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Volumn 903, Issue , 2000, Pages 293-298

Hereditary vascular dementia linked to Notch 3 mutations. CADASIL in British families

Author keywords

[No Author keywords available]

Indexed keywords

BINSWANGER ENCEPHALOPATHY; CADASIL; CARDIOVASCULAR DISEASE; CHROMOSOME 19; CONFERENCE PAPER; FAMILIAL DISEASE; GENE LOCUS; GENE MUTATION; HUMAN; HYPERTENSION; MISSENSE MUTATION; MULTIINFARCT DEMENTIA; PATHOGENESIS; RISK FACTOR; UNITED KINGDOM;

EID: 0034114499     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2000.tb06379.x     Document Type: Conference Paper
Times cited : (19)

References (35)
  • 1
    • 0029665096 scopus 로고    scopus 로고
    • Apolipoprotein E ε4 alleles in cerebral amyloid angiopathy and cerebrovascular pathology in Alzheimer's disease
    • 1. PREMKUMAR, D.L., D. COHEN, R.P. FRIEDLAND et al. 1996. Apolipoprotein E ε4 alleles in cerebral amyloid angiopathy and cerebrovascular pathology in Alzheimer's disease. Am. J. Pathol. 148: 2083-2095.
    • (1996) Am. J. Pathol. , vol.148 , pp. 2083-2095
    • Premkumar, D.L.1    Cohen, D.2    Friedland, R.P.3
  • 2
    • 0030452414 scopus 로고    scopus 로고
    • Cerebral vessels in ageing and Alzheimer's disease
    • 2. KALARIA, R.N. 1996. Cerebral vessels in ageing and Alzheimer's disease. Pharmacol. Ther. 72: 193-214.
    • (1996) Pharmacol. Ther. , vol.72 , pp. 193-214
    • Kalaria, R.N.1
  • 3
    • 0027479304 scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
    • 3. TOURNIER-LASSERVE, E., A. JOUTEL, J. MELKI et al. 1993. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat. Genet. 3: 256-259.
    • (1993) Nat. Genet. , vol.3 , pp. 256-259
    • Tournier-Lasserve, E.1    Joutel, A.2    Melki, J.3
  • 4
    • 16044362074 scopus 로고    scopus 로고
    • Notch 3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
    • 4. JOUTEL, A., C. CORPECHOT, A. DUCROS et al. 1996. Notch 3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383: 707-710.
    • (1996) Nature , vol.383 , pp. 707-710
    • Joutel, A.1    Corpechot, C.2    Ducros, A.3
  • 5
    • 0029089247 scopus 로고
    • Clinical spectrum of CADASIL: A study of 7 families
    • 5. CHABRIAT, H., K. VAHEDI, M.T. IBA-ZIZEN et al. 1995. Clinical spectrum of CADASIL: a study of 7 families. Lancet 346: 934-939.
    • (1995) Lancet , vol.346 , pp. 934-939
    • Chabriat, H.1    Vahedi, K.2    Iba-Zizen, M.T.3
  • 6
    • 0029065542 scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)-confirmation by cerebral biopsy in 2 cases
    • 6. LAMMIE, G.A., J. RAKSHI, M.N. ROSSOR et al. 1995. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)-confirmation by cerebral biopsy in 2 cases. Clin. Neuropathol. 14: 201-206.
    • (1995) Clin. Neuropathol. , vol.14 , pp. 201-206
    • Lammie, G.A.1    Rakshi, J.2    Rossor, M.N.3
  • 7
    • 0029834598 scopus 로고    scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): A morphological study of a German family
    • 7. BERGMANN, M., M. EBKE, Y. YUAN et al. 1996. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a morphological study of a German family. Acta Neuropathol. 92: 341-350.
    • (1996) Acta Neuropathol. , vol.92 , pp. 341-350
    • Bergmann, M.1    Ebke, M.2    Yuan, Y.3
