메뉴 건너뛰기




Volumn 5, Issue 1, 2014, Pages 92-97

Vitreous amyloidosis as the presenting symptom of familial amyloid polyneuropathy TTR Val30Met in a Portuguese patient

Author keywords

Familial amyloid polyneuropathy; Transthyretin; Vitreous amyloidosis

Indexed keywords

PREALBUMIN; AMYLOID;

EID: 84900444159     PISSN: None     EISSN: 16632699     Source Type: Journal    
DOI: 10.1159/000360790     Document Type: Article
Times cited : (15)

References (30)
  • 1
    • 22844447647 scopus 로고    scopus 로고
    • Transthyretin-related familial amyloidotic polyneuropathy
    • DOI 10.1001/archneur.62.7.1057
    • Ando Y, Nakamura M, Araki S: Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol 2005;62:1057-1062. (Pubitemid 41043725)
    • (2005) Archives of Neurology , vol.62 , Issue.7 , pp. 1057-1062
    • Ando, Y.1    Nakamura, M.2    Araki, S.3
  • 2
    • 34848818004 scopus 로고    scopus 로고
    • The molecular biology and clinical features of amyloid neuropathy
    • DOI 10.1002/mus.20821
    • Benson MD, Kincaid JC: The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007;36:411-423. (Pubitemid 47512065)
    • (2007) Muscle and Nerve , vol.36 , Issue.4 , pp. 411-423
    • Benson, M.D.1    Kincaid, J.C.2
  • 4
    • 0022628925 scopus 로고
    • Transthyretin: A choroid plexus-specific transport protein in human brain. The 1986 S. Weir Mitchell Award
    • Herbert J, Wilcox JN, Pham KT, Fremeau RT Jr, Zeviani M, Dwork A, et al: Transthyretin: a choroid plexus-specific transport protein in human brain. Neurology 1986;36:900-911. (Pubitemid 16098232)
    • (1986) Neurology , vol.36 , Issue.7 , pp. 900-911
    • Herbert, J.1    Wilcox, J.N.2    Pham, K.-T.C.3
  • 6
    • 0029562263 scopus 로고
    • Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (North of Portugal)
    • DOI 10.1002/ajmg.1320600606
    • Sousa A, Coelho T, Barros J, Sequeiros J: Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal). Am J Med Genet 1995;60:512-521. (Pubitemid 26002118)
    • (1995) American Journal of Medical Genetics - Neuropsychiatric Genetics , vol.60 , Issue.6 , pp. 512-521
    • Sousa, A.1    Coelho, T.2    Barros, J.3    Sequeiros, J.4
  • 7
    • 0023091943 scopus 로고
    • Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients
    • Ikeda S, Hanyu N, Hongo M, Yoshioka J, Oguchi H, Yanagisawa N, Kobayashi T, Tsukagoshi H, Ito N, Yokota T: Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients. Brain 1987;110:315-337. (Pubitemid 17055815)
    • (1987) Brain , vol.110 , Issue.2 , pp. 315-337
    • Ikeda, S.-I.1    Hanyu, N.2    Hongo, M.3
  • 9
    • 21244433163 scopus 로고    scopus 로고
    • Genetic epidemiology of familial amyloid polyneuropathy in the Balearic Islands (Spain)
    • DOI 10.1080/13506120500032741
    • Munar-Qués M, Saraiva MJ, Viader-Farré C, Zabay-Becerril JM, Mulet-Ferrer J: Genetic epidemiology of familial amyloid polyneuropathy in the Balearic Islands (Spain). Amyloid 2005;12:54-61. (Pubitemid 40896945)
    • (2005) Amyloid , vol.12 , Issue.1 , pp. 54-61
    • Munar-Ques, M.1    Saraiva, M.J.M.2    Viader-Farre, C.3    Zabay-Becerril, J.M.4    Mulet-Ferrer, J.5
  • 10
    • 77957180065 scopus 로고
    • A peculiar form of peripheral neuropathy; Familiar atypical generalized amyloidosis with special involvement of the peripheral nerves
