메뉴 건너뛰기




Volumn 129, Issue 11, 2006, Pages 2966-2976

Phenotype associated with APP duplication in five families

Author keywords

Alzheimer's disease; Amyloid angiopathy; APP duplication; Down's syndrome; Intracerebral haemorrhage

Indexed keywords

AMYLOID BETA PROTEIN[25-35]; AMYLOID PRECURSOR PROTEIN;

EID: 33749066060     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl237     Document Type: Article
Times cited : (231)

References (74)
  • 1
    • 0030944034 scopus 로고    scopus 로고
    • A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI
    • Aoki M, Abe K, Oda N, Ikeda M, Tsuda T, Kanai M, et al. A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI. Neurology 1997; 48: 1118-20.
    • (1997) Neurology , vol.48 , pp. 1118-1120
    • Aoki, M.1    Abe, K.2    Oda, N.3    Ikeda, M.4    Tsuda, T.5    Kanai, M.6
  • 3
    • 14444267540 scopus 로고    scopus 로고
    • Characterization of new polyclonal antibodies specific for 40 and 42 amino acid-long amyloid beta peptides: Their use to examine the cell biology of presenilins and the immunohistochemistry of sporadic Alzheimer's disease and cerebral amyloid angiopathy cases
    • Barelli H, Lebeau A, Vizzavona J, Delaere P, Chevallier N, Drouot C, et al. Characterization of new polyclonal antibodies specific for 40 and 42 amino acid-long amyloid beta peptides: their use to examine the cell biology of presenilins and the immunohistochemistry of sporadic Alzheimer's disease and cerebral amyloid angiopathy cases. Mol Med 1997; 3: 695-707.
    • (1997) Mol Med , vol.3 , pp. 695-707
    • Barelli, H.1    Lebeau, A.2    Vizzavona, J.3    Delaere, P.4    Chevallier, N.5    Drouot, C.6
  • 4
    • 0023038114 scopus 로고
    • Cerebral amyloid angiopathy in Down's syndrome
    • Belza MG, Urich H. Cerebral amyloid angiopathy in Down's syndrome. Clin Neuropathol 1986; 5: 257-60.
    • (1986) Clin Neuropathol , vol.5 , pp. 257-260
    • Belza, M.G.1    Urich, H.2
  • 5
    • 0025863618 scopus 로고
    • Neuropathological stageing of Alzheimer-related changes
    • Braak H, Braak E. Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol (Berl) 1991; 82: 239-59.
    • (1991) Acta Neuropathol (Berl) , vol.82 , pp. 239-259
    • Braak, H.1    Braak, E.2
  • 6
    • 8644275574 scopus 로고    scopus 로고
    • Hemorrhage is uncommon in new Alzheimer family with Flemish amyloid precursor protein mutation
    • Brooks WS, Kwok JB, Halliday GM, Godbolt AK, Rossor MN, Creasey H, et al. Hemorrhage is uncommon in new Alzheimer family with Flemish amyloid precursor protein mutation. Neurology 2004; 63: 1613-7.
    • (2004) Neurology , vol.63 , pp. 1613-1617
    • Brooks, W.S.1    Kwok, J.B.2    Halliday, G.M.3    Godbolt, A.K.4    Rossor, M.N.5    Creasey, H.6
  • 7
    • 1642525877 scopus 로고    scopus 로고
    • Beta-related cerebral amyloid angiopathy
    • Bugiani OA. Beta-related cerebral amyloid angiopathy. Neurol Sci 2004; 25 (Suppl 1): S1-S2.
    • (2004) Neurol Sci , vol.25 , Issue.SUPPL. 1
    • Bugiani, O.A.1
  • 8
    • 0025549363 scopus 로고
    • Formal and semantic lexical evocation in normal subjects. Performance and dynamics of production as a function of sex, age and educational level
    • Cardebat D, Doyon B, Puel M, Goulet P, Joanette Y. [Formal and semantic lexical evocation in normal subjects. Performance and dynamics of production as a function of sex, age and educational level]. Acta Neurol Belg 1990; 90: 207-17.
