메뉴 건너뛰기




Volumn 56, Issue 9, 1999, Pages 1152-1155

Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; DNA; PHENYLALANINE; PREALBUMIN; SERINE; THYMINE;

EID: 0032886881     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.56.9.1152     Document Type: Article
Times cited : (66)

References (30)
  • 1
    • 0001999309 scopus 로고
    • Amyloidosis
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York, NY: McGraw Hill Book Co
    • Benson MD. Amyloidosis. in: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw Hill Book Co; 1995:4159-4191.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. , pp. 4159-4191
    • Benson, M.D.1
  • 2
    • 1842527698 scopus 로고    scopus 로고
    • Transthyretin amyloidosis
    • Benson MD, Uemichi T. Transthyretin amyloidosis. Amyloid. 1996;3:44-56.
    • (1996) Amyloid , vol.3 , pp. 44-56
    • Benson, M.D.1    Uemichi, T.2
  • 3
    • 0030945339 scopus 로고    scopus 로고
    • The evolution of gene expression, structure and function of transthyretin
    • Schriber G, Richerdson SJ. The evolution of gene expression, structure and function of transthyretin. Comp Biochem Physiol B Biochem Mol Biol. 1997;116: 137-160.
    • (1997) Comp Biochem Physiol B Biochem Mol Biol. , vol.116 , pp. 137-160
    • Schriber, G.1    Richerdson, S.J.2
  • 4
    • 0020959150 scopus 로고
    • Polymorphism of human plasma thyroxine binding prealbumin
    • Dwulet FE, Benson MD. Polymorphism of human plasma thyroxine binding prealbumin. Biochem Biophys Res Commun. 1983;114:657-662.
    • (1983) Biochem Biophys Res Commun. , vol.114 , pp. 657-662
    • Dwulet, F.E.1    Benson, M.D.2
  • 5
    • 0023741439 scopus 로고
    • Familial oculoleptomeningeal amyloidosis: Report of a new family with unusual features
    • Uitti RJ, Donat JR, Rozdilsky B, Schneider RJ, Koeppen AH. Familial oculoleptomeningeal amyloidosis: report of a new family with unusual features. Arch Neurol. 1988;45:1118-1122.
    • (1988) Arch Neurol. , vol.45 , pp. 1118-1122
    • Uitti, R.J.1    Donat, J.R.2    Rozdilsky, B.3    Schneider, R.J.4    Koeppen, A.H.5
  • 6
    • 0030040173 scopus 로고    scopus 로고
    • Meningocerebrovascular amyloidosis associated with a novel transthyretin (TTR) missense mutation at codon 18 (TTRD18G)
    • Vidal R, Garzuly F, Budka H, et al. Meningocerebrovascular amyloidosis associated with a novel transthyretin (TTR) missense mutation at codon 18 (TTRD18G). Am J Pathol. 1996;148:361-366.
    • (1996) Am J Pathol. , vol.148 , pp. 361-366
    • Vidal, R.1    Garzuly, F.2    Budka, H.3
  • 7
    • 0023258542 scopus 로고
    • DNA banking: The effects of storage of blood and isolated DNA on the integrity of DNA
    • Madisen L, Hoar DI, Holroyd CD, Crisp M, Hodes ME. DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA. Am J Med Genet. 1987;27:379-390.
    • (1987) Am J Med Genet. , vol.27 , pp. 379-390
    • Madisen, L.1    Hoar, D.I.2    Holroyd, C.D.3    Crisp, M.4    Hodes, M.E.5
  • 8
    • 0025006134 scopus 로고
    • A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy
    • 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: 318-323.
    • (1990) Genomics , vol.8 , pp. 318-323
    • Nichols, W.C.1    Gregg, R.E.2    Brewer, H.B.3    Benson, M.D.4
  • 9
    • 0024745055 scopus 로고
    • Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification
    • Nichols WC, Liepnieks JJ, McKusick VA, Benson MD. Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. Genomics. 1989;5:535-540.
    • (1989) Genomics , vol.5 , pp. 535-540
    • Nichols, W.C.1    Liepnieks, J.J.2    McKusick, V.A.3    Benson, M.D.4
  • 11
    • 0029730803 scopus 로고    scopus 로고
    • Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp1BGly)
    • Garzuly F, Wisniewski T, Brittig F, Budka H. Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp1BGly). Neurology. 1996;47:1562-1567.
