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Volumn 165, Issue 3, 2009, Pages 223-231

Alzheimer disease: Autosomal dominant forms;Génétique de la maladie d'Alzheimer : Formes autosomiques dominantes

Author keywords

Alzheimer disease; Cerebral amyloid angiopathy; PSEN 1 and PSEN2, APP

Indexed keywords

AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E4; PRESENILIN 1; PRESENILIN 2; PSEN1 PROTEIN, HUMAN; PSEN2 PROTEIN, HUMAN;

EID: 65449149436     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurol.2008.10.019     Document Type: Review
Times cited : (8)

References (101)
  • 2
  • 3
    • 7744233995 scopus 로고    scopus 로고
    • A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis
    • S. Ataka, T. Tomiyama, H. Takuma, T. Yamashita, H. Shimada, and T. Tsutada A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis Arch Neurol 61 2004 1773 1776
    • (2004) Arch Neurol , vol.61 , pp. 1773-1776
    • Ataka, S.1    Tomiyama, T.2    Takuma, H.3    Yamashita, T.4    Shimada, H.5    Tsutada, T.6
  • 4
    • 3343005434 scopus 로고    scopus 로고
    • PS1 activates PI3K thus inhibiting GSK-3 activity and tau overphosphorylation: Effects of FAD mutations
    • L. Baki, J. Shioi, P. Wen, Z. Shao, A. Schwarzman, and M. Gama-Sosa PS1 activates PI3K thus inhibiting GSK-3 activity and tau overphosphorylation: effects of FAD mutations EMBO J 23 2004 2586 2596
    • (2004) EMBO J , vol.23 , pp. 2586-2596
    • Baki, L.1    Shioi, J.2    Wen, P.3    Shao, Z.4    Schwarzman, A.5    Gama-Sosa, M.6
  • 5
    • 0031108103 scopus 로고    scopus 로고
    • Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing
    • R. Baumeister, U. Leimer, I. Zweckbronner, C. Jakubek, J. Grunberg, and C. Haass Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing Genes Funct 1 1997 149 159
    • (1997) Genes Funct , vol.1 , pp. 149-159
    • Baumeister, R.1    Leimer, U.2    Zweckbronner, I.3    Jakubek, C.4    Grunberg, J.5    Haass, C.6
  • 6
    • 33645105621 scopus 로고    scopus 로고
    • Presenilin clinical mutations can affect gamma-secretase activity by different mechanisms
    • M. Bentahir, O. Nyabi, J. Verhamme, A. Tolia, K. Horre, and J. Wiltfang Presenilin clinical mutations can affect gamma-secretase activity by different mechanisms J Neurochem 96 2006 732 742
    • (2006) J Neurochem , vol.96 , pp. 732-742
    • Bentahir, M.1    Nyabi, O.2    Verhamme, J.3    Tolia, A.4    Horre, K.5    Wiltfang, J.6
  • 7
    • 33750576831 scopus 로고    scopus 로고
    • Frontotemporal dementia and parkinsonism associated with the IVS1>A mutation in progranulin: A clinicopathologic study
    • B.F. Boeve, M. Baker, D.W. Dickson, J.E. Parisi, C. Giannini, and K.A. Josephs Frontotemporal dementia and parkinsonism associated with the IVS1>A mutation in progranulin: a clinicopathologic study Brain 129 2006 3103 3114
    • (2006) Brain , vol.129 , pp. 3103-3114
    • Boeve, B.F.1    Baker, M.2    Dickson, D.W.3    Parisi, J.E.4    Giannini, C.5    Josephs, K.A.6
  • 8
    • 0030293676 scopus 로고    scopus 로고
    • Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo
    • D.R. Borchelt, G. Thinakaran, C.B. Eckman, M.K. Lee, F. Davenport, and T. Ratovitsky Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo Neuron 17 1996 1005 1013
    • (1996) Neuron , vol.17 , pp. 1005-1013
    • Borchelt, D.R.1    Thinakaran, G.2    Eckman, C.B.3    Lee, M.K.4    Davenport, F.5    Ratovitsky, T.6
  • 9
    • 0037379350 scopus 로고    scopus 로고
    • Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: Two pedigrees with PS-1 exon 9 deletions
    • W.S. Brooks, J.B. Kwok, J.J. Kril, G.A. Broe, P.C. Blumbergs, and A.E. Tannenberg Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions Brain 126 2003 783 791
    • (2003) Brain , vol.126 , pp. 783-791
    • Brooks, W.S.1    Kwok, J.B.2    Kril, J.J.3    Broe, G.A.4    Blumbergs, P.C.5    Tannenberg, A.E.6
  • 11
    • 0028816454 scopus 로고
    • A large pedigree with early-onset Alzheimer's disease: Clinical, neuropathologic, and genetic characterization