    • Andrade C: A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952;75:408-427.
    • (1952) Brain , vol.75 , pp. 408-427
    • Andrade, C.1
  • 11
    • 0008974449 scopus 로고
    • Familial primary amyloidosis with nervous system involvement
    • Kantarjian AD, DeJong RN: Familial primary amyloidosis with nervous system involvement. Neurology 1953;3:399-409.
    • (1953) Neurology , vol.3 , pp. 399-409
    • Kantarjian, A.D.1    Dejong, R.N.2
  • 12
    • 0014382710 scopus 로고
    • Vitreous opacities in primary familial amyloidosis
    • Andersson R, Kassman T: Vitreous opacities in primary familial amyloidosis. Acta Ophthalmol (Copenh) 1968;46:441-447.
    • (1968) Acta Ophthalmol (Copenh) , vol.46 , pp. 441-447
    • Andersson, R.1    Kassman, T.2
  • 13
    • 84966163164 scopus 로고
    • Ocular changes in familial amyloidotic polyneuropathy with dense vitreous opacities
    • Monteiro JG, Martins AF, Figueira A, Saraiva MJ, Costa PP: Ocular changes in familial amyloidotic polyneuropathy with dense vitreous opacities. Eye 1991;5:99-105.
    • (1991) Eye , vol.5 , pp. 99-105
    • Monteiro, J.G.1    Martins, A.F.2    Figueira, A.3    Saraiva, M.J.4    Costa, P.P.5
  • 14
    • 84865218034 scopus 로고    scopus 로고
    • Vitreous surgery impact in glaucoma development in liver transplanted familial amyloidosis ATTR V30M Portuguese patients
    • Beirão NM, Matos ME, Menéres MJ, Beirão IM, Costa PP, Torres PA: Vitreous surgery impact in glaucoma development in liver transplanted familial amyloidosis ATTR V30M Portuguese patients. Amyloid 2012;19:145-151.
    • (2012) Amyloid , vol.19 , pp. 145-151
    • Beirão, N.M.1    Matos, M.E.2    Menéres, M.J.3    Beirão, I.M.4    Costa, P.P.5    Torres, P.A.6
  • 15
    • 76349115825 scopus 로고    scopus 로고
    • Impact of liver transplantation on transthyretin-related ocular amyloidosis in Japanese patients
    • Hara R, Kawaji T, Ando E, Ohya Y, Ando Y, Tanihara H: Impact of liver transplantation on transthyretin-related ocular amyloidosis in Japanese patients. Arch Ophthalmol 2010;128:206-210.
    • (2010) Arch Ophthalmol , vol.128 , pp. 206-210
    • Hara, R.1    Kawaji, T.2    Ando, E.3    Ohya, Y.4    Ando, Y.5    Tanihara, H.6
  • 16
    • 0030910351 scopus 로고    scopus 로고
    • Ocular manifestations of familial amyloidotic polyneuropathy type I: Long term follow up
    • Ando E, Ando Y, Okamura R, Uchino M, Ando M, Negi A: Ocular manifestations of familial amyloidotic polyneuropathy type I: long-term follow up. Br J Ophthalmol 1997;81:295-298. (Pubitemid 27196759)
    • (1997) British Journal of Ophthalmology , vol.81 , Issue.4 , pp. 295-298
    • Ando, E.1    Ando, Y.2    Okamura, R.3    Uchino, M.4    Ando, M.5    Negi, A.6
  • 18
    • 0028809916 scopus 로고
    • Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation
    • Ciulla TA, Tolentino F, Morrow JF, Dryja TP: Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation. Surv Ophthalmol 1995;40:197-206.
    • (1995) Surv Ophthalmol , vol.40 , pp. 197-206
    • Ciulla, T.A.1    Tolentino, F.2    Morrow, J.F.3    Dryja, T.P.4
  • 20
    • 0016965819 scopus 로고
    • Bilateral amyloidosis of the vitreous body without systemic involvement
