메뉴 건너뛰기




Volumn 130, Issue 2, 2007, Pages 357-367

Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL

Author keywords

CADASIL; Genetics; Multi infarct dementia; NOTCH3; Vascular dementia

Indexed keywords

COLLAGEN TYPE 4; NOTCH3 RECEPTOR;

EID: 33846631327     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awl360     Document Type: Article
Times cited : (49)

References (39)
  • 1
    • 0029089247 scopus 로고
    • Clinical spectrum of CADASIL: A study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG, et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet 1995; 346: 934-9.
    • (1995) Lancet , vol.346 , pp. 934-939
    • Chabriat, H.1    Vahedi, K.2    Iba-Zizen, M.T.3    Joutel, A.4    Nibbio, A.5    Nagy, T.G.6
  • 3
    • 0035856449 scopus 로고    scopus 로고
    • NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
    • Dichgans M, Herzog J, Gasser T. NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL. Neurology 2001; 57: 1714-7.
    • (2001) Neurology , vol.57 , pp. 1714-1717
    • Dichgans, M.1    Herzog, J.2    Gasser, T.3
  • 4
    • 0344688178 scopus 로고    scopus 로고
    • Distribution pattern of Notch3 mutations suggests a gain-of-function mechanism for CADASIL
    • Donahue CP, Kosik KS. Distribution pattern of Notch3 mutations suggests a gain-of-function mechanism for CADASIL. Genomics 2004; 83: 59-65.
    • (2004) Genomics , vol.83 , pp. 59-65
    • Donahue, C.P.1    Kosik, K.S.2
  • 6
    • 0037390535 scopus 로고    scopus 로고
    • Notch signaling and inherited disease syndromes
    • Gridley T. Notch signaling and inherited disease syndromes. Hum Mol Genet 2003; 12: R9-13.
    • (2003) Hum Mol Genet , vol.12
    • Gridley, T.1
  • 7
    • 4444267368 scopus 로고    scopus 로고
    • Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL
    • Hagel C, Groden C, Niemeyer R, Stavrou D, Colmant HJ. Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL. Acta Neuropathol (Berl) 2004; 108: 231-40.
    • (2004) Acta Neuropathol (Berl) , vol.108 , pp. 231-240
    • Hagel, C.1    Groden, C.2    Niemeyer, R.3    Stavrou, D.4    Colmant, H.J.5
  • 8
    • 0033843087 scopus 로고    scopus 로고
    • Genetics and ischaemic stroke
    • Hassan A, Markus HS. Genetics and ischaemic stroke. Brain 2000; 123: 1784-812.
    • (2000) Brain , vol.123 , pp. 1784-1812
    • Hassan, A.1    Markus, H.S.2
  • 9
    • 0347989169 scopus 로고    scopus 로고
    • Heckmann JM, Low WC, de Villiers C, Rutherfoord S, Vorster A, Rao H, et al. Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease. Brain 2004; 127: 133-42.
    • Heckmann JM, Low WC, de Villiers C, Rutherfoord S, Vorster A, Rao H, et al. Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease. Brain 2004; 127: 133-42.
  • 10
    • 0030712287 scopus 로고    scopus 로고
    • Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)
    • Jen J, Cohen AH, Yue Q, Stout JT, Vinters HV, Nelson S, et al. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Neurology 1997; 49: 1322-30.
    • (1997) Neurology , vol.49 , pp. 1322-1330
    • Jen, J.1    Cohen, A.H.2    Yue, Q.3    Stout, J.T.4    Vinters, H.V.5    Nelson, S.6
  • 11
    • 16044362074 scopus 로고    scopus 로고
    • Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
    • Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996; 383: 707-10.
    • (1996) Nature , vol.383 , pp. 707-710
    • Joutel, A.1    Corpechot, C.2    Ducros, A.3    Vahedi, K.4    Chabriat, H.5    Mouton, P.6
  • 12
    • 0031590602 scopus 로고    scopus 로고
    • Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
    • Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssiere C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 1997; 350: 1511-5.
    • (1997) Lancet , vol.350 , pp. 1511-1515
    • Joutel, A.1    Vahedi, K.2    Corpechot, C.3    Troesch, A.4    Chabriat, H.5    Vayssiere, C.6
  • 13
    • 17644438177 scopus 로고    scopus 로고
    • The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
    • Joutel A, Andreux F, Gaulis S, Domenga V, Cecillon M, Battail N, et al. The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. J Clin Invest 2000a; 105: 597-605.
    • (2000) J Clin Invest , vol.105 , pp. 597-605
    • Joutel, A.1    Andreux, F.2    Gaulis, S.3    Domenga, V.4    Cecillon, M.5    Battail, N.6
  • 14
    • 0034624904 scopus 로고    scopus 로고
    • Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
    • Joutel A, Chabriat H, Vahedi K, Domenga V, Vayssiere C, Ruchoux MM, et al. Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL. Neurology 2000b; 54: 1874-5.
