메뉴 건너뛰기




Volumn 123, Issue 5, 2000, Pages 894-907

Alzheimer's disease due to an intronic presenilin-1 (PSEN1 intron 4) mutation. A clinicopathological study

Author keywords

Alzheimer's disease; Apolipoprotein E; Familial Alzheimer's disease; Presenilin 1

Indexed keywords

APOLIPOPROTEIN E; CHLORPROMAZINE; MEDROXYPROGESTERONE ACETATE; PHENOBARBITAL; PHENYTOIN; PRESENILIN 1; VALPROIC ACID;

EID: 17944384483     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/123.5.894     Document Type: Article
Times cited : (30)

References (58)
  • 1
    • 0029115555 scopus 로고
    • The structure of the presenilin I (S182) gene and identification of six novel mutations in early onset AD families
    • Alzheimer's Disease Collaborative Group. The structure of the presenilin I (S182) gene and identification of six novel mutations in early onset AD families. Nature Genet 1995; 11: 219-22.
    • (1995) Nature Genet , vol.11 , pp. 219-222
  • 2
    • 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
    • Baumeister R, Leimer U, Zweckbronner I, Jakubek C, Grunberg J, Haass C. Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing. Genes Funct 1997; 1: 149-59.
    • (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
  • 3
    • 0028558615 scopus 로고
    • Measuring dysgraphia: A graded-difflculty spelling test
    • Baxter DM, Warrington EK. Measuring dysgraphia: a graded-difflculty spelling test. Behav Neurol 1994; 7: 107-16.
    • (1994) Behav Neurol , vol.7 , pp. 107-116
    • Baxter, D.M.1    Warrington, E.K.2
  • 4
    • 0010597535 scopus 로고
    • Die silberimpregnation der axonzylinder
    • Bielschowsky M. Die silberimpregnation der axonzylinder. Zentralb Neurol 1902; 21: 579.
    • (1902) Zentralb Neurol , vol.21 , pp. 579
    • Bielschowsky, M.1
  • 6
    • 0028458298 scopus 로고
    • Four easy memory tests for older adults
    • Clegg F, Warrington EK. Four easy memory tests for older adults. Memory 1994; 2: 167-82.
    • (1994) Memory , vol.2 , pp. 167-182
    • Clegg, F.1    Warrington, E.K.2
  • 7
    • 0028861041 scopus 로고
    • Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3
    • Cruts M, Backhovens H, Wang SY, Gassen GV, Theuns J, De Jonghe CD, et al. Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3. Hum Mol Genet 1995; 4: 2363-71.
    • (1995) Hum Mol Genet , vol.4 , pp. 2363-2371
    • Cruts, M.1    Backhovens, H.2    Wang, S.Y.3    Gassen, G.V.4    Theuns, J.5    De Jonghe, C.D.6
  • 8
    • 0029813255 scopus 로고    scopus 로고
    • The presenilin genes: A new gene family involved in Alzheimer disease pathology
    • Cruts M, Hendriks L, Van Broeckhoven C. The presenilin genes: a new gene family involved in Alzheimer disease pathology. [Review]. Hum Mol Genet 1996; 5 Spec No: 1449-55.
    • (1996) Hum Mol Genet , vol.5 , Issue.SPEC NO , pp. 1449-1455
    • Cruts, M.1    Hendriks, L.2    Van Broeckhoven, C.3
  • 11
    • 0016823810 scopus 로고
    • 'Mini mental state': A practical method for grading the cognitive state of patients for the clinician
    • Folstein MF, Folstein SE, McHughs 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    McHughs, P.R.3
  • 12
    • 0031397650 scopus 로고    scopus 로고
    • Brain atrophy progression measured from registered serial MRI: Validation and application to Alzheimer's disease
    • Fox NC, Freeborough PA. Brain atrophy progression measured from registered serial MRI: validation and application to Alzheimer's disease. J Magn Reson Imaging 1997; 7: 1069-75.
    • (1997) J Magn Reson Imaging , vol.7 , pp. 1069-1075
    • Fox, N.C.1    Freeborough, P.A.2
  • 13
    • 0030944258 scopus 로고    scopus 로고
    • Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor
    • Fox NC, Kennedy AM, Harvey RJ, Lantos PL, Roques PK, Collinge J, et al. Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor. Brain 1997; 120: 491-501.
