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Volumn 24, Issue 7, 2001, Pages 392-400

Advances in molecular genetics and pathology of cerebrovascular disorders

Author keywords

[No Author keywords available]

Indexed keywords

ALZHEIMER DISEASE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD CLOTTING; BRAIN HEMORRHAGE; CARDIOVASCULAR FUNCTION; CEREBROVASCULAR ACCIDENT; CEREBROVASCULAR DISEASE; CLINICAL FEATURE; CONGENITAL BLOOD VESSEL MALFORMATION; DEMENTIA; DOWN SYNDROME; FAMILIAL DISEASE; GENE MUTATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; LIPID METABOLISM; MOLECULAR GENETICS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; VASCULAR AMYLOIDOSIS;

EID: 0035385932     PISSN: 01662236     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0166-2236(00)01836-1     Document Type: Review
Times cited : (54)

References (82)
  • 6
    • 0024504095 scopus 로고
    • Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin-C gene, an inhibitor of cysteine proteases
    • (1989) J. Exp. Med. , vol.169 , pp. 1771-1778
    • Levy, E.1
  • 7
    • 0029999658 scopus 로고    scopus 로고
    • The molecular pathology of hereditary cystatin C amyloid angiopathy causing brain haemorrhage
    • (1996) Brain Pathol. , vol.6 , pp. 121-126
    • Olafsson, I.1
  • 8
    • 0025296269 scopus 로고
    • Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral haemorrhage, Dutch type
    • (1990) Science , vol.248 , pp. 1124-1126
    • Levy, E.1
  • 9
    • 0026879650 scopus 로고
    • Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the -amyloid precursor protein gene
    • (1992) Nat. Genet. , vol.1 , pp. 218-221
    • Hendriks, L.1
  • 10
    • 0000378557 scopus 로고    scopus 로고
    • A novel APP mutation (E693G) - The Arctic mutation - Causing Alzheimer's disease with vascular symptoms
    • (1999) Soc. Neurosc. Abstr. , vol.25 , pp. 120
    • Nilsberth, C.1
  • 12
    • 0002353156 scopus 로고    scopus 로고
    • A novel APP mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy
    • in press
    • (2001) Ann. Neurol.
    • Grabowski, T.J.1
  • 13
    • 0025647488 scopus 로고
    • Mutation in gelsolin gene in Finnish hereditary amyloidosis
    • (1990) J. Exp. Med. , vol.172 , pp. 1865-1867
    • Levy, E.1
  • 14
    • 0033028206 scopus 로고    scopus 로고
    • Gelsolin-related spinal and cerebral amyloid angiopathy
    • (1999) Ann. Neurol. , vol.45 , pp. 305-311
    • Kiuru, S.1
  • 15
    • 0030040173 scopus 로고    scopus 로고
    • Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD18G)
    • (1996) Am. J. Pathol. , vol.148 , pp. 361-366
    • Vidal, R.1
  • 16
    • 0031055128 scopus 로고    scopus 로고
    • Transthyretin amyloidosis: A new mutation associated with dementia
    • (1997) Ann. Neurol. , vol.41 , pp. 307-313
    • Petersen, R.1
  • 17
    • 13344295093 scopus 로고    scopus 로고
    • Vascular variant of prion protein cerebral amyloidosis with tau positive neurofibrillary tangles: The phenotype of the stop codon 145 mutation in PRNP
    • (1996) Proc. Natl. Acad. Sci. U. S. A. , vol.93 , pp. 744-748
    • Ghetti, B.1
  • 18
    • 0033600228 scopus 로고    scopus 로고
    • A stop-codon mutation in the BRI gene associated with familial British dementia
    • (1999) Nature , vol.399 , pp. 776-780
    • Vidal, R.1
  • 19
    • 0034712749 scopus 로고    scopus 로고
    • A decamper duplication in the 3′ region of the BRI gene originates a new amyloid peptide that is associated with dementia in a Danish kindred
    • (2000) Proc. Natl. Acad. Sci. U. S. A. , vol.97 , pp. 4920-4925
    • Vidal, R.1
  • 21
    • 0032823830 scopus 로고    scopus 로고
    • Hereditary cerebral haemorrhage with amyloidosis - Dutch type (HCHWA-D): A review of the variety in phenotypic expression
    • (1999) Amyloid , vol.6 , pp. 215-224
    • Bornebroek, M.1
  • 22
    • 0034099649 scopus 로고    scopus 로고
    • Association between severe cerebral amyloid angiopathy and cerebrovascular lesions in Alzheimer disease is not a spurious one attributable to apolipoprotein E4
    • (2000) Arch. Neurol. , vol.57 , pp. 869-874
    • Olichney, J.M.1
  • 23
    • 0033804862 scopus 로고    scopus 로고
    • Cerebral beta amyloid angiopathy is a risk factor for cerebral ischemic infarction. A case control study in human brain biopsies