  • 8
    • 0031059371 scopus 로고    scopus 로고
    • CADASIL: Study of two American families with predominant dementia
    • 8. HEDERA, P. & R.P. FREIDLAND. 1997. CADASIL: study of two American families with predominant dementia. J. Neurol. Sci. 146: 27-33.
    • (1997) J. Neurol. Sci. , vol.146 , pp. 27-33
    • Hedera, P.1    Freidland, R.P.2
  • 9
    • 0031751315 scopus 로고    scopus 로고
    • CADASIL in a North American family: Clinical, pathologic, and radiologic findings
    • 9. DESMOND, D.W., J.T. MORONEY, T. LYNCH et al. 1998. CADASIL in a North American family: clinical, pathologic, and radiologic findings. Neurology 51: 844-899.
    • (1998) Neurology , vol.51 , pp. 844-899
    • Desmond, D.W.1    Moroney, J.T.2    Lynch, T.3
  • 10
    • 0031661678 scopus 로고    scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Neuropathological and in vitro studies of abnormal elastogenesis
    • 10. CARONTI, B., L. CALANDRIELLO, A. FRANCIA et al. 1998. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Neuropathological and in vitro studies of abnormal elastogenesis. Acta Neurol. Scand. 98: 259-267.
    • (1998) Acta Neurol. Scand. , vol.98 , pp. 259-267
    • Caronti, B.1    Calandriello, L.2    Francia, A.3
  • 11
    • 0031738054 scopus 로고    scopus 로고
    • The phenotypic spectrum of CADASIL: Clinical findings in 102 cases
    • 11. DICHGANS, M., M. MAYER, I. UTTNER et al. 1998. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann. Neurol. 44: 731-739.
    • (1998) Ann. Neurol. , vol.44 , pp. 731-739
    • Dichgans, M.1    Mayer, M.2    Uttner, I.3
  • 12
    • 0032781403 scopus 로고    scopus 로고
    • CADASIL: Hereditary disease of the arteries causing brain infarcts and dementia
    • 12. KALIMO, H., M. VIITANEN, K. AMBERLA et al. 1999. CADASIL: hereditary disease of the arteries causing brain infarcts and dementia. Neuropathol. Appl. Neurobiol. 25: 257-265.
    • (1999) Neuropathol. Appl. Neurobiol. , vol.25 , pp. 257-265
    • Kalimo, H.1    Viitanen, M.2    Amberla, K.3
  • 13
    • 0032976228 scopus 로고    scopus 로고
    • Diagnostic Notch 3 sequence analysis in CADASIL: Three new mutations in Dutch patients
    • 13. OBERSTEIN, S.A., M.D. FERRARI, E. BAKKER et al. 1999. Diagnostic Notch 3 sequence analysis in CADASIL: three new mutations in Dutch patients. Neurology 52: 1913-1915.
    • (1999) Neurology , vol.52 , pp. 1913-1915
    • Oberstein, S.A.1    Ferrari, M.D.2    Bakker, E.3
  • 14
    • 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
    • 14. KAMIMURA, K., K. TAKAHASHI, E. UYAMA et al. 1999. Identification of a Notch 3 mutation in a Japanese CADASIL family. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Alzheimer Dis. Assoc. Disord. 13: 222-225.
    • (1999) Alzheimer Dis. Assoc. Disord. , vol.13 , pp. 222-225
    • Kamimura, K.1    Takahashi, K.2    Uyama, E.3
  • 15
    • 0013640228 scopus 로고    scopus 로고
    • CADASIL in a British family: A multidisciplinary approach with NOTCH 3 mutation analysis
    • Submitted
    • 15. BLANK, C., R. LYALL, K.M.D. BUSHBY et al. 2000. CADASIL in a British family: a multidisciplinary approach with NOTCH 3 mutation analysis. Brain. Submitted.
    • (2000) Brain
    • Blank, C.1    Lyall, R.2    Bushby, K.M.D.3