    • (1997) Brain , vol.120 , pp. 491-501
    • Fox, N.C.1    Kennedy, A.M.2    Harvey, R.J.3    Lantos, P.L.4    Roques, P.K.5    Collinge, J.6
  • 14
    • 0031707071 scopus 로고    scopus 로고
    • Presymptomatic cognitive deficits in individuals at risk of familial Alzheimer's disease. A longitudinal prospective study
    • Fox NC, Warrington EK, Seiffer AL, Agnew SK, Rossor MN. Presymptomatic cognitive deficits in individuals at risk of familial Alzheimer's disease. A longitudinal prospective study. Brain 1998; 121: 1631-9.
    • (1998) Brain , vol.121 , pp. 1631-1639
    • Fox, N.C.1    Warrington, E.K.2    Seiffer, A.L.3    Agnew, S.K.4    Rossor, M.N.5
  • 15
    • 0033549033 scopus 로고    scopus 로고
    • Correlation between rates of brain atrophy and cognitive decline in AD
    • Fox NC, Scahill RI, Crum WR, Rossor MN. Correlation between rates of brain atrophy and cognitive decline in AD. Neurology 1999; 52: 1687-9.
    • (1999) Neurology , vol.52 , pp. 1687-1689
    • Fox, N.C.1    Scahill, R.I.2    Crum, W.R.3    Rossor, M.N.4
  • 16
    • 0029802526 scopus 로고    scopus 로고
    • Accurate registration of serial 3D MR brain images and its application to visualizing change in neurodegenerative disorders
    • Freeborough PA, Woods RP, Fox NC. Accurate registration of serial 3D MR brain images and its application to visualizing change in neurodegenerative disorders. J Comput Assist Tomogr 1996; 20: 1012-22.
    • (1996) J Comput Assist Tomogr , vol.20 , pp. 1012-1022
    • Freeborough, P.A.1    Woods, R.P.2    Fox, N.C.3
  • 18
    • 2542509819 scopus 로고    scopus 로고
    • The impact of different presenilin 1 and presenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: Evidence for other phenotype-modifying factors
    • Gomez-Isla T, Growdon WB, McNamara MJ, Nochlin D, Bird TD, Arango JC, et al. The impact of different presenilin 1 and presenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors. Brain 1999; 122: 1709-19.
    • (1999) Brain , vol.122 , pp. 1709-1719
    • Gomez-Isla, T.1    Growdon, W.B.2    McNamara, M.J.3    Nochlin, D.4    Bird, T.D.5    Arango, J.C.6
  • 19
    • 0028067657 scopus 로고
    • Chromosome 14-encoded Alzheimer's disease: Genetic and clinicopathological description
    • Haltia M, Viitanen M, Sulkava R, Ala-Hurula V, Poyhonen M, Goldfarb L, et al. Chromosome 14-encoded Alzheimer's disease: genetic and clinicopathological description. Ann Neurol 1994; 36: 362-7.
    • (1994) Ann Neurol , vol.36 , pp. 362-367
    • Haltia, M.1    Viitanen, M.2    Sulkava, R.3    Ala-Hurula, V.4    Poyhonen, M.5    Goldfarb, L.6
  • 20
    • 0028858525 scopus 로고
    • Apolipoprotein E in the genetics and epidemiology of Alzheimer's disease
    • Hardy J. Apolipoprotein E in the genetics and epidemiology of Alzheimer's disease. Am J Med Genet 1995; 60: 456-60.
    • (1995) Am J Med Genet , vol.60 , pp. 456-460
    • Hardy, J.1
  • 21
    • 0031052381 scopus 로고    scopus 로고
    • Amyloid, the presenilins and Alzheimer's disease
    • Hardy J. Amyloid, the presenilins and Alzheimer's disease. [Review]. Trends Neurosci 1997; 20: 154-9.
    • (1997) Trends Neurosci , vol.20 , pp. 154-159
    • Hardy, J.1
  • 22
    • 0028961974 scopus 로고
    • Is semantic memory consistently impaired early in the course of Alzheimer's disease? Neuroanatomical and diagnostic implications
    • Hodges JR, Patterson K. Is semantic memory consistently impaired early in the course of Alzheimer's disease? Neuroanatomical and diagnostic implications. Neuropsychologia 1995; 33: 441-59.
