynthesis of cytoplasmic and secreted variants of gelsolin
    • 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.
    • (1984) J Biol Chem , vol.259 , pp. 5271-5276
    • Yin, H.L.1    Kwiatkowski, D.J.2    Mole, J.E.3    Cole, F.S.4
  • 40
    • 0034718543 scopus 로고    scopus 로고
    • Elucidating the mechanism of familial amyloidosis-Finnish type: NMR studies of human gelsolin domain 2
    • 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.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 10706-10711
    • Kazmirski, S.L.1    Howard, M.J.2    Isaacson, R.L.3    Fersht, A.R.4
  • 41
    • 84875751261 scopus 로고    scopus 로고
    • Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: A report of two cases
    • 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.
    • (2013) Clin Kidney J , vol.6 , pp. 189-193
    • Yamanaka, S.1    Miyazaki, Y.2    Kasai, K.3    Ikeda, S.4    Kiuru-Enari, S.5    Hosoya, T.6
  • 42
    • 0026729321 scopus 로고
    • Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease
    • 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.
    • (1992) Genomics , vol.13 , pp. 902-903
    • Maury, C.P.1    Kere, J.2    Tolvanen, R.3    De La Chapelle, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.