    • (1990) Acta Neurol Belg , vol.90 , pp. 207-217
    • Cardebat, D.1    Doyon, B.2    Puel, M.3    Goulet, P.4    Joanette, Y.5
  • 9
    • 4644319713 scopus 로고    scopus 로고
    • Abeta localization in abnormal endosomes: Association with earliest Abeta elevations in AD and Down syndrome
    • Cataldo AM, Petanceska S, Terio NB, Peterhoff CM, Durham R, Mercken M, et al. Abeta localization in abnormal endosomes: association with earliest Abeta elevations in AD and Down syndrome. Neurobiol Aging 2004; 25: 1263-72.
    • (2004) Neurobiol Aging , vol.25 , pp. 1263-1272
    • Cataldo, A.M.1    Petanceska, S.2    Terio, N.B.3    Peterhoff, C.M.4    Durham, R.5    Mercken, M.6
  • 11
    • 0031742418 scopus 로고    scopus 로고
    • Flemish and Dutch mutations in amyloid beta precursor protein have different effects on amyloid beta secretion
    • De Jonghe C, Zehr C, Yager D, Prada CM, Younkin S, Hendriks L, et al. Flemish and Dutch mutations in amyloid beta precursor protein have different effects on amyloid beta secretion. Neurobiol Dis 1998; 5: 281-6.
    • (1998) Neurobiol Dis , vol.5 , pp. 281-286
    • De Jonghe, C.1    Zehr, C.2    Yager, D.3    Prada, C.M.4    Younkin, S.5    Hendriks, L.6
  • 12
    • 33747662817 scopus 로고    scopus 로고
    • Paris: Edition du Centre de Psychologie Appliquée
    • Deloche G, Hannequin D. DO80. Paris: Edition du Centre de Psychologie Appliquée; 1997.
    • (1997) DO80
    • Deloche, G.1    Hannequin, D.2
  • 13
    • 0031908627 scopus 로고    scopus 로고
    • Intracerebral hemorrhage in two patients with Down's syndrome and cerebral amyloid angiopathy
    • Donahue JE, Khurana JS, Adelman LS. Intracerebral hemorrhage in two patients with Down's syndrome and cerebral amyloid angiopathy. Acta Neuropathol (Berl) 1998; 95: 213-6.
    • (1998) Acta Neuropathol (Berl) , vol.95 , pp. 213-216
    • Donahue, J.E.1    Khurana, J.S.2    Adelman, L.S.3
  • 14
    • 0034642168 scopus 로고    scopus 로고
    • The FAB: A frontal assessment battery at bedside
    • Dubois B, Slachevsky A, Litvan I, Pillon B. The FAB: a frontal assessment battery at bedside. Neurology 2000; 55: 1621-6.
    • (2000) Neurology , vol.55 , pp. 1621-1626
    • Dubois, B.1    Slachevsky, A.2    Litvan, I.3    Pillon, B.4
  • 15
    • 0029973286 scopus 로고    scopus 로고
    • Cerebral amyloid angiopathy in the brains of patients with Alzheimer's disease: The CERAD experience, part XV
    • Ellis RJ, Olichney JM, Thal LJ, Mirra SS, Morris JC, Beekly D, et al. Cerebral amyloid angiopathy in the brains of patients with Alzheimer's disease: the CERAD experience, part XV. Neurology 1996; 46: 1592-6.
    • (1996) Neurology , vol.46 , pp. 1592-1596
    • Ellis, R.J.1    Olichney, J.M.2    Thal, L.J.3    Mirra, S.S.4    Morris, J.C.5    Beekly, D.6
  • 16
    • 0036320770 scopus 로고    scopus 로고
    • Estrogen-mediated neuroprotection against beta-amyloid toxicity requires expression of estrogen receptor alpha or beta and activation of the MAPK pathway
    • Fitzpatrick JL, Mize AL, Wade CB, Harris JA, Shapiro RA, Dorsa DM. Estrogen-mediated neuroprotection against beta-amyloid toxicity requires expression of estrogen receptor alpha or beta and activation of the MAPK pathway. J Neurochem 2002; 82: 674-82.
    • (2002) J Neurochem , vol.82 , pp. 674-682
    • Fitzpatrick, J.L.1    Mize, A.L.2    Wade, C.B.3    Harris, J.A.4    Shapiro, R.A.5    Dorsa, D.M.6
  • 17
    • 0016823810 scopus 로고
    • 'Mini-Mental State'. A practical method for grading the cognitive state of patients for the clinician
    • Folstein MF, Folstein SE, McHugh PR. 'Mini-Mental State'. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975; 12: 189-98.