    • (1995) Neuropsychologia , vol.33 , pp. 441-459
    • Hodges, J.R.1    Patterson, K.2
  • 23
    • 0031255112 scopus 로고    scopus 로고
    • Consensus recommendations for the postmortem diagnosis of Alzheimer disease from the National Institute on Aging and the Reagan Institute Working Group on diagnostic criteria for the neuropathological assessment of Alzheimer disease
    • Hyman BT, Trojanowski JQ. Consensus recommendations for the postmortem diagnosis of Alzheimer disease from the National Institute on Aging and the Reagan Institute Working Group on diagnostic criteria for the neuropathological assessment of Alzheimer disease. J Neuropathol Exp Neurol 1997; 56: 1095-7.
    • (1997) J Neuropathol Exp Neurol , vol.56 , pp. 1095-1097
    • Hyman, B.T.1    Trojanowski, J.Q.2
  • 24
    • 0022876757 scopus 로고
    • Arithmetic skills in patients with unilateral cerebral lesions
    • Jackson M, Warrington EK. Arithmetic skills in patients with unilateral cerebral lesions. Cortex 1986; 22: 611-20.
    • (1986) Cortex , vol.22 , pp. 611-620
    • Jackson, M.1    Warrington, E.K.2
  • 25
    • 0029058934 scopus 로고
    • Neuropsychological detection and characterization of preclinical Alzheimer's disease
    • Jacobs DM, Sano M, Dooneief G, Marder K, Bell KL, Stern Y. Neuropsychological detection and characterization of preclinical Alzheimer's disease. Neurology 1995; 45: 957-62.
    • (1995) Neurology , vol.45 , pp. 957-962
    • Jacobs, D.M.1    Sano, M.2    Dooneief, G.3    Marder, K.4    Bell, K.L.5    Stern, Y.6
  • 26
    • 0025935552 scopus 로고
    • A family with multiple instances of definite, probable and possible early-onset Alzheimer's disease
    • Karlinsky H, Madrick E, Ridgley J, Berg JM, Becker R, Bergeron C, et al. A family with multiple instances of definite, probable and possible early-onset Alzheimer's disease. Br J Psychiatry 1991; 159: 524-30.
    • (1991) Br J Psychiatry , vol.159 , pp. 524-530
    • Karlinsky, H.1    Madrick, E.2    Ridgley, J.3    Berg, J.M.4    Becker, R.5    Bergeron, C.6
  • 27
    • 0028939592 scopus 로고
    • Visuospatial deficit in dementia of the Alzheimer type
    • Kaskie B, Storandt M. Visuospatial deficit in dementia of the Alzheimer type. Arch Neurol 1995; 52: 422-5.
    • (1995) Arch Neurol , vol.52 , pp. 422-425
    • Kaskie, B.1    Storandt, M.2
  • 28
    • 0027477716 scopus 로고
    • Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine→glycine)
    • Kennedy AM, Newman S, McCaddon A, Ball J, Roques P, Mullan M, et al. Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine→glycine). Brain 1993; 116: 309-24.
    • (1993) Brain , vol.116 , pp. 309-324
    • Kennedy, A.M.1    Newman, S.2    McCaddon, A.3    Ball, J.4    Roques, P.5    Mullan, M.6
  • 29
    • 0028910851 scopus 로고
    • Chromosome 14 linked familial Alzheimer's disease: A clinico-pathological study of a single pedigree
    • Kennedy AM, Newman SK, Frackowiak RS, Cunningham VJ, Roques P, Stevens J, et al. Chromosome 14 linked familial Alzheimer's disease: a clinico-pathological study of a single pedigree. Brain 1995; 118: 185-205.
    • (1995) Brain , vol.118 , pp. 185-205
    • Kennedy, A.M.1    Newman, S.K.2    Frackowiak, R.S.3    Cunningham, V.J.4    Roques, P.5    Stevens, J.6
  • 30
    • 0027971051 scopus 로고
    • Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred
    • Lampe TH, Bird TD, Nochlin D, Nemens E, Risse SC, Sumi SM, et al. Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred. Ann Neurol 1994; 36: 368-78.