    • D. Campion, A. Brice, D. Hannequin, S. Tardieu, B. Dubois, and A. Calenda A large pedigree with early-onset Alzheimer's disease: clinical, neuropathologic, and genetic characterization Neurology 45 1995 80 85
    • (1995) Neurology , vol.45 , pp. 80-85
    • Campion, D.1    Brice, A.2    Hannequin, D.3    Tardieu, S.4    Dubois, B.5    Calenda, A.6
  • 12
    • 0033358671 scopus 로고    scopus 로고
    • Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum
    • D. Campion, C. Dumanchin, D. Hannequin, B. Dubois, S. Belliard, and M. Puel Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum Am J Hum Genet 65 1999 664 670
    • (1999) Am J Hum Genet , vol.65 , pp. 664-670
    • Campion, D.1    Dumanchin, C.2    Hannequin, D.3    Dubois, B.4    Belliard, S.5    Puel, M.6
  • 13
    • 4644319713 scopus 로고    scopus 로고
    • Abeta localization in abnormal endosomes: Association with earliest Abeta elevations in AD and Down syndrome
    • A.M. Cataldo, S. Petanceska, N.B. Terio, C.M. Peterhoff, R. Durham, and M. Mercken Abeta localization in abnormal endosomes: association with earliest Abeta elevations in AD and Down syndrome Neurobiol Aging 25 2004 1263 1272
    • (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
  • 14
    • 0031949628 scopus 로고    scopus 로고
    • A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1
    • R. Crook, A. Verkkoniemi, J. Perez-Tur, N. Mehta, M. Baker, and H. Houlden A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1 Nat Med 4 1998 452 455
    • (1998) Nat Med , vol.4 , pp. 452-455
    • Crook, R.1    Verkkoniemi, A.2    Perez-Tur, J.3    Mehta, N.4    Baker, M.5    Houlden, H.6
  • 15
    • 0037200117 scopus 로고    scopus 로고
    • Oligomeric and fibrillar species of amyloid-beta peptides differentially affect neuronal viability
    • K.N. Dahlgren, A.M. Manelli, W.B. Stine Jr., L.K. Baker, G.A. Krafft, and M.J. LaDu Oligomeric and fibrillar species of amyloid-beta peptides differentially affect neuronal viability J Biol Chem 277 2002 32046 32053
    • (2002) J Biol Chem , vol.277 , pp. 32046-32053
    • Dahlgren, K.N.1    Manelli, A.M.2    Stine Jr., W.B.3    Baker, L.K.4    Krafft, G.A.5    Ladu, M.J.6
  • 16
    • 33947201115 scopus 로고    scopus 로고
    • Loss-of-function presenilin mutations in Alzheimer disease
    • B. De Strooper Loss-of-function presenilin mutations in Alzheimer disease EMBO Rep 8 2007 141 146
    • (2007) EMBO Rep , vol.8 , pp. 141-146
    • De Strooper, B.1
  • 17
    • 0035207883 scopus 로고    scopus 로고
    • Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation
    • B. Dermaut, S. Kumar-Singh, C. De Jonghe, M. Cruts, A. Lofgren, and U. Lubke Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation Brain 124 2001 2383 2392
    • (2001) Brain , vol.124 , pp. 2383-2392
    • Dermaut, B.1    Kumar-Singh, S.2    De Jonghe, C.3    Cruts, M.4    Lofgren, A.5    Lubke, U.6
  • 19
    • 0031908627 scopus 로고    scopus 로고
    • Intracerebral hemorrhage in two patients with Down's syndrome and cerebral amyloid angiopathy
    • J.E. Donahue, J.S. Khurana, and L.S. Adelman Intracerebral hemorrhage in two patients with Down's syndrome and cerebral amyloid angiopathy Acta Neuropathol (Berl) 95 1998 213 216
    • (1998) Acta Neuropathol (Berl) , vol.95 , pp. 213-216
    • Donahue, J.E.1    Khurana, J.S.2    Adelman, L.S.3
  • 20
    • 33749136842 scopus 로고    scopus 로고
    • Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques
    • C. Dumanchin, I. Tournier, C. Martin, M. Didic, S. Belliard, and B. Carlander Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques Hum Mutat 27 2006 1063
    • (2006) Hum Mutat , vol.27 , pp. 1063
    • Dumanchin, C.1    Tournier, I.2    Martin, C.3    Didic, M.4    Belliard, S.5    Carlander, B.6
  • 21
    • 33749357727 scopus 로고    scopus 로고
    • Nosology of dementias: The neuropathologist's point of view
    • C. Duyckaerts Nosology of dementias: the neuropathologist's point of view Rev Neurol (Paris) 162 2006 921 928
    • (2006) Rev Neurol (Paris) , vol.162 , pp. 921-928
    • Duyckaerts, C.1
  • 22
    • 0034705011 scopus 로고    scopus 로고
    • Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I
