메뉴 건너뛰기




Volumn 100, Issue 2, 2000, Pages 145-152

Lewy body and Alzheimer pathology in a family with the amyloid-β precursor protein APP717 gene mutation

Author keywords

Alzheimer's disease; APP717 gene mutation; Beta amyloid; Dementia with Lewy bodies; Parkinson's disease

Indexed keywords

AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E;

EID: 0033938846     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004019900155     Document Type: Article
Times cited : (55)

References (55)
  • 1
    • 4244192622 scopus 로고
    • Familial Alzheimer's disease with an APP717 point mutation and sporadic Alzheimer's disease have the same cytoskeletal pathology
    • 224
    • Anderton B, Hanger D, Lantos P, Mullan M, Rossor M, Luthert P (1992) Familial Alzheimer's disease with an APP717 point mutation and sporadic Alzheimer's disease have the same cytoskeletal pathology. Neurobiol Aging 13: S57(224)
    • (1992) Neurobiol Aging , vol.13
    • Anderton, B.1    Hanger, D.2    Lantos, P.3    Mullan, M.4    Rossor, M.5    Luthert, P.6
  • 3
    • 0028011107 scopus 로고
    • A case of Down's syndrome with diffuse Lewy body disease and Alzheimer's disease
    • Bodhireddy S, Dickson DW, Mattiace L, Weidenheim KM (1994) A case of Down's syndrome with diffuse Lewy body disease and Alzheimer's disease. Neurology 44: 159-161
    • (1994) Neurology , vol.44 , pp. 159-161
    • Bodhireddy, S.1    Dickson, D.W.2    Mattiace, L.3    Weidenheim, K.M.4
  • 4
    • 0025863618 scopus 로고
    • Neuropathological staging of Alzheimer-related changes
    • Braak H, Braak E (1991) Neuropathological staging of Alzheimer-related changes. Acta Neuropathol 82: 239-259
    • (1991) Acta Neuropathol , vol.82 , pp. 239-259
    • Braak, H.1    Braak, E.2
  • 9
    • 0027337422 scopus 로고
    • Parkinson's Disease Society Brain Bank, London: Overview and research
    • Daniel SE, Lees AJ (1993) Parkinson's Disease Society Brain Bank, London: overview and research. J Neural Transm Suppl 39: 165-172
    • (1993) J Neural Transm Suppl , vol.39 , pp. 165-172
    • Daniel, S.E.1    Lees, A.J.2
  • 10
    • 0026879836 scopus 로고
    • Screening for mutations in the open reading frame and promoter of the β-amyloid precursor protein gene in familial Alzheimer's disease: Identification of a further family with APP717 Val to ile
    • Fidani L, Rooke K, Chartier-Harlin M-C, Hughes D, Tanzi R, Mullan M, Roques P, Rossor M, Hardy J, Goate A (1992) Screening for mutations in the open reading frame and promoter of the β-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val to ile. Hum Mol Genet 1: 165-168
    • (1992) Hum Mol Genet , vol.1 , pp. 165-168
    • Fidani, L.1    Rooke, K.2    Chartier-Harlin, M.-C.3    Hughes, D.4    Tanzi, R.5    Mullan, M.6    Roques, P.7    Rossor, M.8    Hardy, J.9    Goate, A.10
  • 11
    • 0029981526 scopus 로고    scopus 로고
    • Neuropathology of Parkinson's disease
    • Forno LM (1996) Neuropathology of Parkinson's disease. J Neuropathol Exp Neurol 55: 259-272
    • (1996) J Neuropathol Exp Neurol , vol.55 , pp. 259-272
    • Forno, L.M.1
  • 12
    • 0027343340 scopus 로고
    • Similarities and differences between MPTP-induced parkinsonism and Parkinson's disease: Neuropathologic considerations
    • Forno L, DeLanney LE, Irwin I, Langston JW (1993) Similarities and differences between MPTP-induced parkinsonism and Parkinson's disease: neuropathologic considerations. Adv Neurol 60: 600-608
    • (1993) Adv Neurol , vol.60 , pp. 600-608
    • Forno, L.1    DeLanney, L.E.2    Irwin, I.3    Langston, J.W.4
  • 13
    • 0029056590 scopus 로고
    • The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part X. Neuropathology confirmation of the clinical diagnosis of Alzheimer's disease
    • Gearing M, Mirra SS, Hedreen JC, Sumi SM, Hansen LA, Heyman A (1995) The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part X. Neuropathology confirmation of the clinical diagnosis of Alzheimer's disease. Neurology 45: 461-466