    • (1994) Ann Neurol , vol.36 , pp. 368-378
    • Lampe, T.H.1    Bird, T.D.2    Nochlin, D.3    Nemens, E.4    Risse, S.C.5    Sumi, S.M.6
  • 31
    • 0029940649 scopus 로고    scopus 로고
    • Clinical and neuropsychological characteristics in familial and sporadic Alzheimer's disease: Relation to apolipoprotein E polymorphism
    • Lehtovirta M, Soininen H, Helisalmi S, Mannermaa A, Helkala EL, Hartikainen P, et al. Clinical and neuropsychological characteristics in familial and sporadic Alzheimer's disease: relation to apolipoprotein E polymorphism. Neurology 1996; 46: 413-9.
    • (1996) Neurology , vol.46 , pp. 413-419
    • Lehtovirta, M.1    Soininen, H.2    Helisalmi, S.3    Mannermaa, A.4    Helkala, E.L.5    Hartikainen, P.6
  • 32
    • 0029116848 scopus 로고
    • Facilitation of lin-12-mediated signalling by sel-12, a caenorhabditis elegans S182 Alzheimer's disease gene
    • Levitan D, Greenwald I. Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene. Nature 1995; 377: 351-4.
    • (1995) Nature , vol.377 , pp. 351-354
    • Levitan, D.1    Greenwald, I.2
  • 34
    • 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
    • Lippa CF, Fujiwara H, Mann DM, Giasson B, Baba M, Schmidt ML, et al. 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 1998; 153: 1365-70.
    • (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
  • 35
    • 9444276544 scopus 로고    scopus 로고
    • Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: Predominance of Abeta42(43)
    • Mann DM, Iwatsubo T, Cairns NJ, Lantos PL, Nochlin D, Sumi SM, et al. Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43). Ann Neurol 1996a; 40: 149-56.
    • (1996) Ann Neurol , vol.40 , pp. 149-156
    • Mann, D.M.1    Iwatsubo, T.2    Cairns, N.J.3    Lantos, P.L.4    Nochlin, D.5    Sumi, S.M.6
  • 36
    • 0029869667 scopus 로고    scopus 로고
    • Predominant deposition of amyloid-beta 42(43) in plaques in cases of Alzheimer's disease and hereditary cerebral hemorrhage associated with mutations in the amyloid precursor protein gene
    • Mann DM, Iwatsubo T, Ihara Y, Cairns NJ, Lantos PL, Bogdanovic N, et al. Predominant deposition of amyloid-beta 42(43) in plaques in cases of Alzheimer's disease and hereditary cerebral hemorrhage associated with mutations in the amyloid precursor protein gene. Am J Pathol 1996b; 148: 1257-66.
    • (1996) Am J Pathol , vol.148 , pp. 1257-1266
    • Mann, D.M.1    Iwatsubo, T.2    Ihara, Y.3    Cairns, N.J.4    Lantos, P.L.5    Bogdanovic, N.6
  • 37
    • 0021882237 scopus 로고
    • Heterogeneity in dementia of the Alzheimer type: Evidence of subgroups
    • Mayeux R, Stern Y, Spanton S. Heterogeneity in dementia of the Alzheimer type: evidence of subgroups. Neurology 1985; 35: 453-60.
    • (1985) Neurology , vol.35 , pp. 453-460
    • Mayeux, R.1    Stern, Y.2    Spanton, S.3
  • 39
    • 0021271971 scopus 로고
    • Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease
    • McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984; 34: 939-44.
    • (1984) Neurology , vol.34 , pp. 939-944
    • McKhann, G.1    Drachman, D.2    Folstein, M.3    Katzman, R.4    Price, D.5    Stadlan, E.M.6
  • 40
    • 0025780497 scopus 로고
    • Very mild Alzheimer's disease: Informant-based clinical, psychometric and pathological distinction from normal aging
    • Morris JC, McKeel DW Jr, Storandt M, Rubin EH, Price JL, Grant EA, et al. Very mild Alzheimer's disease: informant-based clinical, psychometric and pathological distinction from normal aging. Neurology 1991; 41: 469-78.