    • (1975) J Psychiatr Res , vol.12 , pp. 189-198
    • Folstein, M.F.1    Folstein, S.E.2    McHugh, P.R.3
  • 18
    • 0026453127 scopus 로고
    • Fibril formation by primate, rodent, and Dutch-hemorrhagic analogues of Alzheimer amyloid beta-protein
    • Fraser PE, Nguyen JT, Inouye H, Surewicz WK, Selkoe DJ, Podlisny MB, et al. Fibril formation by primate, rodent, and Dutch-hemorrhagic analogues of Alzheimer amyloid beta-protein. Biochemistry 1992; 31: 10716-23.
    • (1992) Biochemistry , vol.31 , pp. 10716-10723
    • Fraser, P.E.1    Nguyen, J.T.2    Inouye, H.3    Surewicz, W.K.4    Selkoe, D.J.5    Podlisny, M.B.6
  • 21
    • 0034982951 scopus 로고    scopus 로고
    • Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy
    • Grabowski TJ, Cho HS, Vonsattel JP, Rebeck GW, Greenberg SM. Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. Ann Neurol 2001; 49: 697-705.
    • (2001) Ann Neurol , vol.49 , pp. 697-705
    • Grabowski, T.J.1    Cho, H.S.2    Vonsattel, J.P.3    Rebeck, G.W.4    Greenberg, S.M.5
  • 22
    • 0031751312 scopus 로고    scopus 로고
    • Cerebral amyloid angiopathy: Prospects for clinical diagnosis and treatment
    • Greenberg SM. Cerebral amyloid angiopathy: prospects for clinical diagnosis and treatment. Neurology 1998; 51: 690-4.
    • (1998) Neurology , vol.51 , pp. 690-694
    • Greenberg, S.M.1
  • 25
    • 45749146772 scopus 로고
    • Genuine memory deficits in dementia
    • Grober E, Buschke H. Genuine memory deficits in dementia. Dev Neuropsychol 1987: 13-36.
    • (1987) Dev Neuropsychol , pp. 13-36
    • Grober, E.1    Buschke, H.2
  • 27
    • 0026879650 scopus 로고
    • Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene
    • Hendriks L, van Duijn CM, Cras P, Cruts M, Van Hul W, van Harskamp F, et al. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nat Genet 1992; 1: 218-21.
    • (1992) Nat Genet , vol.1 , pp. 218-221
    • Hendriks, L.1    Van Duijn, C.M.2    Cras, P.3    Cruts, M.4    Van Hul, W.5    Van Harskamp, F.6
  • 28
    • 4344648449 scopus 로고    scopus 로고
    • Abeta is targeted to the vasculature in a mouse model of hereditary cerebral hemorrhage with amyloidosis
    • Herzig MC, Winkler DT, Burgermeister P, Pfeifer M, Kohler E, Schmidt SD, et al. Abeta is targeted to the vasculature in a mouse model of hereditary cerebral hemorrhage with amyloidosis. Nat Neurosci 2004; 7: 954-60.
    • (2004) Nat Neurosci , vol.7 , pp. 954-960
    • Herzig, M.C.1    Winkler, D.T.2    Burgermeister, P.3    Pfeifer, M.4    Kohler, E.5    Schmidt, S.D.6
  • 29
    • 0028919919 scopus 로고
    • Amyloid beta protein (A beta) deposition: A beta 42(43) precedes a beta 40 in Down syndrome
    • Iwatsubo T, Mann DM, Odaka A, Suzuki N, Ihara Y. Amyloid beta protein (A beta) deposition: A beta 42(43) precedes A beta 40 in Down syndrome. Ann Neurol 1995; 37: 294-9.
    • (1995) Ann Neurol , vol.37 , pp. 294-299
    • Iwatsubo, T.1    Mann, D.M.2    Odaka, A.3    Suzuki, N.4    Ihara, Y.5
  • 31
    • 0036323445 scopus 로고    scopus 로고
    • Alzheimer disease and cerebrovascular pathology: An update
    • Jellinger KA. Alzheimer disease and cerebrovascular pathology: an update. J Neural Transm 2002; 109: 813-36.
    • (2002) J Neural Transm , vol.109 , pp. 813-836
    • Jellinger, K.A.1
  • 32
    • 0024370171 scopus 로고
    • A prospective study of Alzheimer disease in Down syndrome
    • Lai F, Williams RS. A prospective study of Alzheimer disease in Down syndrome. Arch Neurol 1989; 46: 849-53.