    • (1995) Neurology , vol.45 , pp. 461-466
    • Gearing, M.1    Mirra, S.S.2    Hedreen, J.C.3    Sumi, S.M.4    Hansen, L.A.5    Heyman, A.6
  • 14
    • 4243286682 scopus 로고
    • Hereditary Alzheimer's disease with a guanine to thymine missense change at position 1924 of the amyloid precursor protein (APP) gene
    • 256
    • Ghetti B, Farlow MR, Murrell J, Benson MD (1992) Hereditary Alzheimer's disease with a guanine to thymine missense change at position 1924 of the amyloid precursor protein (APP) gene. Neurobiol Aging 13: S65(256)
    • (1992) Neurobiol Aging , vol.13
    • Ghetti, B.1    Farlow, M.R.2    Murrell, J.3    Benson, M.D.4
  • 15
    • 0026088977 scopus 로고
    • Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
    • Goate A, Chartier-Harlin M-C, Mullan M, et al (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349: 704-706
    • (1991) Nature , vol.349 , pp. 704-706
    • Goate, A.1    Chartier-Harlin, M.-C.2    Mullan, M.3
  • 16
    • 0030950055 scopus 로고    scopus 로고
    • Further evidence for an association between a mutation in the APP gene and Lewy body formation
    • Halliday G, Brooks W, Arthur H, Creasey H, Broe GA (1997) Further evidence for an association between a mutation in the APP gene and Lewy body formation. Neurosci Lett 227: 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
  • 17
    • 0025854442 scopus 로고
    • Molecular classification of Alzheimer's disease
    • Hardy J, Mullan M, Chartier-Harlin M-C. et al (1991) Molecular classification of Alzheimer's disease. Lancet 337: 1342-1343
    • (1991) Lancet , vol.337 , pp. 1342-1343
    • Hardy, J.1    Mullan, M.2    Chartier-Harlin, M.-C.3
  • 20
    • 0026514953 scopus 로고
    • Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinicopathological study of 100 cases
    • Hughes AJ, Daniel SE, Kilford L, Lees AJ (1992) Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinicopathological study of 100 cases. J Neurol Neurosurg Psychiatry 55: 181-184
    • (1992) J Neurol Neurosurg Psychiatry , vol.55 , pp. 181-184
    • Hughes, A.J.1    Daniel, S.E.2    Kilford, L.3    Lees, A.J.4
  • 21
    • 0029396761 scopus 로고
    • The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part IX. A prospective cliniconeuropathologic study of Parkinson's features in Alzheimer's disease
    • Hulette C, Mirra S, Wilkinson W, Heyman A, Fillenbaum G, Clark C (1995) The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part IX. A prospective cliniconeuropathologic study of Parkinson's features in Alzheimer's disease. Neurology 45: 1991-1995
    • (1995) Neurology , vol.45 , pp. 1991-1995
    • Hulette, C.1    Mirra, S.2    Wilkinson, W.3    Heyman, A.4    Fillenbaum, G.5    Clark, C.6
  • 23
    • 0031255112 scopus 로고    scopus 로고
    • Editorial on consensus recommendations for the postmortem diagnosis of Alzheimer's disease from the National Institute on Aging and the Reagan Institute Working Group on Diagnostic Criteria for the neuropathological assessment of Alzheimer's disease
    • Hyman BT, Trojanowski JQ (1997) Editorial on consensus recommendations for the postmortem diagnosis of Alzheimer's disease from the National Institute on Aging and the Reagan Institute Working Group on Diagnostic Criteria for the neuropathological assessment of Alzheimer's disease. J Neuropathol Exp Neurol 56: 1095-1097
    • (1997) J Neuropathol Exp Neurol , vol.56 , pp. 1095-1097
    • Hyman, B.T.1    Trojanowski, J.Q.2
  • 24
    • 0026686822 scopus 로고
    • Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the β-amyloid precursor protein gene
    • Karlinsky H, Vaula G, Haines JL, et al (1992) Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the β-amyloid precursor protein gene. Neurology 42: 1445-1453
    • (1992) Neurology , vol.42 , pp. 1445-1453
    • Karlinsky, H.1    Vaula, G.2    Haines, J.L.3
  • 26
    • 0026547582 scopus 로고
    • Familial Alzheimer's disease with the amyloid precursor protein position 717 mutation and sporadic Alzheimer's disease have the same cytoskeletal pathology