    • (2000) Neurology , vol.54 , pp. 1874-1875
    • Joutel, A.1    Chabriat, H.2    Vahedi, K.3    Domenga, V.4    Vayssiere, C.5    Ruchoux, M.M.6
  • 15
    • 0035894640 scopus 로고    scopus 로고
    • Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis
    • Joutel A, Favrole P, Labauge P, Chabriat H, Lescoat C, Andreux F, et al. Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. Lancet 2001; 358: 2049-51.
    • (2001) Lancet , vol.358 , pp. 2049-2051
    • Joutel, A.1    Favrole, P.2    Labauge, P.3    Chabriat, H.4    Lescoat, C.5    Andreux, F.6
  • 16
    • 0035385932 scopus 로고    scopus 로고
    • Advances in molecular genetics and pathology of cerebrovascular disorders
    • Kalaria RN. Advances in molecular genetics and pathology of cerebrovascular disorders. Trends Neurosci 2001; 24: 392-400.
    • (2001) Trends Neurosci , vol.24 , pp. 392-400
    • Kalaria, R.N.1
  • 17
    • 0028872740 scopus 로고
    • Differential degeneration of the cerebral microvasculature in Alzheimer's disease
    • Kalaria RN, Hedera P. Differential degeneration of the cerebral microvasculature in Alzheimer's disease. Neuroreport 1995; 6: 477-80.
    • (1995) Neuroreport , vol.6 , pp. 477-480
    • Kalaria, R.N.1    Hedera, P.2
  • 19
    • 0036019164 scopus 로고    scopus 로고
    • CADASIL: A common form of hereditary arteriopathy causing brain infarcts and dementia
    • Kalimo H, Ruchoux MM, Viitanen M, Kalaria RN. CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. Brain Pathol 2002; 12: 371-84.
    • (2002) Brain Pathol , vol.12 , pp. 371-384
    • Kalimo, H.1    Ruchoux, M.M.2    Viitanen, M.3    Kalaria, R.N.4
  • 20
    • 0030663431 scopus 로고    scopus 로고
    • Nonhypertensive cerebral small-vessel disease. An autopsy study
    • Lammie GA, Brannan F, Slattery J, Warlow C. Nonhypertensive cerebral small-vessel disease. An autopsy study. Stroke 1997; 28: 2222-9.
    • (1997) Stroke , vol.28 , pp. 2222-2229
    • Lammie, G.A.1    Brannan, F.2    Slattery, J.3    Warlow, C.4
  • 21
    • 19544371396 scopus 로고    scopus 로고
    • Matrix metalloproteinases and free radicals in cerebral ischemia
    • Liu JK, Rosenberg GA. Matrix metalloproteinases and free radicals in cerebral ischemia. Free Radic Biol Med 2005; 39: 71-80.
    • (2005) Free Radic Biol Med , vol.39 , pp. 71-80
    • Liu, J.K.1    Rosenberg, G.A.2
  • 22
    • 33745468582 scopus 로고    scopus 로고
    • CADASIL-causing mutations do not alter Notch3 receptor processing and activation
    • Low WC, Santa Y, Takahashi K, Tabira T, Kalaria RN. CADASIL-causing mutations do not alter Notch3 receptor processing and activation. Neuroreport 2006; 17: 945-9.
    • (2006) Neuroreport , vol.17 , pp. 945-949
    • Low, W.C.1    Santa, Y.2    Takahashi, K.3    Tabira, T.4    Kalaria, R.N.5
  • 23
    • 8744285720 scopus 로고    scopus 로고
    • Fibrosis and stenosis of the long penetrating cerebral arteries: The cause of the white matter pathology in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • Miao Q, Paloneva T, Tuominen S, Poyhonen M, Tuisku S, Viitanen M, et al. Fibrosis and stenosis of the long penetrating cerebral arteries: the cause of the white matter pathology in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Brain Pathol 2004; 14: 358-64.
    • (2004) Brain Pathol , vol.14 , pp. 358-364
    • Miao, Q.1    Paloneva, T.2    Tuominen, S.3    Poyhonen, M.4    Tuisku, S.5    Viitanen, M.6
  • 24
    • 0034920305 scopus 로고    scopus 로고
    • Ophoff RA, DeYoung J, Service SK, Joosse M, Caffo NA, Sandkuijl LA, et al. Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. Am J Hum Genet 2001; 69: 447-53.
    • Ophoff RA, DeYoung J, Service SK, Joosse M, Caffo NA, Sandkuijl LA, et al. Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. Am J Hum Genet 2001; 69: 447-53.
  • 25
  • 26
    • 22844446634 scopus 로고    scopus 로고
    • Spectrum of mutations in biopsy-proven CADASIL: Implications for diagnostic strategies
    • Peters N, Opherk C, Bergmann T, Castro M, Herzog J, Dichgans M. Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. Arch Neurol 2005; 62: 1091-4.
    • (2005) Arch Neurol , vol.62 , pp. 1091-1094
    • Peters, N.1    Opherk, C.2    Bergmann, T.3    Castro, M.4    Herzog, J.5    Dichgans, M.6
  • 27
    • 0028113875 scopus 로고
    • Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL
    • Ruchoux MM, Chabriat H, Bousser MG, Baudrimont M, Tournier-Lasserve E. Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL. Stroke 1994; 25: 2291-2.