    • U. Finckh, A. Alberici, M. Antoniazzi, L. Benussi, V. Fedi, and C. Giannini Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I Neurology 54 2000 2006 2008
    • (2000) Neurology , vol.54 , pp. 2006-2008
    • Finckh, U.1    Alberici, A.2    Antoniazzi, M.3    Benussi, L.4    Fedi, V.5    Giannini, C.6
  • 27
    • 0034745017 scopus 로고    scopus 로고
    • Intraneuronal abeta-amyloid precedes development of amyloid plaques in Down syndrome
    • K.A. Gyure, R. Durham, W.F. Stewart, J.E. Smialek, and J.C. Troncoso Intraneuronal abeta-amyloid precedes development of amyloid plaques in Down syndrome Arch Pathol Lab Med 125 2001 489 492
    • (2001) Arch Pathol Lab Med , vol.125 , pp. 489-492
    • Gyure, K.A.1    Durham, R.2    Stewart, W.F.3    Smialek, J.E.4    Troncoso, J.C.5
  • 28
    • 0030950055 scopus 로고    scopus 로고
    • Further evidence for an association between a mutation in the APP gene and Lewy body formation
    • G. Halliday, W. Brooks, H. Arthur, H. Creasey, and G.A. Broe Further evidence for an association between a mutation in the APP gene and Lewy body formation Neurosci Lett 227 1997 49 52
    • (1997) Neurosci Lett , vol.227 , pp. 49-52
    • Halliday, G.1    Brooks, W.2    Arthur, H.3    Creasey, H.4    Broe, G.A.5
  • 30
    • 0034973067 scopus 로고    scopus 로고
    • Les formes autosomiques dominantes de la maladie d'Alzheimer: Du genotype au phénotype
    • D. Hannequin, and D. Campion Les formes autosomiques dominantes de la maladie d'Alzheimer: du genotype au phénotype Rev Neurol (Paris) 157 2001 384 392
    • (2001) Rev Neurol (Paris) , vol.157 , pp. 384-392
    • Hannequin, D.1    Campion, D.2
  • 31
    • 4544255470 scopus 로고    scopus 로고
    • A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis
    • S. Hattori, K. Sakuma, Y. Wakutani, K. Wada, M. Shimoda, and K. Urakami A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis Neurosci Lett 368 2004 319 322
    • (2004) Neurosci Lett , vol.368 , pp. 319-322
    • Hattori, S.1    Sakuma, K.2    Wakutani, Y.3    Wada, K.4    Shimoda, M.5    Urakami, K.6
  • 32
    • 0034076439 scopus 로고    scopus 로고
    • Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: An Alu core sequence-stimulated recombination?
    • M. Hiltunen, S. Helisalmi, A. Mannermaa, I. Alafuzoff, A.M. Koivisto, and M. Lehtovirta Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination? Eur J Hum Genet 8 2000 259 266
    • (2000) Eur J Hum Genet , vol.8 , pp. 259-266
    • Hiltunen, M.1    Helisalmi, S.2    Mannermaa, A.3    Alafuzoff, I.4    Koivisto, A.M.5    Lehtovirta, M.6
  • 33
    • 0033762710 scopus 로고    scopus 로고
    • Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations
    • H. Houlden, M. Baker, E. McGowan, P. Lewis, M. Hutton, and R. Crook Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations Ann Neurol 48 2000 806 808
    • (2000) Ann Neurol , vol.48 , pp. 806-808
    • Houlden, H.1    Baker, M.2    McGowan, E.3    Lewis, P.4    Hutton, M.5    Crook, R.6
  • 34
    • 0034642196 scopus 로고    scopus 로고
    • Familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, dementia, and external carotid dysplasia
    • S. Iglesias, F. Chapon, and J.C. Baron Familial occipital calcifications, hemorrhagic strokes, leukoencephalopathy, dementia, and external carotid dysplasia Neurology 55 2000 1661 1667
    • (2000) Neurology , vol.55 , pp. 1661-1667
    • Iglesias, S.1    Chapon, F.2    Baron, J.C.3
  • 35
    • 0028169925 scopus 로고
    • Visualization of A beta 42(43) and A beta 40 in senile plaques with end-specific A beta monoclonals: Evidence that an initially deposited species is A beta 42(43)
    • T. Iwatsubo, A. Odaka, N. Suzuki, H. Mizusawa, N. Nukina, and Y. Ihara Visualization of A beta 42(43) and A beta 40 in senile plaques with end-specific A beta monoclonals: evidence that an initially deposited species is A beta 42(43) Neuron 13 1994 45 53
    • (1994) Neuron , vol.13 , pp. 45-53
    • Iwatsubo, T.1    Odaka, A.2    Suzuki, N.3    Mizusawa, H.4    Nukina, N.5    Ihara, Y.6
  • 36
    • 0027195933 scopus 로고
    • Seeding "one-dimensional crystallization" of amyloid: A pathogenic mechanism in Alzheimer's disease and scrapie?