    • Lantos PL, Luthert PJ, Hanger D, Anderton BH, Mullan M, Rossor M (1992) Familial Alzheimer's disease with the amyloid precursor protein position 717 mutation and sporadic Alzheimer's disease have the same cytoskeletal pathology. Neurosci Lett 137: 221-224
    • (1992) Neurosci Lett , vol.137 , pp. 221-224
    • Lantos, P.L.1    Luthert, P.J.2    Hanger, D.3    Anderton, B.H.4    Mullan, M.5    Rossor, M.6
  • 27
    • 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
    • Lantos PL, Ovenstone IMK, Johnson J, Clelland CA, Roques P, Rossor MN (1994) 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: 77-79
    • (1994) Neurosci Lett , vol.172 , pp. 77-79
    • Lantos, P.L.1    Ovenstone, I.M.K.2    Johnson, J.3    Clelland, C.A.4    Roques, P.5    Rossor, M.N.6
  • 28
    • 0024596151 scopus 로고
    • Anti-ubiquitin immunocytochemistry is more sensitive than conventional techniques in the detection of diffuse Lewy body disease
    • Lennox G, Lowe J, Morrell K, Landon M, Mayer RJ (1989) Anti-ubiquitin immunocytochemistry is more sensitive than conventional techniques in the detection of diffuse Lewy body disease. J Neurol Neurosurg Psychiatry 52: 67-71
    • (1989) J Neurol Neurosurg Psychiatry , vol.52 , pp. 67-71
    • Lennox, G.1    Lowe, J.2    Morrell, K.3    Landon, M.4    Mayer, R.J.5
  • 31
    • 0028031458 scopus 로고
    • Hereditary cerebral hemorrhage with amyloidosis (Dutch): A model for congophilic plaque formation without neurofibrillary pathology
    • Maat-Scheiman MLC, Radder CM, Duinen SG van, Haan J, Roos RAC (1994) Hereditary cerebral hemorrhage with amyloidosis (Dutch): a model for congophilic plaque formation without neurofibrillary pathology. Acta Neuropathol 88: 371-378
    • (1994) Acta Neuropathol , vol.88 , pp. 371-378
    • Maat-Scheiman, M.L.C.1    Radder, C.M.2    Van Duinen, S.G.3    Haan, J.4    Roos, R.A.C.5
  • 32
    • 0026588875 scopus 로고
    • Pathological changes in the brain of a patient with familial Alzheimer's disease having a missense mutation at codon 717 in the amyloid precursor gene
    • Mann DMA, Jones D, Snowden JS, Neary D, Hardy J (1992) Pathological changes in the brain of a patient with familial Alzheimer's disease having a missense mutation at codon 717 in the amyloid precursor gene. Neurosci Lett 137: 225-228
    • (1992) Neurosci Lett , vol.137 , pp. 225-228
    • Mann, D.M.A.1    Jones, D.2    Snowden, J.S.3    Neary, D.4    Hardy, J.5
  • 33
    • 0029869667 scopus 로고    scopus 로고
    • Predominant deposition of amyloid-β42(43) in plaques in cases of Alzheimer's disease and hereditary cerebral hemorrhage associated with mutations in the amyloid precursor protein gene
    • Mann DMA, Iwatsubo T, Ihara Y, Cairns NJ, Lantos PL, Bogdanovic N, Lannfelt L, Winblad B, Maat-Scheiman MLC, Rossor MN (1996) Predominant deposition of amyloid-β42(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 148: 1257-1266
    • (1996) Am J Pathol , vol.148 , pp. 1257-1266
    • Mann, D.M.A.1    Iwatsubo, T.2    Ihara, Y.3    Cairns, N.J.4    Lantos, P.L.5    Bogdanovic, N.6    Lannfelt, L.7    Winblad, B.8    Maat-Scheiman, M.L.C.9    Rossor, M.N.10
  • 34
    • 0006164301 scopus 로고    scopus 로고
    • Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): Report of the consortium on DLB international workshop
    • McKeith IG, Galasko D, Kosaka K, et al (1996) Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop. Neurology 47: 1113-1124
    • (1996) Neurology , vol.47 , pp. 1113-1124
    • McKeith, I.G.1    Galasko, D.2    Kosaka, K.3
  • 35
    • 0026907151 scopus 로고
    • A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N terminus of β-amyloid
    • Mullan M, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B, Lannfelt L (1992) A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N terminus of β-amyloid. Nat Genet 1: 345-347
    • (1992) Nat Genet , vol.1 , pp. 345-347