    • (2000) J. Neuropathol. Exp. Neurol. , vol.59 , pp. 768-773
    • Cadavid, D.1
  • 24
    • 0034091707 scopus 로고    scopus 로고
    • Behavioral disturbances without amyloid deposits in mice overexpressing human amyloid precursor protein with Flemish (A692G) or Dutch (E693Q) mutation
    • (2000) Neurobiol. Dis. , vol.7 , pp. 9-22
    • Kumar-Singh, S.1
  • 25
    • 0003164955 scopus 로고    scopus 로고
    • Substitutions at codon 22 of Alzheimer's A{beta} peptide induce conformational changes and diverse apoptotic effects in human cerebral endothelial cells
    • (2000) J. Biol. Chem. , vol.280 , pp. 1345-1352
    • Miravalle, L.1
  • 26
    • 0034101436 scopus 로고    scopus 로고
    • Cerebrovascular smooth muscle cell surface fibrillar Aβ: Alteration of the proteolytic environment in the cerebral vessel wall
    • Vascular factors in Alzheimer's disease (Kalaria, R.N. and Ince, P., eds)
    • (2000) Ann. New York Acad. Sci. , vol.903 , pp. 89-96
    • Van Norstrand, W.1
  • 28
    • 0030024170 scopus 로고    scopus 로고
    • Production and increased detection of amyloid β-protein and amyloidogenic fragments in brain microvessels, meningeal vessels and choroid plexus in Alzheimer disease
    • (1996) Mol. Brain Res. , vol.35 , pp. 58-68
    • Kalaria, R.N.1
  • 31
    • 0033809909 scopus 로고    scopus 로고
    • Prominent cerebral amyloid angiopathy in transgenic mice overexpressing the London mutant of human APP in neurons
    • (2000) Am. J. Pathol. , vol.157 , pp. 1283-1298
    • Van Dorpe, J.1
  • 32
    • 0035282982 scopus 로고    scopus 로고
    • Spontaneous hemorrhagic stroke in a mouse model of cerebral amyloid angiopathy
    • (2001) J. Neurosci. , vol.21 , pp. 1619-1627
    • Winkler, D.T.1
  • 33
    • 0031722421 scopus 로고    scopus 로고
    • Pathology of cerebrospinal fluid and interstitial fluid of the CNS: Significance for Alzheimer's disease, prion disorders and multiple sclerosis
    • (1998) J. Neuropathol. Exp. Neurol. , vol.57 , pp. 885-894
    • Weller, R.O.1
  • 34
    • 0030919727 scopus 로고    scopus 로고
    • Dutch hereditary cerebral amyloid angiopathy: Structural lesions and apolipoprotein E genotype
    • (1997) Ann. Neurol. , vol.41 , pp. 695-698
    • Bornebroek, M.1
  • 35
    • 0034123538 scopus 로고    scopus 로고
    • Apolipoprotein E facilitates neuritic and cerebrovascular plaque formation in an Alzheimer's disease model
    • (2000) Ann. Neurol. , vol.47 , pp. 739-747
    • Holtzman, D.M.1
  • 36
    • 0028991404 scopus 로고
    • Apolipoprotein E- ε4 and cerebral hemorrhage associated with amyloid angiopathy
    • (1995) Ann. Neurol. , vol.38 , pp. 254-259
    • Greenberg, S.1
  • 37
    • 0029665096 scopus 로고    scopus 로고
    • Apolipoprotein E ε4 alleles in cerebral amyloid angiopathy and cerebrovascular pathology in Alzheimer's disease
    • (1996) Am. J. Pathol. , vol.148 , pp. 2083-2095
    • Premkumar, D.L.1
  • 38
    • 0034041324 scopus 로고    scopus 로고
    • Senile dementia associated with amyloid beta protein angiopathy and tau perivascular pathology but not neuritic plaques in patients homozygous for the APOE-epsilon 4 allele
    • (2000) Acta Neuropathol. (Berl.) , vol.100 , pp. 1-12
    • Vidal, R.1
  • 40
    • 0031947446 scopus 로고    scopus 로고
    • Association of apolipoprotein E ε2 allele and vasculopathy in cerebral amyloid angiopathy
    • (1998) Neurology , vol.50 , pp. 961-965
    • Greenberg, S.1
  • 42
    • 0031408002 scopus 로고    scopus 로고
    • Polymorphism of angiotensin converting enzyme, angiotensinogen, and apolipoprotein E genes in a Japanese population with cerebrovascular disease
    • (1997) Am. J. Hypertens. , vol.1 , pp. 1391-1395
    • Nakata, Y.1
  • 44
    • 0032874367 scopus 로고    scopus 로고
    • APOE genotype as a risk factor for ischemic cerebrovascular disease: A meta-analysis
    • (1999) Neurology , vol.53 , pp. 1308-1311
    • McCarron, M.O.1
  • 45
    • 0028167816 scopus 로고
    • Apolipoprotein E ε4 allele in Alzheimer's disease and vascular dementia
    • (1994) Dementia , vol.5 , pp. 240-242
    • Frisoni, G.B.1
  • 46
    • 0030481880 scopus 로고    scopus 로고
    • The apolipoprotein E gene in Binswanger's disease and vascular dementia
    • (1996) Clin. Genet. , vol.5 , pp. 459-461