    • J.T. Jarrett, and P.T. Lansburry Seeding "one-dimensional crystallization" of amyloid: a pathogenic mechanism in Alzheimer's disease and scrapie? Cell 73 1993 1055 1058
    • (1993) Cell , vol.73 , pp. 1055-1058
    • Jarrett, J.T.1    Lansburry, P.T.2
  • 37
    • 6344248662 scopus 로고    scopus 로고
    • New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism
    • A. Jimenez-Escrig, A. Rabano, C. Guerrero, J. Simon, M.S. Barquero, and I. Guell New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism Eur J Neurol 11 2004 663 669
    • (2004) Eur J Neurol , vol.11 , pp. 663-669
    • Jimenez-Escrig, A.1    Rabano, A.2    Guerrero, C.3    Simon, J.4    Barquero, M.S.5    Guell, I.6
  • 39
    • 34249984684 scopus 로고    scopus 로고
    • Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees
    • W.E. Klunk, J.C. Price, C.A. Mathis, N.D. Tsopelas, B.J. Lopresti, and S.K. Ziolko Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees J Neurosci 27 2007 6174 6184
    • (2007) J Neurosci , vol.27 , pp. 6174-6184
    • Klunk, W.E.1    Price, J.C.2    Mathis, C.A.3    Tsopelas, N.D.4    Lopresti, B.J.5    Ziolko, S.K.6
  • 40
    • 33745700370 scopus 로고    scopus 로고
    • Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40
    • S. Kumar-Singh, J. Theuns, B. Van Broeck, D. Pirici, K. Vennekens, and E. Corsmit Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40 Hum Mutat 27 2006 686 695
    • (2006) Hum Mutat , vol.27 , pp. 686-695
    • Kumar-Singh, S.1    Theuns, J.2    Van Broeck, B.3    Pirici, D.4    Vennekens, K.5    Corsmit, E.6
  • 41
    • 8244260610 scopus 로고    scopus 로고
    • Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype
    • J.B. Kwok, K. Taddei, M. Hallupp, C. Fisher, W.S. Brooks, and G.A. Broe Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype Neuroreport 8 1997 1537 1542
    • (1997) Neuroreport , vol.8 , pp. 1537-1542
    • Kwok, J.B.1    Taddei, K.2    Hallupp, M.3    Fisher, C.4    Brooks, W.S.5    Broe, G.A.6
  • 42
    • 0024370171 scopus 로고
    • A prospective study of Alzheimer disease in Down syndrome
    • F. Lai, and R.S. Williams A prospective study of Alzheimer disease in Down syndrome Arch Neurol 46 1989 849 853
    • (1989) Arch Neurol , vol.46 , pp. 849-853
    • Lai, F.1    Williams, R.S.2
  • 43
    • 0037590902 scopus 로고    scopus 로고
    • Presenilin-1 and presenilin-2 exhibit distinct yet overlapping gamma-secretase activities
    • M.T. Lai, E. Chen, M.C. Crouthamel, J. DiMuzio-Mower, M. Xu, and Q. Huang Presenilin-1 and presenilin-2 exhibit distinct yet overlapping gamma-secretase activities J Biol Chem 278 2003 22475 22481
    • (2003) J Biol Chem , vol.278 , pp. 22475-22481
    • Lai, M.T.1    Chen, E.2    Crouthamel, M.C.3    Dimuzio-Mower, J.4    Xu, M.5    Huang, Q.6
  • 45
    • 0028364691 scopus 로고
    • Lewy bodies in the brain of two members of a family with the 717 (Val to Ile) mutation of the amyloid precursor protein gene
    • P.L. Lantos, I.M. Ovenstone, J. Johnson, C.A. Clelland, P. Roques, and M.N. Rossor Lewy bodies in the brain of two members of a family with the 717 (Val to Ile) mutation of the amyloid precursor protein gene Neurosci Lett 172 1994 77 79
    • (1994) Neurosci Lett , vol.172 , pp. 77-79
    • Lantos, P.L.1    Ovenstone, I.M.2    Johnson, J.3    Clelland, C.A.4    Roques, P.5    Rossor, M.N.6
  • 46
    • 0030907583 scopus 로고    scopus 로고
    • The cerebellum in Alzheimer's disease
    • A.J. Larner The cerebellum in Alzheimer's disease Dement Geriatr Cogn Disord 8 1997 203 209
    • (1997) Dement Geriatr Cogn Disord , vol.8 , pp. 203-209
    • Larner, A.J.1
  • 47
    • 32844465332 scopus 로고    scopus 로고
    • Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene
    • A.J. Larner, and M. Doran Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene J Neurol 253 2006 139 158
    • (2006) J Neurol , vol.253 , pp. 139-158
    • Larner, A.J.1    Doran, M.2
  • 48
    • 33845984883 scopus 로고    scopus 로고
    • The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease
    • A.J. Larner, P.S. Ray, and M. Doran The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease J Neurol Sci 252 2007 173 176
    • (2007) J Neurol Sci , vol.252 , pp. 173-176