    • (1994) Stroke , vol.25 , pp. 2291-2292
    • Ruchoux, M.M.1    Chabriat, H.2    Bousser, M.G.3    Baudrimont, M.4    Tournier-Lasserve, E.5
  • 28
    • 0029050447 scopus 로고
    • Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • Ruchoux MM, Guerouaou D, Vandenhaute B, Pruvo JP, Vermersch P, Leys D. Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol (Berl) 1995; 89: 500-12.
    • (1995) Acta Neuropathol (Berl) , vol.89 , pp. 500-512
    • Ruchoux, M.M.1    Guerouaou, D.2    Vandenhaute, B.3    Pruvo, J.P.4    Vermersch, P.5    Leys, D.6
  • 29
    • 0038278343 scopus 로고    scopus 로고
    • Genetic, clinical and pathological studies of CADASIL in Japan: A partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis
    • Santa Y, Uyama E, Chui de H, Arima M, Kotorii S, Takahashi K, et al. Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis. J Neurol Sci 2003; 212: 79-84.
    • (2003) J Neurol Sci , vol.212 , pp. 79-84
    • Santa, Y.1    Uyama, E.2    Chui de, H.3    Arima, M.4    Kotorii, S.5    Takahashi, K.6
  • 30
    • 0017750160 scopus 로고
    • Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease
    • Sourander P, Wålinder J. Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease. Acta Neuropathol (Berl) 1977; 39: 247-54.
    • (1977) Acta Neuropathol (Berl) , vol.39 , pp. 247-254
    • Sourander, P.1    Wålinder, J.2
  • 31
    • 0017782948 scopus 로고
    • Chronic familial vascular encephalopathy
    • Stevens DL, Hewlett RH, Brownell B. Chronic familial vascular encephalopathy. Lancet 1977; 1: 1364-5.
    • (1977) Lancet , vol.1 , pp. 1364-1365
    • Stevens, D.L.1    Hewlett, R.H.2    Brownell, B.3
  • 32
    • 0031907348 scopus 로고    scopus 로고
    • Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon
    • Terwindt GM, Haan J, Ophoff RA, Groenen SM, Storimans CW, Lanser JB, et al. Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon. Brain 1998; 121: 303-16.
    • (1998) Brain , vol.121 , pp. 303-316
    • Terwindt, G.M.1    Haan, J.2    Ophoff, R.A.3    Groenen, S.M.4    Storimans, C.W.5    Lanser, J.B.6
  • 33
    • 32044451032 scopus 로고    scopus 로고
    • Small artery dementia in Japan: Radiological differences between CADASIL, leukoaraiosis and Binswanger's disease
    • Tomimoto H, Ohtani R, Wakita H, Lin JX, Ihara M, Miki Y, et al. Small artery dementia in Japan: radiological differences between CADASIL, leukoaraiosis and Binswanger's disease. Dement Geriatr Cogn Disord 2006; 21: 162-9.
    • (2006) Dement Geriatr Cogn Disord , vol.21 , pp. 162-169
    • Tomimoto, H.1    Ohtani, R.2    Wakita, H.3    Lin, J.X.4    Ihara, M.5    Miki, Y.6
  • 34
    • 0027479304 scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
    • Tournier-Lasserve E, Joutel A, Melki J, Weissenbach J, Lathrop GM, Chabriat H, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet 1993; 3: 256-9.
    • (1993) Nat Genet , vol.3 , pp. 256-259
    • Tournier-Lasserve, E.1    Joutel, A.2    Melki, J.3    Weissenbach, J.4    Lathrop, G.M.5    Chabriat, H.6
  • 35
    • 0342470661 scopus 로고    scopus 로고
    • Detection of complement factor B in the cerebrospinal fluid of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy disease using two-dimensional gel electrophoresis and mass spectrometry
    • Unlu M, de Lange RP, de Silva R, Kalaria R, St Clair D. Detection of complement factor B in the cerebrospinal fluid of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy disease using two-dimensional gel electrophoresis and mass spectrometry. Neurosci Lett 2000; 282: 149-52.
    • (2000) Neurosci Lett , vol.282 , pp. 149-152
    • Unlu, M.1    de Lange, R.P.2    de Silva, R.3    Kalaria, R.4    St Clair, D.5
  • 36
    • 0037435523 scopus 로고    scopus 로고
    • Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy
    • Vahedi K, Massin P, Guichard JP, Miocque S, Polivka M, Goutieres F, et al. Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy. Neurology 2003; 60: 57-63.
    • (2003) Neurology , vol.60 , pp. 57-63
    • Vahedi, K.1    Massin, P.2    Guichard, J.P.3    Miocque, S.4    Polivka, M.5    Goutieres, F.6
  • 38
    • 0037066143 scopus 로고    scopus 로고
    • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
    • Yanagawa S, Ito N, Arima K, Ikeda S. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Neurology 2002; 58: 817-20.
    • (2002) Neurology , vol.58 , pp. 817-820
    • Yanagawa, S.1    Ito, N.2    Arima, K.3    Ikeda, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.