    • Ferry AP, Lieberman TW: Bilateral amyloidosis of the vitreous body without systemic involvement. Arch Ophthalmol 1976;94:982-991.
    • (1976) Arch Ophthalmol , vol.94 , pp. 982-991
    • Ferry, A.P.1    Lieberman, T.W.2
  • 22
  • 23
    • 29144487113 scopus 로고    scopus 로고
    • Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome
    • DOI 10.1136/jmg.2005.033720
    • Holmgren G, Hellman U, Lundgren HE, Sandgren O, Suhr OB: Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome. J Med Genet 2005;42:953-956. (Pubitemid 41811319)
    • (2005) Journal of Medical Genetics , vol.42 , Issue.12 , pp. 953-956
    • Holmgren, G.1    Hellman, U.2    Lundgren, H.-E.3    Sandgren, O.4    Suhr, O.B.5
  • 24
    • 0037310462 scopus 로고    scopus 로고
    • Vitreous opacities and outcome of vitreous surgery in patients with familial amyloidotic polyneuropathy
    • DOI 10.1016/S0002-9394(02)01838-X, PII S000293940201838X
    • Koga T, Ando E, Hirata A, Fukushima M, Kimura A, Ando Y, Negi A, Tanihara H: Vitreous opacities and outcome of vitreous surgery in patients with familial amyloidotic polyneuropathy. Am J Ophthalmol 2003;135:188-193. (Pubitemid 36151796)
    • (2003) American Journal of Ophthalmology , vol.135 , Issue.2 , pp. 188-193
    • Koga, T.1    Ando, E.2    Hirata, A.3    Fukushima, M.4    Kimura, A.5    Ando, Y.6    Negi, A.7    Tanihara, H.8
  • 25
    • 0028882249 scopus 로고
    • Ocular amyloidosis, with special reference to the hereditary forms with vitreous involvement
    • Sandgren O: Ocular amyloidosis, with special reference to the hereditary forms with vitreous involvement. Surv Ophthalmol 1995;40:173-196.
    • (1995) Surv Ophthalmol , vol.40 , pp. 173-196
    • Sandgren, O.1
  • 26
    • 79961208874 scopus 로고    scopus 로고
    • Recurrence of vitreous amyloidosis and need of surgical reintervention in Portuguese patients with familial amyloidosis ATTR V30M
    • Beirão NM, Matos E, Beirão I, Costa PP, Torres P: Recurrence of vitreous amyloidosis and need of surgical reintervention in Portuguese patients with familial amyloidosis ATTR V30M. Retina 2011;31:1373-1377.
    • (2011) Retina , vol.31 , pp. 1373-1377
    • Beirão, N.M.1    Matos, E.2    Beirão, I.3    Costa, P.P.4    Torres, P.5
  • 27
    • 0017254368 scopus 로고
    • Vitreous opacities in primary amyloid disease. A clinical, histochemical, and ultrastructural report
    • Hitchings RA, Tripathi RC: Vitreous opacities in primary amyloid disease. A clinical, histochemical, and ultrastructural report. Br J Ophthalmol 1976;60:41-54.
    • (1976) Br J Ophthalmol , vol.60 , pp. 41-54
    • Hitchings, R.A.1    Tripathi, R.C.2
  • 30
    • 0029851464 scopus 로고    scopus 로고
    • De novo amyloid synthesis in ocular tissue in familial amyloidotic polyneuropathy after liver transplantation
    • Ando Y, Ando E, Tanaka Y, Yamashita T, Tashima K, Suga M, Uchino M, Negi A: De novo amyloid synthesis in ocular tissue in familial amyloidotic polyneuropathy after liver transplantation. Transplantation 1996;62:1037-1038. (Pubitemid 26360371)
    • (1996) Transplantation , vol.62 , Issue.7 , pp. 1037-1038
    • Ando, Y.1    Ando, E.2    Tanaka, Y.3    Yamashita, T.4    Tashima, K.5    Suga, M.6    Uchino, M.7    Negi, A.8    Ando, M.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.