    • (1989) Arch Neurol , vol.46 , pp. 849-853
    • Lai, F.1    Williams, R.S.2
  • 34
    • 0030007964 scopus 로고    scopus 로고
    • Sequence of deposition of heterogeneous amyloid beta-peptides and APO E in Down syndrome: Implications for initial events in amyloid plaque formation
    • Lemere CA, Blusztajn JK, Yamaguchi H, Wisniewski T, Saido TC, Selkoe DJ. Sequence of deposition of heterogeneous amyloid beta-peptides and APO E in Down syndrome: implications for initial events in amyloid plaque formation. Neurobiol Dis 1996; 3: 16-32.
    • (1996) Neurobiol Dis , vol.3 , pp. 16-32
    • Lemere, C.A.1    Blusztajn, J.K.2    Yamaguchi, H.3    Wisniewski, T.4    Saido, T.C.5    Selkoe, D.J.6
  • 36
    • 33644819758 scopus 로고    scopus 로고
    • Hereditary cerebral hemorrhage with amyloidosis-Dutch type
    • Maat-Schieman M, Roos R, van Duinen S. Hereditary cerebral hemorrhage with amyloidosis-Dutch type. Neuropathology 2005; 25: 288-97.
    • (2005) Neuropathology , vol.25 , pp. 288-297
    • Maat-Schieman, M.1    Roos, R.2    Van Duinen, S.3
  • 37
    • 0034975365 scopus 로고    scopus 로고
    • Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease
    • Mann DM, Pickering-Brown SM, Takeuchi A, Iwatsubo T. Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease. Am J Pathol 2001; 158: 2165-75.
    • (2001) Am J Pathol , vol.158 , pp. 2165-2175
    • Mann, D.M.1    Pickering-Brown, S.M.2    Takeuchi, A.3    Iwatsubo, T.4
  • 38
    • 0032496080 scopus 로고    scopus 로고
    • High frequency of apolipoprotein E epsilon 2 allele is specific for patients with cerebral amyloid angiopathy-related haemorrhage
    • McCarron MO, Nicoll JA. High frequency of apolipoprotein E epsilon 2 allele is specific for patients with cerebral amyloid angiopathy-related haemorrhage. Neurosci Lett 1998; 247: 45-8.
    • (1998) Neurosci Lett , vol.247 , pp. 45-48
    • McCarron, M.O.1    Nicoll, J.A.2
  • 39
    • 11144299156 scopus 로고    scopus 로고
    • Prevalence of epilepsy in adults with mental retardation and related disabilities in primary care
    • McDermott S, Moran R, Platt T, Wood H, Isaac T, Dasari S. Prevalence of epilepsy in adults with mental retardation and related disabilities in primary care. Am J Ment Retard 2005; 110: 48-56.
    • (2005) Am J Ment Retard , vol.110 , pp. 48-56
    • McDermott, S.1    Moran, R.2    Platt, T.3    Wood, H.4    Isaac, T.5    Dasari, S.6
  • 40
    • 22544482926 scopus 로고    scopus 로고
    • Abeta42 is essential for parenchymal and vascular amyloid deposition in mice
    • McGowan E, Pickford F, Kim J, Onstead L, Eriksen J, Yu C, et al. Abeta42 is essential for parenchymal and vascular amyloid deposition in mice. Neuron 2005; 47: 191-9.
    • (2005) Neuron , vol.47 , pp. 191-199
    • McGowan, E.1    Pickford, F.2    Kim, J.3    Onstead, L.4    Eriksen, J.5    Yu, C.6
  • 41
    • 0028348951 scopus 로고
    • Prevalence and associated features of epilepsy in adults with Down's syndrome
    • McVicker RW, Shanks OE, McClelland RJ. Prevalence and associated features of epilepsy in adults with Down's syndrome. Br J Psychiatry 1994; 164: 528-32.
    • (1994) Br J Psychiatry , vol.164 , pp. 528-532
    • McVicker, R.W.1    Shanks, O.E.2    McClelland, R.J.3
  • 42
    • 18044364799 scopus 로고    scopus 로고
    • Down syndrome, Alzheimer's disease and seizures
    • Menendez M. Down syndrome, Alzheimer's disease and seizures. Brain Dev 2005; 27: 246-52.