    • Higuchi, S.1
  • 47
    • 0034075368 scopus 로고    scopus 로고
    • Age-dependent association of apolipoprotein E genotypes with stroke subtypes in Japanese rural population
    • (2000) Stroke , vol.6 , pp. 1299-1306
    • Kokubo, Y.1
  • 49
    • 0032692882 scopus 로고    scopus 로고
    • The effect of APOE on dementia is not through atherosclerosis: The Rotterdam Study
    • (1999) Neurology , vol.53 , pp. 1593-1595
    • Slooter, A.J.1
  • 51
    • 19244375510 scopus 로고    scopus 로고
    • Autosomal dominant early onset dementia and leukoencephalopathy in a Japanese family: Clinical neuroimaging and genetic studies
    • (1997) J. Neurol. Sci. , vol.147 , pp. 55-62
    • Utatsu, Y.1
  • 52
    • 0023923348 scopus 로고
    • Cerebroretinal vasculopathy. A new hereditary syndrome
    • (1988) Ophthalmology , vol.95 , pp. 649-658
    • Grand, M.1
  • 54
    • 0033546629 scopus 로고    scopus 로고
    • Cerebroretinal vasculopathy mimicking a brain tumor: A case of a rare hereditary syndrome
    • (1999) Neurology , vol.53 , pp. 629-631
    • Weil, S.1
  • 55
    • 0030712287 scopus 로고    scopus 로고
    • Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)
    • (1997) Neurology , vol.49 , pp. 1322-1330
    • Jen, J.1
  • 56
  • 57
    • 0006954274 scopus 로고    scopus 로고
    • Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25
    • (2000) Stroke , vol.31 , pp. 930-935
    • Yamauchi, T.1
  • 59
    • 0029089247 scopus 로고
    • Clinical spectrum of CADASIL: A study of 7 families
    • (1995) Lancet , vol.346 , pp. 934-939
    • Chabriat, H.1
  • 62
    • 0017782948 scopus 로고
    • Chronic familial vascular encephalopathy
    • (1977) Lancet , vol.1 , pp. 1364-1365
    • Stevens, D.1
  • 63
    • 0027976226 scopus 로고
    • The microvascular changes in cases of hereditary multi-infarct disease of the brain
    • (1994) Acta Neuropath. , vol.87 , pp. 317-324
    • Zhang, H.1
  • 67
    • 17644438177 scopus 로고    scopus 로고
    • The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
    • (2000) J. Clin. Invest. , vol.105 , pp. 597-605
    • Joutel, A.1
  • 68
    • 16044362074 scopus 로고    scopus 로고
    • Notch 3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
    • (1996) Nature , vol.383 , pp. 707-710
    • Joutel, A.1
  • 69
    • 0031590602 scopus 로고    scopus 로고
    • Strong clustering and stereotyped nature of notch3 mutations in CADASIL patients
    • (1997) Lancet , vol.350 , pp. 1511-1515
    • Joutel, A.1
  • 71
    • 0033429146 scopus 로고    scopus 로고
    • Identification of a Notch 3 mutation in a Japanese CADASIL family. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • (1999) Alzheimer's Dis. Assoc. Disord. , vol.13 , pp. 222-225
    • Kamimura, K.1
  • 72
    • 0034530274 scopus 로고    scopus 로고
    • Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content
    • (2000) Hum. Mutation , vol.16 , pp. 518-526
    • Escary, J.L.1
  • 73
    • 0034624904 scopus 로고    scopus 로고
    • Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
    • (2000) Neurology , vol.9 , pp. 1874-1875
    • Joutel, A.1
  • 74
    • 0034034483 scopus 로고    scopus 로고
    • Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch 3 EGF-like repeat domains
    • (2000) Eur. J. Hum. Genet. , vol.4 , pp. 280-285
    • Dichgans, M.1
  • 75
  • 78
    • 0034701244 scopus 로고    scopus 로고
    • Expression analysis of endoglin missense and truncation mutations: Insights into protein structure and disease mechanisms
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 745-755
    • Lux, A.1
  • 79
    • 0033358584 scopus 로고    scopus 로고
    • Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1561-1571
    • Watnick, T.1
  • 80
    • 0033937246 scopus 로고    scopus 로고
    • The ACE I allele is associated with increased risk for ruptured intracranial aneurysms
    • (2000) J. Med. Genet. , vol.37 , pp. 498-500
    • Keramatipour, M.1
  • 81
    • 0032695959 scopus 로고    scopus 로고
    • Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 2325-2333
    • Sahoo, T.1
  • 82
    • 0034061825 scopus 로고    scopus 로고
    • Mutations in KRIT1 in familial cerebral cavernous malformations
    • (2000) Neurosurgery , vol.46 , pp. 1272-1277
    • Zhang, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.