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Volumn 108, Issue 3, 2004, Pages 231-240

Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL

Author keywords

Hereditary; Leukoencephalopathy; Subcortical infarcts

Indexed keywords

NOTCH3 RECEPTOR;

EID: 4444267368     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-004-0887-2     Document Type: Article
Times cited : (27)

References (49)
  • 1
    • 0000530314 scopus 로고
    • Seelenstörung auf arteriosclerotischer Grundlage
    • Alzheimer A (1902) Seelenstörung auf arteriosclerotischer Grundlage. Z Psychiat 59:695-711
    • (1902) Z. Psychiat. , vol.59 , pp. 695-711
    • Alzheimer, A.1
  • 3
    • 0001057279 scopus 로고
    • Die Abgrenzung der allgemeinen progressiven Paralyse
    • 1103-1105, 1137-1139
    • Binswanger O (1894) Die Abgrenzung der allgemeinen progressiven Paralyse. Berl Klin Wochenschr 31:1103-1105, 1137-1139, 1180-1186
    • (1894) Berl. Klin. Wochenschr. , vol.31 , pp. 1180-1186
    • Binswanger, O.1
  • 4
    • 0000399828 scopus 로고
    • Encéphalopathie sous corticale progressive (Binswanger): Évolution rapide chez deux soeurs
    • Bogaert L van (1955) Encéphalopathie sous corticale progressive (Binswanger): évolution rapide chez deux soeurs. Ellenikä Iatrikä 24:961-972
    • (1955) Ellenikä Iatrikä , vol.24 , pp. 961-972
    • van Bogaert, L.1
  • 5
    • 0028156770 scopus 로고
    • Summary of the proceedings of the first international workshop on CADASIL
    • Bousser MG, Tournier-Lasserve E (1993) Summary of the proceedings of the first international workshop on CADASIL. Stroke 25:704-707
    • (1993) Stroke , vol.25 , pp. 704-707
    • Bousser, M.G.1    Tournier-Lasserve, E.2
  • 6
    • 0028527209 scopus 로고
    • Fabry's disease in a female carrier with bilateral thalamic infarcts: A case report and a family study
    • Castro LH, Monteiro ML, Barbosa ER, Scaff M, Canelas HM (1994) Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study. Rev Paul Med 112:649-653
    • (1994) Rev. Paul Med. , vol.112 , pp. 649-653
    • Castro, L.H.1    Monteiro, M.L.2    Barbosa, E.R.3    Scaff, M.4    Canelas, H.M.5
  • 8
    • 0000255349 scopus 로고
    • Familiäre zerebrale Gefässerkrankung. Jahrestagung der Deutschen Gesellschaft für Neuropathologie 23.-25.Oktober 1978
    • Colmant HJ (1980) Familiäre zerebrale Gefässerkrankung. Jahrestagung der Deutschen Gesellschaft für Neuropathologie 23.-25.Oktober 1978. Zentralbl Allg Pathol 124:163
    • (1980) Zentralbl Allg. Pathol. , vol.124 , pp. 163
    • Colmant, H.J.1
  • 11
    • 0031833058 scopus 로고    scopus 로고
    • CADASIL: A review with proposed diagnostic criteria
    • Davous P (1998) CADASIL: a review with proposed diagnostic criteria. Eur J Neurol 5:219-233
    • (1998) Eur. J. Neurol. , vol.5 , pp. 219-233
    • Davous, P.1
  • 12
    • 0025735586 scopus 로고
    • Démence sous-corticale familiale avec leucoencéphalopthie artériopathique: Observation clinico-pathologique
    • Davous P, Fallet-Bianco C (1991) Démence sous-corticale familiale avec leucoencéphalopthie artériopathique: observation clinico-pathologique. Rev Neurol (Paris) 147:376-384
    • (1991) Rev. Neurol. (Paris) , vol.147 , pp. 376-384
    • Davous, P.1    Fallet-Bianco, C.2
  • 13
    • 0034034483 scopus 로고    scopus 로고
    • Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains
    • Dichgans M, Ludwig H, Muller-Hocker J, Messerschmidt A, Gasser T (2000) Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains. Eur J Hum Genet 8:280-285
    • (2000) Eur. J. Hum. Genet. , vol.8 , pp. 280-285