  • 16
    • 0013662961 scopus 로고    scopus 로고
    • Screening British CADASIL families for mutations in NOTCH 3 gene
    • In press
    • 16. DE LANGE, R.P.J., J. BOLT, C. SCHANEN et al. 1999. Screening British CADASIL families for mutations in NOTCH 3 gene. J. Med. Genet. In press.
    • (1999) J. Med. Genet.
    • De Lange, R.P.J.1    Bolt, J.2    Schanen, C.3
  • 17
    • 0032885838 scopus 로고    scopus 로고
    • New insight into Binswanger disease
    • 17. ROMAN, G.C. 1999. New insight into Binswanger disease. Arch. Neurol. 56: 1061-1062.
    • (1999) Arch. Neurol. , vol.56 , pp. 1061-1062
    • Roman, G.C.1
  • 18
    • 0032984038 scopus 로고    scopus 로고
    • Young-adult-onset hereditary subcortical vascular dementia: Cerebral autosomal recessive arteriosclerosis with subcortical infarcts and leukoencephalopathy
    • 18. FUKUTAKE, T. 1999. Young-adult-onset hereditary subcortical vascular dementia: cerebral autosomal recessive arteriosclerosis with subcortical infarcts and leukoencephalopathy. Rinsho Shinkeigaku 39: 50-52.
    • (1999) Rinsho Shinkeigaku , vol.39 , pp. 50-52
    • Fukutake, T.1
  • 19
    • 19244375510 scopus 로고    scopus 로고
    • Autosomal dominant early onset dementia and leukoencephalopathy in a Japanese family: Clinical neuroimaging and genetic studies
    • 19. UTATSU, Y., H. TAKASHIMA, K. MICHIZONO et al. 1997. Autosomal dominant early onset dementia and leukoencephalopathy in a Japanese family: clinical neuroimaging and genetic studies. J. Neurol. Sci. 147: 55-62.
    • (1997) J. Neurol. Sci. , vol.147 , pp. 55-62
    • Utatsu, Y.1    Takashima, H.2    Michizono, K.3
  • 20
    • 0030712287 scopus 로고    scopus 로고
    • Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)
    • 20. JEN, J., A.H. COHEN, Q. YUE et al. 1997. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Neurology 49: 1322-1330.
    • (1997) Neurology , vol.49 , pp. 1322-1330
    • Jen, J.1    Cohen, A.H.2    Yue, Q.3
  • 21
    • 0017750160 scopus 로고
    • Hereditary multi-infarct dementia
    • 21. SOURANDER, P. & J. WALINDER. 1977. Hereditary multi-infarct dementia. Acta Neuropathol. 39: 247-254.
    • (1977) Acta Neuropathol. , vol.39 , pp. 247-254
    • Sourander, P.1    Walinder, J.2
  • 22
    • 0027976226 scopus 로고
    • The microvascular changes in cases of hereditary multi-infarct disease of the brain
    • 22. ZHANG, H., P. SOURANDER & Y. OLSSON. 1994. The microvascular changes in cases of hereditary multi-infarct disease of the brain. Acta Neuropathol. 87: 317-324.
    • (1994) Acta Neuropathol. , vol.87 , pp. 317-324
    • Zhang, H.1    Sourander, P.2    Olsson, Y.3
  • 23
    • 0033036190 scopus 로고    scopus 로고
    • The natural history of CADASIL. A pooled analysis of previously published cases
    • 23. DESMOND, D.W., J.T. MORONEY, T. LYNCH et al. 1999. The natural history of CADASIL. A pooled analysis of previously published cases. Stroke 30: 1230-1233.
    • (1999) Stroke , vol.30 , pp. 1230-1233
    • Desmond, D.W.1    Moroney, J.T.2    Lynch, T.3
  • 24
    • 0030949576 scopus 로고    scopus 로고
    • Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy
    • 24. MALANDRINI, A., P. CARRERA, G. CIACCI et al. 1997. Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy. Neurology 48: 1200-1203.