    • (2005) Brain Dev , vol.27 , pp. 246-252
    • Menendez, M.1
  • 43
    • 0034282630 scopus 로고    scopus 로고
    • Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells
    • Miravalle L, Tokuda T, Chiarle R, Giaccone G, Bugiani O, Tagliavini F, et al. Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells. J Biol Chem 2000; 275: 27110-6.
    • (2000) J Biol Chem , vol.275 , pp. 27110-27116
    • Miravalle, L.1    Tokuda, T.2    Chiarle, R.3    Giaccone, G.4    Bugiani, O.5    Tagliavini, F.6
  • 44
    • 0025908356 scopus 로고
    • The consortium to establish a registry for Alzheimer's disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease
    • Mirra SS, Heyman A, McKeel D, Sumi SM, Crain BJ, Brownlee LM, et al. The consortium to establish a registry for Alzheimer's disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology 1991; 41: 479-86.
    • (1991) Neurology , vol.41 , pp. 479-486
    • Mirra, S.S.1    Heyman, A.2    McKeel, D.3    Sumi, S.M.4    Crain, B.J.5    Brownlee, L.M.6
  • 46
    • 0031927532 scopus 로고    scopus 로고
    • Microvasculopathy is associated with the number of cerebrovascular lesions in hereditary cerebral hemorrhage with amyloidosis, Dutch type
    • Natte R, Vinters HV, Maat-Schieman ML, Bornebroek M, Haan J, Roos RA, et al. Microvasculopathy is associated with the number of cerebrovascular lesions in hereditary cerebral hemorrhage with amyloidosis, Dutch type. Stroke 1998; 29: 1588-94.
    • (1998) Stroke , vol.29 , pp. 1588-1594
    • Natte, R.1    Vinters, H.V.2    Maat-Schieman, M.L.3    Bornebroek, M.4    Haan, J.5    Roos, R.A.6
  • 47
    • 0030610591 scopus 로고    scopus 로고
    • High frequency of apolipoprotein E epsilon 2 allele in hemorrhage due to cerebral amyloid angiopathy
    • Nicoll JA, Burnett C, Love S, Graham DI, Dewar D, Ironside JW, et al. High frequency of apolipoprotein E epsilon 2 allele in hemorrhage due to cerebral amyloid angiopathy. Ann Neurol 1997; 41: 716-21.
    • (1997) Ann Neurol , vol.41 , pp. 716-721
    • Nicoll, J.A.1    Burnett, C.2    Love, S.3    Graham, D.I.4    Dewar, D.5    Ironside, J.W.6
  • 49
    • 0031941389 scopus 로고    scopus 로고
    • Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I)
    • Nochlin D, Bird TD, Nemens EJ, Ball MJ, Sumi SM. Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I). Ann Neurol 1998; 43: 131-5.
    • (1998) Ann Neurol , vol.43 , pp. 131-135
    • Nochlin, D.1    Bird, T.D.2    Nemens, E.J.3    Ball, M.J.4    Sumi, S.M.5
  • 50
    • 0037044295 scopus 로고    scopus 로고
    • Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities
    • O'Riordan S, McMonagle P, Janssen JC, Fox NC, Farrell M, Collinge J, et al. Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. Neurology 2002; 59: 1108-10.
    • (2002) Neurology , vol.59 , pp. 1108-1110
    • O'Riordan, S.1    McMonagle, P.2    Janssen, J.C.3    Fox, N.C.4    Farrell, M.5    Collinge, J.6
  • 51
    • 25444432529 scopus 로고    scopus 로고
    • A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy
    • Obici L, Demarchi A, de Rosa G, Bellotti V, Marciano S, Donadei S, et al. A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy. Ann Neurol 2005; 58: 639-44.
    • (2005) Ann Neurol , vol.58 , pp. 639-644
    • Obici, L.1    Demarchi, A.2    De Rosa, G.3    Bellotti, V.4    Marciano, S.5    Donadei, S.6
  • 52
    • 0028055038 scopus 로고
    • Down's syndrome: Up-regulation of beta-amyloid protein precursor and tau mRNAs and their defective coordination
    • Oyama F, Cairns NJ, Shimada H, Oyama R, Titani K, Ihara Y. Down's syndrome: up-regulation of beta-amyloid protein precursor and tau mRNAs and their defective coordination. J Neurochem 1994; 62: 1062-6.