    • Dichgans, M.1    Ludwig, H.2    Muller-Hocker, J.3    Messerschmidt, A.4    Gasser, T.5
  • 15
    • 0030931256 scopus 로고    scopus 로고
    • Characteristic morphologic manifestation of CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, in skeletal muscle and skin
    • Goebel HH, Meyermann R, Rosin R, Schlote W (1997) Characteristic morphologic manifestation of CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, in skeletal muscle and skin. Muscle Nerve 20:625-627
    • (1997) Muscle Nerve , vol.20 , pp. 625-627
    • Goebel, H.H.1    Meyermann, R.2    Rosin, R.3    Schlote, W.4
  • 17
    • 0031059371 scopus 로고    scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Study of two American families with predominant dementia
    • Hedera P, Friedland RP (1997) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: 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    Friedland, R.P.2
  • 18
    • 34250546630 scopus 로고
    • Progressive subcorticale vasculäre Encephalopathie Binswanger. Eine klinisch-neuropathologische Studie
    • Jellinger K, Neumayer E (1964) Progressive subcorticale vasculäre Encephalopathie Binswanger. Eine klinisch-neuropathologische Studie. Arch Psychiatr Z Neurol 205:523-554
    • (1964) Arch. Psychiatr. Z. Neurol. , vol.205 , pp. 523-554
    • Jellinger, K.1    Neumayer, E.2
  • 22
    • 0023786592 scopus 로고
    • Risk of brain infarction in familial hypercholesterolemia
    • Kaste M, Koivisto P (1988) Risk of brain infarction in familial hypercholesterolemia. Stroke 19:1097-1100
    • (1988) Stroke , vol.19 , pp. 1097-1100
    • Kaste, M.1    Koivisto, P.2
  • 23
    • 0029065542 scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) - Confirmation by cerebral biopsy in 2 cases
    • Lammie GA, Rakshi J, Rossor MN, Harding AE, Scaravilli F (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    Harding, A.E.4    Scaravilli, F.5
  • 24
    • 0020026639 scopus 로고
    • Subcortical arteriosclerotic encephalopathy (Binswanger's type) and cortical infarcts in a young normotensive patient
    • Loizou LA, Jefferson JM, Smith WT (1982) Subcortical arteriosclerotic encephalopathy (Binswanger's type) and cortical infarcts in a young normotensive patient. J Neurol Neurosurg Psychiatry 45:409-417
    • (1982) J. Neurol. Neurosurg. Psychiatry , vol.45 , pp. 409-417
    • Loizou, L.A.1    Jefferson, J.M.2    Smith, W.T.3
  • 25
    • 0026519463 scopus 로고
    • Binswanger's disease in the absence of chronic arterial hypertension. A case report with clinical, radiological and immunohistochemical observations on intracerebral blood vessels
    • Ma KC, Lundberg PO, Lilja A, Olsson Y (1992) Binswanger's disease in the absence of chronic arterial hypertension. A case report with clinical, radiological and immunohistochemical observations on intracerebral blood vessels. Acta Neuropathol 83:434-439
    • (1992) Acta Neuropathol. , vol.83 , pp. 434-439
    • Ma, K.C.1    Lundberg, P.O.2    Lilja, A.3    Olsson, Y.4
  • 27
    • 0000363006 scopus 로고
    • Disorders of transsulfuration
    • Schriver CF, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Mudd SH, Levy HL, Skovby F (1989) Disorders of transsulfuration. In: Schriver CF, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 693-734
    • (1989) The Metabolic Basis of Inherited Disease , pp. 693-734
    • Mudd, S.H.1    Levy, H.L.2    Skovby, F.3
  • 29
    • 73849175819 scopus 로고
    • Subcortical arteriosclerotic encephalopathy. Review of the literature on the Binswanger's disease and presentation of two cases