    • (1997) Neurology , vol.48 , pp. 1200-1203
    • Malandrini, A.1    Carrera, P.2    Ciacci, G.3
  • 25
    • 0031784085 scopus 로고    scopus 로고
    • Patterns of MRI lesions in CADASIL
    • 25. CHABRIAT, H., C. LEVY, H. TAILLIA et al. 1998. Patterns of MRI lesions in CADASIL. Neurology 51: 452-457.
    • (1998) Neurology , vol.51 , pp. 452-457
    • Chabriat, H.1    Levy, C.2    Taillia, H.3
  • 26
    • 0033499725 scopus 로고    scopus 로고
    • Characteristic MR lesion pattern and correlation of T1 and T2 lesion volume with neurologic and neuropsychological findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    • 26. YOUSRY, T.A., K. SEELOS, M. MAYER et al. 1999. Characteristic MR lesion pattern and correlation of T1 and T2 lesion volume with neurologic and neuropsychological findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Am. J. Neuroradiol. 20: 91-100.
    • (1999) Am. J. Neuroradiol. , vol.20 , pp. 91-100
    • Yousry, T.A.1    Seelos, K.2    Mayer, M.3
  • 27
    • 0033594430 scopus 로고    scopus 로고
    • Quantitative MRI in CADASIL: Correlation with disability and cognitive performance
    • 27. DICHGANS, M., M. FILIPPI, R. BRUNING et al. 1999. Quantitative MRI in CADASIL: correlation with disability and cognitive performance. Neurology 52: 1361-1367.
    • (1999) Neurology , vol.52 , pp. 1361-1367
    • Dichgans, M.1    Filippi, M.2    Bruning, R.3
  • 28
    • 0013667044 scopus 로고    scopus 로고
    • Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL
    • In press
    • 28. COULTHARD, A., S.C. BLANK, K.M.D. BUSHBY et al. 1999. Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL. Br. J. Radiol. In press.
    • (1999) Br. J. Radiol.
    • Coulthard, A.1    Blank, S.C.2    Bushby, K.M.D.3
  • 31
    • 0028113875 scopus 로고
    • Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL
    • 31. RUCHOUX, M.M., H. CHABRIAT, M.G. BOUSSER et al. 1994. Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL. Stroke 25: 2291-2292.
    • (1994) Stroke , vol.25 , pp. 2291-2292
    • Ruchoux, M.M.1    Chabriat, H.2    Bousser, M.G.3
  • 32
    • 0013682618 scopus 로고    scopus 로고
    • Cerebrospinal fluid findings in CADASIL
    • 32. DICHGANS, M., M. WICK & T. GASSER. 1999. Cerebrospinal fluid findings in CADASIL. Neurology 39: 110-112.
    • (1999) Neurology , vol.39 , pp. 110-112
    • Dichgans, M.1    Wick, M.2    Gasser, T.3
  • 33
    • 0031590602 scopus 로고    scopus 로고
    • Strong clustering and stereotyped nature of Notch 3 mutations in CADASIL patients
    • 33. JOUTEL, A., K. VAHEDI, C. CORPECHOT et al. 1997. Strong clustering and stereotyped nature of Notch 3 mutations in CADASIL patients. Lancet 350: 1511-1515.
    • (1997) Lancet , vol.350 , pp. 1511-1515
    • Joutel, A.1    Vahedi, K.2    Corpechot, C.3
  • 35
    • 0033014046 scopus 로고    scopus 로고
    • Evidence for a physical interaction between presenilin and Notch
    • 35. RAY, W.J., M. YAO, P. NOWOTNY et al. 1999. Evidence for a physical interaction between presenilin and Notch. Proc. Natl. Acad. Sci. USA 96: 3263-3268.
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 3263-3268
    • Ray, W.J.1    Yao, M.2    Nowotny, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.