    • (1994) J Neurochem , vol.62 , pp. 1062-1066
    • Oyama, F.1    Cairns, N.J.2    Shimada, H.3    Oyama, R.4    Titani, K.5    Ihara, Y.6
  • 54
    • 0037062566 scopus 로고    scopus 로고
    • Cerebral amyloid angiopathy and cognitive function: The HAAS autopsy study
    • Pfeifer LA, White LR, Ross GW, Petrovitch H, Launer LJ. Cerebral amyloid angiopathy and cognitive function: the HAAS autopsy study. Neurology 2002; 58: 1629-34.
    • (2002) Neurology , vol.58 , pp. 1629-1634
    • Pfeifer, L.A.1    White, L.R.2    Ross, G.W.3    Petrovitch, H.4    Launer, L.J.5
  • 57
    • 0033774379 scopus 로고    scopus 로고
    • Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692)
    • Roks G, Van Harskamp F, De Koning I, Cruts M, De Jonghe C, Kumar-Singh S, et al. Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692). Brain 2000; 123: 2130-40.
    • (2000) Brain , vol.123 , pp. 2130-2140
    • Roks, G.1    Van Harskamp, F.2    De Koning, I.3    Cruts, M.4    De Jonghe, C.5    Kumar-Singh, S.6
  • 58
    • 0027534657 scopus 로고
    • Vascular dementia: Diagnostic criteria for research studies. Report of the NINDS-AIREN International Workshop
    • Roman GC, Tatemichi TK, Erkinjuntti T, Cummings JL, Masdeu JC, Garcia JH, et al. Vascular dementia: diagnostic criteria for research studies. Report of the NINDS-AIREN International Workshop. Neurology 1993; 43: 250-60.
    • (1993) Neurology , vol.43 , pp. 250-260
    • Roman, G.C.1    Tatemichi, T.K.2    Erkinjuntti, T.3    Cummings, J.L.4    Masdeu, J.C.5    Garcia, J.H.6
  • 59
    • 4644348172 scopus 로고    scopus 로고
    • A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene
    • Rossi G, Giaccone G, Maletta R, Morbin M, Capobianco R, Mangieri M, et al. A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. Neurology 2004; 63: 910-2.
    • (2004) Neurology , vol.63 , pp. 910-912
    • Rossi, G.1    Giaccone, G.2    Maletta, R.3    Morbin, M.4    Capobianco, R.5    Mangieri, M.6
  • 60
    • 29444442794 scopus 로고    scopus 로고
    • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
    • Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerriere A, Vital A, et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006; 38: 24-6.
    • (2006) Nat Genet , vol.38 , pp. 24-26
    • Rovelet-Lecrux, A.1    Hannequin, D.2    Raux, G.3    Le Meur, N.4    Laquerriere, A.5    Vital, A.6
  • 61
    • 0028245781 scopus 로고
    • The Mattis Dementia Rating Scale: Normative data from 1,001 healthy volunteers
    • Schmidt R, Freidl W, Fazekas F, Reinhart B, Grieshofer P, Koch M, et al. The Mattis Dementia Rating Scale: normative data from 1,001 healthy volunteers. Neurology 1994; 44: 964-6.
    • (1994) Neurology , vol.44 , pp. 964-966
    • Schmidt, R.1    Freidl, W.2    Fazekas, F.3    Reinhart, B.4    Grieshofer, P.5    Koch, M.6
  • 62
    • 18244388693 scopus 로고    scopus 로고
    • Abnormal APP, cholinergic and cognitive function in Ts65Dn Down's model mice
    • Seo H, Isacson O. Abnormal APP, cholinergic and cognitive function in Ts65Dn Down's model mice. Exp Neurol 2005; 193: 469-80.
    • (2005) Exp Neurol , vol.193 , pp. 469-480
    • Seo, H.1    Isacson, O.2
  • 63
    • 0032242176 scopus 로고    scopus 로고
    • Life expectancy of persons with chronic disabilities
    • Strauss D, Shavelle R. Life expectancy of persons with chronic disabilities. J Insur Med 1998; 30: 96-108.
    • (1998) J Insur Med , vol.30 , pp. 96-108
    • Strauss, D.1    Shavelle, R.2
  • 64
    • 0036827031 scopus 로고    scopus 로고
    • Intraneuronal Alzheimer abeta42 accumulates in multivesicular bodies and is associated with synaptic pathology
    • Takahashi RH, Milner TA, Li F, Nam EE, Edgar MA, Yamaguchi H, et al. Intraneuronal Alzheimer abeta42 accumulates in multivesicular bodies and is associated with synaptic pathology. Am J Pathol 2002; 161: 1869-79.