    • Olszewski J (1962) Subcortical arteriosclerotic encephalopathy. Review of the literature on the Binswanger's disease and presentation of two cases. World Neurol 3:359-375
    • (1962) World Neurol. , vol.3 , pp. 359-375
    • Olszewski, J.1
  • 30
    • 0015084532 scopus 로고
    • The brain in hereditary hemorrhagic telangiectasia
    • Reagan TJ, Bloom WH (1971) The brain in hereditary hemorrhagic telangiectasia. Stroke 2:361-368
    • (1971) Stroke , vol.2 , pp. 361-368
    • Reagan, T.J.1    Bloom, W.H.2
  • 31
    • 0033020508 scopus 로고    scopus 로고
    • Mechanisms underlying increased platelet reactivity in patients with peripheral arterial disease. Preliminary results
    • Reininger CB, Boeger CA, Steckmeier B, Spannagl M, Scweiberer L (1999) Mechanisms underlying increased platelet reactivity in patients with peripheral arterial disease. Preliminary results. Int Angiol 18:163-170
    • (1999) Int. Angiol. , vol.18 , pp. 163-170
    • Reininger, C.B.1    Boeger, C.A.2    Steckmeier, B.3    Spannagl, M.4    Scweiberer, L.5
  • 32
    • 4444321183 scopus 로고
    • Contractile elements of human brain vessels in chronic hypertension
    • Cervós-Navarro J, Fritschka E (eds) Raven Press, New York
    • Roggendorf W, Cervós-Navarro J, Iglesias Rozas JR (1979) Contractile elements of human brain vessels in chronic hypertension. In: Cervós-Navarro J, Fritschka E (eds) Cerebral microcirculation and metabolism. Raven Press, New York, pp 443-453
    • (1979) Cerebral Microcirculation and Metabolism , pp. 443-453
    • Roggendorf, W.1    Cervós-Navarro, J.2    Iglesias Rozas, J.R.3
  • 33
    • 0030884876 scopus 로고    scopus 로고
    • CADASIL. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • Ruchoux MM, Maurage CA (1997) CADASIL. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neuropathol Exp Neurol 56:947-964
    • (1997) J. Neuropathol. Exp. Neurol. , vol.56 , pp. 947-964
    • Ruchoux, M.M.1    Maurage, C.A.2
  • 34
    • 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 (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    Baudrimont, M.4    Tournier-Lasserve, E.5
  • 35
    • 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 (1995) Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol 89:500-512
    • (1995) Acta Neuropathol. , 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
  • 36
    • 0028943944 scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Clinical, neuroimaging, pathological and genetic study of a large Italian family
    • Sabbadini G, Francia A, Calandriello L, Di Biasi C, Trasimeni G, Gualdi GF, Palladini G, Manfredi M, Frontali M (1995) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Clinical, neuroimaging, pathological and genetic study of a large Italian family. Brain 118:207-215
    • (1995) Brain , vol.118 , pp. 207-215
    • Sabbadini, G.1    Francia, A.2    Calandriello, L.3    Di Biasi, C.4    Trasimeni, G.5    Gualdi, G.F.6    Palladini, G.7    Manfredi, M.8    Frontali, M.9
  • 37
    • 0028872678 scopus 로고
    • Identification of the characteristic vascular changes in a sural nerve biopsy of a case with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    • Schröder JM, Sellhaus B, Jorg J (1995) Identification of the characteristic vascular changes in a sural nerve biopsy of a case with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Acta Neuropathol 89:116-121
    • (1995) Acta Neuropathol. , vol.89 , pp. 116-121
    • Schröder, J.M.1    Sellhaus, B.2    Jorg, J.3
  • 38