    • (1991) Neurology , vol.41 , pp. 469-478
    • Morris, J.C.1    McKeel D.W., Jr.2    Storandt, M.3    Rubin, E.H.4    Price, J.L.5    Grant, E.A.6
  • 41
    • 0027426406 scopus 로고
    • Age of onset in familial early-onset Alzheimer's disease correlates with genetic aetiology
    • Mullan M, Houlden H, Crawford F, Kennedy A, Rogues P, Rossor M. Age of onset in familial early-onset Alzheimer's disease correlates with genetic aetiology. Am J Med Genet 1993; 48: 129-30.
    • (1993) Am J Med Genet , vol.48 , pp. 129-130
    • Mullan, M.1    Houlden, H.2    Crawford, F.3    Kennedy, A.4    Rogues, P.5    Rossor, M.6
  • 43
    • 0017033821 scopus 로고
    • A modified card sorting test sensitive to frontal lobe defects
    • Nelson HE. A modified card sorting test sensitive to frontal lobe defects. Cortex 1976; 12: 313-24.
    • (1976) Cortex , vol.12 , pp. 313-324
    • Nelson, H.E.1
  • 45
    • 0028015587 scopus 로고
    • The earliest cognitive change in a person with familial Alzheimer's disease: Presymptomatic neuropsychological features in a pedigree with familial Alzheimer's disease confirmed at necropsy
    • Newman SK, Warrington EK, Kennedy AM, Rossor MN. The earliest cognitive change in a person with familial Alzheimer's disease: presymptomatic neuropsychological features in a pedigree with familial Alzheimer's disease confirmed at necropsy. J Neurol, Neurosurg Psychiatry 1994; 57: 967-72.
    • (1994) J Neurol, Neurosurg Psychiatry , vol.57 , pp. 967-972
    • Newman, S.K.1    Warrington, E.K.2    Kennedy, A.M.3    Rossor, M.N.4
  • 46
    • 0013817435 scopus 로고
    • Response latencies in naming objects
    • Oldfleld RC, Wingfield A. Response latencies in naming objects. Q J Exp Psychol 1965; 17: 273-81.
    • (1965) Q J Exp Psychol , vol.17 , pp. 273-281
    • Oldfleld, R.C.1    Wingfield, A.2
  • 48
    • 16044373524 scopus 로고    scopus 로고
    • Scheuner D, Eckman C, Jensen M, Song X, Citron M, Suzuki N, et al. Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nature Med 1996; 2: 864-70.
    • (1996) Nature Med , vol.2 , pp. 864-870
    • Scheuner, D.1    Eckman, C.2    Jensen, M.3    Song, X.4    Citron, M.5    Suzuki, N.6
  • 49
    • 0033600274 scopus 로고    scopus 로고
    • Translating cell biology into therapeutic advances in Alzheimer's disease
    • Selkoe DJ. Translating cell biology into therapeutic advances in Alzheimer's disease. Nature 1999; 399 (Suppl): A23-31.
    • (1999) Nature , vol.399 , Issue.SUPPL.
    • Selkoe, D.J.1
  • 51
    • 0031893609 scopus 로고    scopus 로고
    • A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease
    • Tysoe C, Whittaker J, Xuereb J, Cairns NJ, Cruts M, Van Broeckhoven C, et al. A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease. Am J Hum Genet 1998; 62: 70-6.
    • (1998) Am J Hum Genet , vol.62 , pp. 70-76
    • Tysoe, C.1    Whittaker, J.2    Xuereb, J.3    Cairns, N.J.4    Cruts, M.5    Van Broeckhoven, C.6
  • 52
    • 0028350675 scopus 로고
    • APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease
    • Van Broeckhoven C, Backhovens H, Cruts M, Martin JJ, Crook R, Houlden H, et al. APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease. Neurosci Lett 1994; 169: 179-80.
    • (1994) Neurosci Lett , vol.169 , pp. 179-180
    • Van Broeckhoven, C.1    Backhovens, H.2    Cruts, M.3    Martin, J.J.4    Crook, R.5    Houlden, H.6
  • 58
    • 0002153647 scopus 로고
    • On the psychology of so-called processes of abstraction
    • Weigl E. On the psychology of so-called processes of abstraction. J Abnorm Social Psychol 1941; 36: 3-33.
    • (1941) J Abnorm Social Psychol , vol.36 , pp. 3-33
    • Weigl, E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.