    • (2002) Am J Pathol , vol.161 , pp. 1869-1879
    • Takahashi, R.H.1    Milner, T.A.2    Li, F.3    Nam, E.E.4    Edgar, M.A.5    Yamaguchi, H.6
  • 65
    • 0032770318 scopus 로고    scopus 로고
    • Down syndrome in a population of elderly mentally retarded patients: Genetic-diagnostic survey and implications for medical care
    • Van Buggenhout GJ, Trommelen JC, Schoenmaker A, De Bal C, Verbeek JJ, Smeets DF, et al. Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care. Am J Med Genet 1999; 85: 376-84.
    • (1999) Am J Med Genet , vol.85 , pp. 376-384
    • Van Buggenhout, G.J.1    Trommelen, J.C.2    Schoenmaker, A.3    De Bal, C.4    Verbeek, J.J.5    Smeets, D.F.6
  • 67
    • 0034646249 scopus 로고    scopus 로고
    • Variant Alzheimer's disease with spastic paraparesis: Clinical characterization
    • Verkkoniemi A, Somer M, Rinne JO, Myllykangas L, Crook R, Hardy J, et al. Variant Alzheimer's disease with spastic paraparesis: clinical characterization. Neurology 2000; 54: 1103-9.
    • (2000) Neurology , vol.54 , pp. 1103-1109
    • Verkkoniemi, A.1    Somer, M.2    Rinne, J.O.3    Myllykangas, L.4    Crook, R.5    Hardy, J.6
  • 68
    • 0031039294 scopus 로고    scopus 로고
    • Prospective study of the prevalence of Alzheimer-type dementia in institutionalized individuals with Down syndrome
    • Visser FE, Aldenkamp AP, van Huffelen AC, Kuilman M, Overweg J, van Wijk J. Prospective study of the prevalence of Alzheimer-type dementia in institutionalized individuals with Down syndrome. Am J Ment Retard 1997; 101: 400-12.
    • (1997) Am J Ment Retard , vol.101 , pp. 400-412
    • Visser, F.E.1    Aldenkamp, A.P.2    Van Huffelen, A.C.3    Kuilman, M.4    Overweg, J.5    Van Wijk, J.6
  • 70
    • 0034986196 scopus 로고    scopus 로고
    • A new rating scale for age-related white matter changes applicable to MRI and CT
    • Wahlund LO, Barkhof F, Fazekas F, Bronge L, Augustin M, Sjogren M, et al. A new rating scale for age-related white matter changes applicable to MRI and CT. Stroke 2001; 32: 1318-22.
    • (2001) Stroke , vol.32 , pp. 1318-1322
    • Wahlund, L.O.1    Barkhof, F.2    Fazekas, F.3    Bronge, L.4    Augustin, M.5    Sjogren, M.6
  • 71
    • 0035339688 scopus 로고    scopus 로고
    • In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692→Gly) Alzheimer's disease
    • Walsh DM, Hartley DM, Condron MM, Selkoe DJ, Teplow DB. In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692→Gly) Alzheimer's disease. Biochem J 2001; 355: 869-77.
    • (2001) Biochem J , vol.355 , pp. 869-877
    • Walsh, D.M.1    Hartley, D.M.2    Condron, M.M.3    Selkoe, D.J.4    Teplow, D.B.5
  • 72
    • 0033564290 scopus 로고    scopus 로고
    • Effects of the amyloid precursor protein Glu693→Gln 'Dutch' mutation on the production and stability of amyloid beta-protein
    • Watson DJ, Selkoe DJ, Teplow DB. Effects of the amyloid precursor protein Glu693→Gln 'Dutch' mutation on the production and stability of amyloid beta-protein. Biochem J 1999; 340: 703-9.
    • (1999) Biochem J , vol.340 , pp. 703-709
    • Watson, D.J.1    Selkoe, D.J.2    Teplow, D.B.3
  • 74
    • 0037160991 scopus 로고    scopus 로고
    • Mortality associated with Down's syndrome in the USA from 1983 to 1997: A population-based study
    • Yang Q, Rasmussen SA, Friedman JM. Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study. Lancet 2002; 359: 1019-25.
    • (2002) Lancet , vol.359 , pp. 1019-1025
    • Yang, Q.1    Rasmussen, S.A.2    Friedman, J.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.