    • Larner, A.J.1    Ray, P.S.2    Doran, M.3
  • 49
    • 33644898857 scopus 로고    scopus 로고
    • Lewy body pathology in familial Alzheimer disease: Evidence for disease- and mutation-specific pathologic phenotype
    • J.B. Leverenz, M.A. Fishel, E.R. Peskind, T.J. Montine, D. Nochlin, and E. Steinbart Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype Arch Neurol 63 2006 370 376
    • (2006) Arch Neurol , vol.63 , pp. 370-376
    • Leverenz, J.B.1    Fishel, M.A.2    Peskind, E.R.3    Montine, T.J.4    Nochlin, D.5    Steinbart, E.6
  • 52
    • 18344417178 scopus 로고    scopus 로고
    • Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes
    • C.F. Lippa, H. Fujiwara, D.M. Mann, B. Giasson, M. Baba, and M.L. Schmidt Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes Am J Pathol 153 1998 1365 1370
    • (1998) Am J Pathol , vol.153 , pp. 1365-1370
    • Lippa, C.F.1    Fujiwara, H.2    Mann, D.M.3    Giasson, B.4    Baba, M.5    Schmidt, M.L.6
  • 53
    • 0032990543 scopus 로고    scopus 로고
    • Antibodies to alpha-synuclein detect Lewy bodies in many Down's syndrome brains with Alzheimer's disease
    • C.F. Lippa, M.L. Schmidt, V.M. Lee, and J.Q. Trojanowski Antibodies to alpha-synuclein detect Lewy bodies in many Down's syndrome brains with Alzheimer's disease Ann Neurol 45 1999 353 357
    • (1999) Ann Neurol , vol.45 , pp. 353-357
    • Lippa, C.F.1    Schmidt, M.L.2    Lee, V.M.3    Trojanowski, J.Q.4
  • 54
    • 33644819758 scopus 로고    scopus 로고
    • Hereditary cerebral hemorrhage with amyloidosis-Dutch type
    • M. Maat-Schieman, R. Roos, and S. van Duinen Hereditary cerebral hemorrhage with amyloidosis-Dutch type Neuropathology 25 2005 288 297
    • (2005) Neuropathology , vol.25 , pp. 288-297
    • Maat-Schieman, M.1    Roos, R.2    Van Duinen, S.3
  • 55
    • 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
    • D.M. Mann, S.M. Pickering-Brown, A. Takeuchi, and T. Iwatsubo Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease Am J Pathol 158 2001 2165 2175
    • (2001) Am J Pathol , vol.158 , pp. 2165-2175
    • Mann, D.M.1    Pickering-Brown, S.M.2    Takeuchi, A.3    Iwatsubo, T.4
  • 56
    • 33645804229 scopus 로고    scopus 로고
    • Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation
    • M.G. Marrosu, G. Floris, G. Costa, L. Schirru, G. Spinicci, and M.V. Cherchi Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation Neurology 66 2006 108 111
    • (2006) Neurology , vol.66 , pp. 108-111
    • Marrosu, M.G.1    Floris, G.2    Costa, G.3    Schirru, L.4    Spinicci, G.5    Cherchi, M.V.6
  • 58
    • 0035834076 scopus 로고    scopus 로고
    • Beta-amyloid peptides enhance alpha-synuclein accumulation and neuronal deficits in a transgenic mouse model linking Alzheimer's disease and Parkinson's disease
    • E. Masliah, E. Rockenstein, I. Veinbergs, Y. Sagara, M. Mallory, and M. Hashimoto beta-amyloid peptides enhance alpha-synuclein accumulation and neuronal deficits in a transgenic mouse model linking Alzheimer's disease and Parkinson's disease Proc Natl Acad Sci USA 98 2001 12245 12250
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 12245-12250
    • Masliah, E.1    Rockenstein, E.2    Veinbergs, I.3    Sagara, Y.4    Mallory, M.5    Hashimoto, M.6
  • 59
    • 22544482926 scopus 로고    scopus 로고
    • Abeta42 is essential for parenchymal and vascular amyloid deposition in mice
    • E. McGowan, F. Pickford, J. Kim, L. Onstead, J. Eriksen, and C. Yu Abeta42 is essential for parenchymal and vascular amyloid deposition in mice Neuron 47 2005 191 199
    • (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
  • 60
    • 0042385121 scopus 로고    scopus 로고
    • Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease
    • J. Miklossy, K. Taddei, D. Suva, G. Verdile, J. Fonte, and C. Fisher Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease Neurobiol Aging 24 2003 655 662
    • (2003) Neurobiol Aging , vol.24 , pp. 655-662
    • Miklossy, J.1    Taddei, K.2    Suva, D.3    Verdile, G.4    Fonte, J.5    Fisher, C.6
  • 61
    • 23844551164 scopus 로고    scopus 로고
    • Amino-terminally truncated Abeta peptide species are the main component of cotton wool plaques