    • 0017750160 scopus 로고
    • Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease
    • Sourander P, Walinder J (1977) Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease. Acta Neuropathol (Berl) 39:247-254
    • (1977) Acta Neuropathol. (Berl) , vol.39 , pp. 247-254
    • Sourander, P.1    Walinder, J.2
  • 39
    • 4444280182 scopus 로고
    • Klinische, licht- und elektronenmikroskopische Untersuchungen bei Binswangerscher Krankheit
    • 7 Müller Ch, Wertheimer J (eds) Gerontopyschiatrie
    • Spittler JF, Reinhardt V, Gerhard L, Ess Th (1979) Klinische, licht- und elektronenmikroskopische Untersuchungen bei Binswangerscher Krankheit. In: Müller Ch, Wertheimer J (eds) Gerontopyschiatrie 7. Janssen Pharmaceutica, pp 171-174
    • (1979) Janssen Pharmaceutica , pp. 171-174
    • Spittler, J.F.1    Reinhardt, V.2    Gerhard, L.3    Ess, T.H.4
  • 40
    • 0030678090 scopus 로고    scopus 로고
    • Mechanisms of infarction in the superficial posterior cerebral artery territory
    • Steinke W, Mangold J, Schwartz A, Hennerici M (1997) Mechanisms of infarction in the superficial posterior cerebral artery territory. J Neurol 244:571-578
    • (1997) J. Neurol. , vol.244 , pp. 571-578
    • Steinke, W.1    Mangold, J.2    Schwartz, A.3    Hennerici, M.4
  • 41
    • 0017782948 scopus 로고
    • Chronic familial vascular encephalopathy
    • Stevens DL, Hewlett RH, Brownell B (1977) Chronic familial vascular encephalopathy. Lancet I:1364-1365
    • (1977) Lancet , vol.1 , pp. 1364-1365
    • Stevens, D.L.1    Hewlett, R.H.2    Brownell, B.3
  • 42
    • 0025947095 scopus 로고
    • Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy
    • Tournier-Lasserve E, Iba-Zizen MT, Romero N, Bousser MG (1991) Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy. Stroke 22:1297-1302
    • (1991) Stroke , vol.22 , pp. 1297-1302
    • Tournier-Lasserve, E.1    Iba-Zizen, M.T.2    Romero, N.3    Bousser, M.G.4
  • 46
    • 0023147465 scopus 로고
    • Subcortical vascular encephalopathy in a normotensive, young adult with premature baldness and spondylitis deformans. A clinicopathological study and review of the literature
    • Yamamura T, Nishimura M, Shirabe T, Fujita M (1987) Subcortical vascular encephalopathy in a normotensive, young adult with premature baldness and spondylitis deformans. A clinicopathological study and review of the literature. J Neurol Sci 78:175-187
    • (1987) J. Neurol. Sci. , vol.78 , pp. 175-187
    • Yamamura, T.1    Nishimura, M.2    Shirabe, T.3    Fujita, M.4
  • 47
    • 0022363706 scopus 로고
    • Chronic progressive leukoencephalopathy with systemic arteriosclerosis in young adults
    • Yokoi S, Nakayama H (1985) Chronic progressive leukoencephalopathy with systemic arteriosclerosis in young adults. Clin Neuropathol 4:165-173
    • (1985) Clin. Neuropathol. , vol.4 , pp. 165-173
    • Yokoi, S.1    Nakayama, H.2
  • 48
    • 0031042047 scopus 로고    scopus 로고
    • The angiopathy of subcortical arteriosclerotic encephalopathy (Binswanger's disease): Immunohistochemical studies using markers for components of extracellular matrix, smooth muscle actin and endothelial cells
    • Zhang WW, Olsson Y (1997) The angiopathy of subcortical arteriosclerotic encephalopathy (Binswanger's disease): immunohistochemical studies using markers for components of extracellular matrix, smooth muscle actin and endothelial cells. Acta Neuropathol 93:219-224
    • (1997) Acta Neuropathol. , vol.93 , pp. 219-224
    • Zhang, W.W.1    Olsson, Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.