    • Mullan, M.1    Crawford, F.2    Axelman, K.3    Houlden, H.4    Lilius, L.5    Winblad, B.6    Lannfelt, L.7
  • 36
    • 0027219223 scopus 로고
    • Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val to Ile mutation in the amyloid precursor protein gene
    • Mullan M, Tsuji S, Miki T, et al (1993) Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val to Ile mutation in the amyloid precursor protein gene. Neurobiol Aging 14: 407-419
    • (1993) Neurobiol Aging , vol.14 , pp. 407-419
    • Mullan, M.1    Tsuji, S.2    Miki, T.3
  • 37
    • 0025950987 scopus 로고
    • A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease
    • Murrell J, Farlow M, Ghetti B, Benson MD (1991) A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science 254: 97-99
    • (1991) Science , vol.254 , pp. 97-99
    • Murrell, J.1    Farlow, M.2    Ghetti, B.3    Benson, M.D.4
  • 39
    • 0023845490 scopus 로고
    • Colloid (hyaline) inclusion bodies in the central nervous system: Their presence in the substantia nigra is diagnostic of Parkinson's disease
    • Pappolla MA, Shank DL, Alzofon J, Dudley AW (1988) Colloid (hyaline) inclusion bodies in the central nervous system: their presence in the substantia nigra is diagnostic of Parkinson's disease. Hum Pathol 19: 27-31
    • (1988) Hum Pathol , vol.19 , pp. 27-31
    • Pappolla, M.A.1    Shank, D.L.2    Alzofon, J.3    Dudley, A.W.4
  • 40
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the α-synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos MH (1997) Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 276: 2045-2047
    • (1997) Science , vol.276 , pp. 2045-2047
    • Polymeropoulos, M.H.1
  • 42
    • 0029101491 scopus 로고
    • Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
    • Rogaev EI, Sherrington R, Rogaeva EA, et al (1995) Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 376: 775-778
    • (1995) Nature , vol.376 , pp. 775-778
    • Rogaev, E.I.1    Sherrington, R.2    Rogaeva, E.A.3
  • 46
    • 0030004466 scopus 로고    scopus 로고
    • Convergence of Lewy bodies and neurofibrillary tangles in amygdala neurons of Alzheimer's disease and Lewy body disorders
    • Schmidt ML, Martin JA, Lee V M-Y, Trojanowski JQ (1996) Convergence of Lewy bodies and neurofibrillary tangles in amygdala neurons of Alzheimer's disease and Lewy body disorders. Acta Neuropathol 91: 475-481
    • (1996) Acta Neuropathol , vol.91 , pp. 475-481
    • Schmidt, M.L.1    Martin, J.A.2    Lee, V.M.-Y.3    Trojanowski, J.Q.4
  • 47
    • 0029004341 scopus 로고
    • Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
    • Sherrington R, Rogaev EI, Liang Y, et al (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375: 754-760
    • (1995) Nature , vol.375 , pp. 754-760
    • Sherrington, R.1    Rogaev, E.I.2    Liang, Y.3
  • 54
    • 0025925236 scopus 로고
    • The 717 Val to Ile substitution in amyloid precursor protein is associated with Alzheimer's disease regardless of ethnic groups
    • Yoshioka K, Miki T, Katsuya T, Ogihara T, Sakaki Y (1991) The 717 Val to Ile substitution in amyloid precursor protein is associated with Alzheimer's disease regardless of ethnic groups. Biochem Biophys Res Commun 178: 1141-1146
    • (1991) Biochem Biophys Res Commun , vol.178 , pp. 1141-1146
    • Yoshioka, K.1    Miki, T.2    Katsuya, T.3    Ogihara, T.4    Sakaki, Y.5
  • 55
    • 0027200735 scopus 로고
    • Screening of the missense mutation producing the 717 Val → Ile substitution in the amyloid precursor protein in Japanese familial and sporadic Alzheimer's disease
    • Yoshizawa T, Komatsuzaki Y, Iwamoto H, Mizusawa H, Kanazawa I (1993) Screening of the missense mutation producing the 717 Val → Ile substitution in the amyloid precursor protein in Japanese familial and sporadic Alzheimer's disease. J Neurol Sci 117: 12-15
    • (1993) J Neurol Sci , vol.117 , pp. 12-15
    • Yoshizawa, T.1    Komatsuzaki, Y.2    Iwamoto, H.3    Mizusawa, H.4    Kanazawa, I.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.