    • (1996) Neurology , vol.47 , pp. 1562-1567
    • Garzuly, F.1    Wisniewski, T.2    Brittig, F.3    Budka, H.4
  • 12
    • 0018952424 scopus 로고
    • Familial oculoleptomeningeal amyloidosis
    • Goren H, Steinberg MC, Farboody GH. Familial oculoleptomeningeal amyloidosis. Brain. 1980;103:473-495.
    • (1980) Brain , vol.103 , pp. 473-495
    • Goren, H.1    Steinberg, M.C.2    Farboody, G.H.3
  • 13
    • 0031055128 scopus 로고    scopus 로고
    • Transthyretin amyloidosis: A new mutation associated with dementia
    • Petersen RB, Goren H, Cohen M, et al. Transthyretin amyloidosis: a new mutation associated with dementia. Ann Neurol. 1997;41:307-313.
    • (1997) Ann Neurol. , vol.41 , pp. 307-313
    • Petersen, R.B.1    Goren, H.2    Cohen, M.3
  • 14
    • 0012762449 scopus 로고    scopus 로고
    • Three new amyloidogenic TTR mutations: PR012, GLU18, and VAL 33
    • Booth DR, Booth SE, Persey MR, et al. Three new amyloidogenic TTR mutations: PR012, GLU18, and VAL 33 [abstract]. Neuromuscul Disord. 1996;6 (suppl):S20.
    • (1996) Neuromuscul Disord. , vol.6 , Issue.SUPPL.
    • Booth, D.R.1    Booth, S.E.2    Persey, M.R.3
  • 15
    • 0017824077 scopus 로고
    • Structure of prealbumin: Secondary, tertiary and quaternary interactions determined by fourier refinement at 1.8 Å
    • Blake CCF, Geisow MJ, Oatley SJ, Rerat B, Rerat C. Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 Å. J Mol Biol. 1978;121:339-356.
    • (1978) J Mol Biol. , vol.121 , pp. 339-356
    • Blake, C.C.F.1    Geisow, M.J.2    Oatley, S.J.3    Rerat, B.4    Rerat, C.5
  • 16
    • 0025892926 scopus 로고
    • Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations
    • Ii S, Minnerath S, Ii K, Dyck PJ, Sommer SS. Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. Neurology. 1991; 41:893-898.
    • (1991) Neurology , vol.41 , pp. 893-898
    • Ii, S.1    Minnerath, S.2    Ii, K.3    Dyck, P.J.4    Sommer, S.S.5
  • 17
    • 9044222477 scopus 로고    scopus 로고
    • Homozygosity and heterozygosity for the transthyretin Leu64 mutation: Clinical, biochemical and molecular findings
    • Ferlini A, Salvi F, Uncini A, et al. Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings. Clin Genet. 1996;49:10-14.
    • (1996) Clin Genet. , vol.49 , pp. 10-14
    • Ferlini, A.1    Salvi, F.2    Uncini, A.3
  • 18
    • 0026548393 scopus 로고
    • Familial amyloidotic polyneuropathy: A new transthyretin position 30 mutation (alanine for valine) in a family of German descent
    • Jones LA, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M. Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet. 1992;41:70-73.
    • (1992) Clin Genet. , vol.41 , pp. 70-73
    • Jones, L.A.1    Skare, J.C.2    Cohen, A.S.3    Harding, J.A.4    Milunsky, A.5    Skinner, M.6
  • 19
    • 0026748565 scopus 로고
    • Identification of a novel transthyretin variant (Val30-Leu) associated with familial amyloidotic polyneuropathy
    • Nakazato M, Ikeda S, Shiomi K, et al. Identification of a novel transthyretin variant (Val30-Leu) associated with familial amyloidotic polyneuropathy. FEBS Lett. 1992;306:206-208.
    • (1992) FEBS Lett. , vol.306 , pp. 206-208
    • Nakazato, M.1    Ikeda, S.2    Shiomi, K.3
  • 20
    • 0025296269 scopus 로고
    • Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type
    • Levy E, Carman MD, Fernandez-Madrid IJ, et al. Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science. 1990; 248:1124-1126.
    • (1990) Science , vol.248 , pp. 1124-1126
    • Levy, E.1    Carman, M.D.2    Fernandez-Madrid, I.J.3
  • 21
    • 0026879650 scopus 로고
    • Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β-amyloid precursor protein gene
    • Hendriks L, van Duijn CM, Cras P, et al. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β-amyloid precursor protein gene. Nat Genet. 1992;1:218-221.