    • L. Miravalle, M. Calero, M. Takao, A.E. Roher, B. Ghetti, and R. Vidal Amino-terminally truncated Abeta peptide species are the main component of cotton wool plaques Biochemistry 44 2005 10810 10821
    • (2005) Biochemistry , vol.44 , pp. 10810-10821
    • Miravalle, L.1    Calero, M.2    Takao, M.3    Roher, A.E.4    Ghetti, B.5    Vidal, R.6
  • 62
    • 18444391830 scopus 로고    scopus 로고
    • Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production
    • T. Moehlmann, E. Winkler, X. Xia, D. Edbauer, J. Murrell, and A. Capell Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production Proc Natl Acad Sci USA 99 2002 8025 8030
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 8025-8030
    • Moehlmann, T.1    Winkler, E.2    Xia, X.3    Edbauer, D.4    Murrell, J.5    Capell, A.6
  • 63
    • 2442667705 scopus 로고    scopus 로고
    • Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis
    • P. Moretti, A.P. Lieberman, E.A. Wilde, B.I. Giordani, K.J. Kluin, and R.A. Koeppe Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis Neurology 62 2004 1865 1868
    • (2004) Neurology , vol.62 , pp. 1865-1868
    • Moretti, P.1    Lieberman, A.P.2    Wilde, E.A.3    Giordani, B.I.4    Kluin, K.J.5    Koeppe, R.A.6
  • 65
    • 0031672540 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
    • D. Neary, J.S. Snowden, L. Gustafson, U. Passant, D. Stuss, and S. Black Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria Neurology 51 1998 1546 1554
    • (1998) Neurology , vol.51 , pp. 1546-1554
    • Neary, D.1    Snowden, J.S.2    Gustafson, L.3    Passant, U.4    Stuss, D.5    Black, S.6
  • 66
    • 0037044295 scopus 로고    scopus 로고
    • Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities
    • S. O'Riordan, P. McMonagle, J.C. Janssen, N.C. Fox, M. Farrell, and J. Collinge Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities Neurology 59 2002 1108 1110
    • (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
  • 67
    • 0041865226 scopus 로고    scopus 로고
    • Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred
    • P. Pastor, C.M. Roe, A. Villegas, G. Bedoya, S. Chakraverty, and G. Garcia Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred Ann Neurol 54 2003 163 169
    • (2003) Ann Neurol , vol.54 , pp. 163-169
    • Pastor, P.1    Roe, C.M.2    Villegas, A.3    Bedoya, G.4    Chakraverty, S.5    Garcia, G.6
  • 68
    • 0029554875 scopus 로고
    • A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene
    • J. Perez-Tur, S. Froelich, G. Prihar, R. Crook, M. Baker, and K. Duff A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene Neuroreport 7 1995 297 301
    • (1995) Neuroreport , vol.7 , pp. 297-301
    • Perez-Tur, J.1    Froelich, S.2    Prihar, G.3    Crook, R.4    Baker, M.5    Duff, K.6
  • 69
    • 34249099116 scopus 로고    scopus 로고
    • Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype
    • A. Piccini, G. Zanusso, R. Borghi, C. Noviello, S. Monaco, and R. Russo Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype Arch Neurol 64 2007 738 745
    • (2007) Arch Neurol , vol.64 , pp. 738-745
    • Piccini, A.1    Zanusso, G.2    Borghi, R.3    Noviello, C.4    Monaco, S.5    Russo, R.6
  • 72
    • 0034727610 scopus 로고    scopus 로고
    • Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation
    • G. Raux, R. Gantier, C. Thomas-Anterion, J. Boulliat, P. Verpillat, and D. Hannequin Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation Neurology 55 2000 1577 1578
    • (2000) Neurology , vol.55 , pp. 1577-1578
    • Raux, G.1    Gantier, R.2    Thomas-Anterion, C.3    Boulliat, J.4    Verpillat, P.5    Hannequin, D.6
  • 73
    • 26944475934 scopus 로고    scopus 로고
    • Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: An update
    • G. Raux, L. Guyant-Marechal, C. Martin, J. Bou, C. Penet, and A. Brice Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update J Med Genet 42 2005 793 795
    • (2005) J Med Genet , vol.42 , pp. 793-795
    • Raux, G.1    Guyant-Marechal, L.2    Martin, C.3    Bou, J.4    Penet, C.5    Brice, A.6
  • 76
    • 0035964209 scopus 로고    scopus 로고
    • Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations
    • E.A. Rogaeva, K.C. Fafel, Y.Q. Song, H. Medeiros, C. Sato, and Y. Liang Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations Neurology 57 2001 621 625
    • (2001) Neurology , vol.57 , pp. 621-625
    • Rogaeva, E.A.1    Fafel, K.C.2    Song, Y.Q.3    Medeiros, H.4    Sato, C.5    Liang, Y.6
  • 77
    • 0033774379 scopus 로고    scopus 로고
    • Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692)
    • G. Roks, F. Van Harskamp, I. De Koning, M. Cruts, C. De Jonghe, and S. Kumar-Singh Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692) Brain 123 2000 2130 2140
    • (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
  • 80
    • 29444442794 scopus 로고    scopus 로고
    • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
    • A. Rovelet-Lecrux, D. Hannequin, G. Raux, N.L. Meur, A. Laquerriere, and A. Vital APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy Nat Genet 38 2006 24 26
    • (2006) Nat Genet , vol.38 , pp. 24-26
    • Rovelet-Lecrux, A.1    Hannequin, D.2    Raux, G.3    Meur, N.L.4    Laquerriere, A.5    Vital, A.6
  • 81
    • 11144354609 scopus 로고    scopus 로고
    • Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration
    • C.A. Saura, S.Y. Choi, V. Beglopoulos, S. Malkani, D. Zhang, and B.S. Shankaranarayana Rao Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration Neuron 42 2004 23 36
    • (2004) Neuron , vol.42 , pp. 23-36
    • Saura, C.A.1    Choi, S.Y.2    Beglopoulos, V.3    Malkani, S.4    Zhang, D.5    Shankaranarayana Rao, B.S.6
  • 83
    • 0141646636 scopus 로고    scopus 로고
    • Onset of dementia is associated with age at menopause in women with Down's syndrome
    • N. Schupf, D. Pang, B.N. Patel, W. Silverman, R. Schubert, and F. Lai Onset of dementia is associated with age at menopause in women with Down's syndrome Ann Neurol 54 2003 433 438
    • (2003) Ann Neurol , vol.54 , pp. 433-438
    • Schupf, N.1    Pang, D.2    Patel, B.N.3    Silverman, W.4    Schubert, R.5    Lai, F.6
  • 84
    • 33947314641 scopus 로고    scopus 로고
    • Natural oligomers of the Alzheimer amyloid-beta protein induce reversible synapse loss by modulating an NMDA-type glutamate receptor-dependent signaling pathway
    • G.M. Shankar, B.L. Bloodgood, M. Townsend, D.M. Walsh, D.J. Selkoe, and B.L. Sabatini Natural oligomers of the Alzheimer amyloid-beta protein induce reversible synapse loss by modulating an NMDA-type glutamate receptor-dependent signaling pathway J Neurosci 27 2007 2866 2875
    • (2007) J Neurosci , vol.27 , pp. 2866-2875
    • Shankar, G.M.1    Bloodgood, B.L.2    Townsend, M.3    Walsh, D.M.4    Selkoe, D.J.5    Sabatini, B.L.6
  • 86
    • 0029004341 scopus 로고
    • Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
    • R. Sherrington, E.I. Rogaev, Y. Liang, E.A. Rogaeva, G. Levesque, and M. Ikeda Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease Nature 375 1995 754 760
    • (1995) Nature , vol.375 , pp. 754-760
    • Sherrington, R.1    Rogaev, E.I.2    Liang, Y.3    Rogaeva, E.A.4    Levesque, G.5    Ikeda, M.6
  • 87
    • 33750579333 scopus 로고    scopus 로고
    • APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy
    • K. Sleegers, N. Brouwers, I. Gijselinck, J. Theuns, D. Goossens, and J. Wauters APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy Brain 129 2006 2977 2983
    • (2006) Brain , vol.129 , pp. 2977-2983
    • Sleegers, K.1    Brouwers, N.2    Gijselinck, I.3    Theuns, J.4    Goossens, D.5    Wauters, J.6
  • 89
    • 0034813045 scopus 로고    scopus 로고
    • Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile)
    • N. Sodeyama, T. Iwata, K. Ishikawa, H. Mizusawa, M. Yamada, and Y. Itoh Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile) J Neurol Neurosurg Psychiatry 71 2001 556 557
    • (2001) J Neurol Neurosurg Psychiatry , vol.71 , pp. 556-557
    • Sodeyama, N.1    Iwata, T.2    Ishikawa, K.3    Mizusawa, H.4    Yamada, M.5    Itoh, Y.6
  • 90
    • 0033536072 scopus 로고    scopus 로고
    • Proteolytic release and nuclear translocation of Notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations
    • W. Song, P. Nadeau, M. Yuan, X. Yang, J. Shen, and B.A. Yankner Proteolytic release and nuclear translocation of Notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations Proc Natl Acad Sci USA 96 1999 6959 6963