    • (1992) Nat Genet. , vol.1 , pp. 218-221
    • Hendriks, L.1    Van Duijn, C.M.2    Cras, P.3
  • 22
    • 0023254674 scopus 로고
    • Cerebral amyloid angiopathy: A critical review
    • Vinters. Cerebral amyloid angiopathy: a critical review. Stroke. 1987;18:311-324.
    • (1987) Stroke , vol.18 , pp. 311-324
    • Vinters1
  • 23
    • 0011766298 scopus 로고
    • Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of icelandic type is a variant of gamma-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 gamma-trace basic protein (cystatin C). Proc Natl Acad Sci U S A. 1986;83:2974-2978.
    • (1986) Proc Natl Acad Sci U S A , vol.83 , pp. 2974-2978
    • Ghiso, J.1    Jensson, O.2    Frangione, B.3
  • 24
    • 0022628925 scopus 로고
    • Transthyretin: A choroid plexus-specific transport protein in human brain
    • Herbert J, Wilcox JN, Pham KT, et al. Transthyretin: a choroid plexus-specific transport protein in human brain. Neurology. 1986;36:900-911.
    • (1986) Neurology , vol.36 , pp. 900-911
    • Herbert, J.1    Wilcox, J.N.2    Pham, K.T.3
  • 25
    • 0020683665 scopus 로고
    • The concentration of prealbumin in cerebrospinal fluid: Indicator of CSF circulation disorders
    • Weisner B, Roethig HJ. The concentration of prealbumin in cerebrospinal fluid: indicator of CSF circulation disorders. Eur Neurol. 1983;22:96-105.
    • (1983) Eur Neurol. , vol.22 , pp. 96-105
    • Weisner, B.1    Roethig, H.J.2
  • 26
    • 0021706934 scopus 로고
    • Abnormal metabolism of γ-trace alkaline microprotein: The basic defect in hereditary cerebral hemorrhage with amyloidosis
    • Grubb A, Jensson O, Gudmundsson G, Arnason A, Lofberg H, Malm J. Abnormal metabolism of γ-trace alkaline microprotein: the basic defect in hereditary cerebral hemorrhage with amyloidosis. N Engl J Med. 1984;311:1547-1549.
    • (1984) N Engl J Med. , vol.311 , pp. 1547-1549
    • Grubb, A.1    Jensson, O.2    Gudmundsson, G.3    Arnason, A.4    Lofberg, H.5    Malm, J.6
  • 27
    • 0028981272 scopus 로고
    • In vitro production of β-amyloid in smooth muscle cells isolated from amyloid angiopathy-affected vessels
    • Wisniewski HM, Frackowiak J, Mazur-Kolecka B. In vitro production of β-amyloid in smooth muscle cells isolated from amyloid angiopathy-affected vessels. Neurosci Lett. 1995;183:120-123.
    • (1995) Neurosci Lett. , vol.183 , pp. 120-123
    • Wisniewski, H.M.1    Frackowiak, J.2    Mazur-Kolecka, B.3
  • 28
    • 0030932240 scopus 로고    scopus 로고
    • Expression of amyloid precursor protein mRNA in vascular smooth muscle cells of the human brain
    • Takahashi RH, Sawa H, Takada A, et al. Expression of amyloid precursor protein mRNA in vascular smooth muscle cells of the human brain. Neuropathology. 1997; 17:11-14.
    • (1997) Neuropathology , vol.17 , pp. 11-14
    • Takahashi, R.H.1    Sawa, H.2    Takada, A.3
  • 29
    • 0024454072 scopus 로고
    • Spinal claudication in systemic amyloidosis
    • Harats N, Worth R, Benson MD. Spinal claudication in systemic amyloidosis. J Rheumatol. 1989;16:1003-1006.
    • (1989) J Rheumatol. , vol.16 , pp. 1003-1006
    • Harats, N.1    Worth, R.2    Benson, M.D.3
  • 30
    • 0030075631 scopus 로고    scopus 로고
    • Leptomeningeal amyloid and variant transthyretins
    • Benson MD. Leptomeningeal amyloid and variant transthyretins. Am J Pathol. 1996;148:351-354.
    • (1996) Am J Pathol. , vol.148 , pp. 351-354
    • Benson, M.D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.