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 6959-6963
    • Song, W.1    Nadeau, P.2    Yuan, M.3    Yang, X.4    Shen, J.5    Yankner, B.A.6
  • 91
    • 0029001744 scopus 로고
    • Epistatic effect of APP717 mutation and apolipoprotein e genotype in familial Alzheimer's disease
    • S. Sorbi, B. Nacmias, P. Forleo, S. Piacentini, S. Latorraca, and L. Amaducci Epistatic effect of APP717 mutation and apolipoprotein E genotype in familial Alzheimer's disease Ann Neurol 38 1995 124 127
    • (1995) Ann Neurol , vol.38 , pp. 124-127
    • Sorbi, S.1    Nacmias, B.2    Forleo, P.3    Piacentini, S.4    Latorraca, S.5    Amaducci, L.6
  • 92
    • 0037010284 scopus 로고    scopus 로고
    • Alzheimer's disease with spastic paresis and cotton wool type plaques
    • T. Tabira, H. Chui de, H. Nakayama, S. Kuroda, and M. Shibuya Alzheimer's disease with spastic paresis and cotton wool type plaques J Neurosci Res 70 2002 367 372
    • (2002) J Neurosci Res , vol.70 , pp. 367-372
    • Tabira, T.1    De, C.H.2    Nakayama, H.3    Kuroda, S.4    Shibuya, M.5
  • 93
    • 0036827031 scopus 로고    scopus 로고
    • Intraneuronal Alzheimer abeta42 accumulates in multivesicular bodies and is associated with synaptic pathology
    • R.H. Takahashi, T.A. Milner, F. Li, E.E. Nam, M.A. Edgar, and H. Yamaguchi Intraneuronal Alzheimer abeta42 accumulates in multivesicular bodies and is associated with synaptic pathology Am J Pathol 161 2002 1869 1879
    • (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
  • 96
    • 33645505550 scopus 로고    scopus 로고
    • Effects of secreted oligomers of amyloid beta-protein on hippocampal synaptic plasticity: A potent role for trimers
    • M. Townsend, G.M. Shankar, T. Mehta, D.M. Walsh, and D.J. Selkoe Effects of secreted oligomers of amyloid beta-protein on hippocampal synaptic plasticity: a potent role for trimers J Physiol 572 2006 477 492
    • (2006) J Physiol , vol.572 , pp. 477-492
    • Townsend, M.1    Shankar, G.M.2    Mehta, T.3    Walsh, D.M.4    Selkoe, D.J.5
  • 97
    • 0034646249 scopus 로고    scopus 로고
    • Variant Alzheimer's disease with spastic paraparesis: Clinical characterization
    • A. Verkkoniemi, M. Somer, J.O. Rinne, L. Myllykangas, R. Crook, and J. Hardy Variant Alzheimer's disease with spastic paraparesis: clinical characterization Neurology 54 2000 1103 1109
    • (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
  • 98
    • 0031039294 scopus 로고    scopus 로고
    • Prospective study of the prevalence of Alzheimer-type dementia in institutionalized individuals with Down syndrome
    • F.E. Visser, A.P. Aldenkamp, A.C. van Huffelen, M. Kuilman, J. Overweg, and J. van Wijk Prospective study of the prevalence of Alzheimer-type dementia in institutionalized individuals with Down syndrome Am J Ment Retard 101 1997 400 412
    • (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
  • 99
    • 6844240203 scopus 로고    scopus 로고
    • A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years
    • T. Wisniewski, W.K. Dowjat, J.D. Buxbaum, O. Khorkova, S. Efthimiopoulos, and J. Kulczycki A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years Neuroreport 9 1998 217 221
    • (1998) Neuroreport , vol.9 , pp. 217-221
    • Wisniewski, T.1    Dowjat, W.K.2    Buxbaum, J.D.3    Khorkova, O.4    Efthimiopoulos, S.5    Kulczycki, J.6
  • 100
    • 33947242870 scopus 로고    scopus 로고
    • When loss is gain: Reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease
    • M.S. Wolfe When loss is gain: reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease EMBO Rep 8 2007 136 140
    • (2007) EMBO Rep , vol.8 , pp. 136-140
    • Wolfe, M.S.1
  • 101
    • 33746220090 scopus 로고    scopus 로고
    • Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: Genetic and bioinformatic assessment
    • C. Zekanowski, M.P. Golan, K.A. Krzysko, W. Lipczynska-Lojkowska, S. Filipek, and A. Kowalska Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment Exp Neurol 200 2006 82 88
    • (2006) Exp Neurol , vol.200 , pp. 82-88
    • Zekanowski, C.1    Golan, M.P.2    Krzysko, K.A.3    Lipczynska-Lojkowska, W.4    Filipek, S.5    Kowalska, A.6


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