메뉴 건너뛰기




Volumn 27, Issue 10, 2007, Pages 1649-1662

Monogenic vessel diseases related to ischemic stroke: A clinical approach

Author keywords

Cerebrovascular abnormalities; Monogenic; Single gene; Stroke

Indexed keywords

ARTERIOSCLEROSIS; ARTERY DISEASE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BRAIN INFARCTION; CEREBROVASCULAR ACCIDENT; DIAGNOSTIC PROCEDURE; DISEASE CLASSIFICATION; EHLERS DANLOS SYNDROME; ENDOTHELIAL DYSFUNCTION; FABRY DISEASE; GENETIC DISORDER; HUMAN; INHERITANCE; KIDNEY DISEASE; LEUKOENCEPHALOPATHY; MARFAN SYNDROME; MONOGENIC DISORDER; MOYAMOYA DISEASE; NEUROFIBROMATOSIS; PHENOTYPE; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; RETINOPATHY; REVIEW; STROKE;

EID: 34748820096     PISSN: 0271678X     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.jcbfm.9600520     Document Type: Review
Times cited : (35)

References (122)
  • 1
    • 0346847505 scopus 로고    scopus 로고
    • Cerebral arterial pathology of CADASIL and CARASIL. (Maeda syndrome)
    • Arima K, Yanagawa S, Ito N, Ikeda S (2003) Cerebral arterial pathology of CADASIL and CARASIL. (Maeda syndrome). Neuropathology 23:327-34
    • (2003) Neuropathology , vol.23 , pp. 327-334
    • Arima, K.1    Yanagawa, S.2    Ito, N.3    Ikeda, S.4
  • 3
    • 0030710516 scopus 로고    scopus 로고
    • Clinical and neuroradiological findings of Moyamoya disease in Italy
    • Battistella PA, Carollo C (1997) Clinical and neuroradiological findings of Moyamoya disease in Italy. Clin Neurol Neurosurg 99:S54-7
    • (1997) Clin Neurol Neurosurg , vol.99
    • Battistella, P.A.1    Carollo, C.2
  • 4
    • 0032574641 scopus 로고    scopus 로고
    • Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997 Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)
    • Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ (1998) Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997 Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 77:31-7
    • (1998) Am J Med Genet , vol.77 , pp. 31-37
    • Beighton, P.1    De Paepe, A.2    Steinmann, B.3    Tsipouras, P.4    Wenstrup, R.J.5
  • 9
    • 0014102272 scopus 로고
    • Enzymatic abnormalities in diseases of sphingolipid metabolism
    • Brady RO (1967) Enzymatic abnormalities in diseases of sphingolipid metabolism. Clin Chem 13:565-77
    • (1967) Clin Chem , vol.13 , pp. 565-577
    • Brady, R.O.1
  • 11
    • 0036942727 scopus 로고    scopus 로고
    • Morphometric analysis of ultrastructural vascular change in CADASIL: Analysis of 50 skin biopsy specimens and pathogenic implications
    • Brulin P, Godfraind C, Leteurtre E, Ruchoux MM (2002) Morphometric analysis of ultrastructural vascular change in CADASIL: analysis of 50 skin biopsy specimens and pathogenic implications. Acta Neuropathol 104:241-8
    • (2002) Acta Neuropathol , vol.104 , pp. 241-248
    • Brulin, P.1    Godfraind, C.2    Leteurtre, E.3    Ruchoux, M.M.4
  • 13
    • 0034569343 scopus 로고    scopus 로고
    • CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): Clinical features and neuroimaging
    • Chabriat H, Joutel A, Vahedi K, Iba-Zizen MT, Tournier-Laserve E, Bousser MG (2000) CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): clinical features and neuroimaging. Bull Acad Natl Med 184:1523-31
    • (2000) Bull Acad Natl Med , vol.184 , pp. 1523-1531
    • Chabriat, H.1    Joutel, A.2    Vahedi, K.3    Iba-Zizen, M.T.4    Tournier-Laserve, E.5    Bousser, M.G.6
  • 16
    • 28844498292 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: A clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
    • Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A (2005) Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 42:881-92
    • (2005) J Med Genet , vol.42 , pp. 881-892
    • Chassaing, N.1    Martin, L.2    Calvas, P.3    Le Bert, M.4    Hovnanian, A.5
  • 18
    • 18644369123 scopus 로고    scopus 로고
    • Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome
    • Cohn AC, Kotschet K, Veitch A, Delatycki MB, McCombe MF (2005) Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome. Clin Experiment Ophthalmol 33:181-3
    • (2005) Clin Experiment Ophthalmol , vol.33 , pp. 181-183
    • Cohn, A.C.1    Kotschet, K.2    Veitch, A.3    Delatycki, M.B.4    McCombe, M.F.5
  • 19
    • 0032788004 scopus 로고    scopus 로고
    • Marfan syndrome is not associated with intracranial aneurysms
    • Conway JE, Hutchins GM, Tamargo RJ (1999) Marfan syndrome is not associated with intracranial aneurysms. Stroke 308:1632-6
    • (1999) Stroke , vol.308 , pp. 1632-1636
    • Conway, J.E.1    Hutchins, G.M.2    Tamargo, R.J.3
  • 22
    • 0026603826 scopus 로고
    • The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes
    • Daston MM, Scrable H, Nordlund M, Sturbaum AK, Nissen LM, Ratner N (1992) The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. Neuron 8:415-28
    • (1992) Neuron , vol.8 , pp. 415-428
    • Daston, M.M.1    Scrable, H.2    Nordlund, M.3    Sturbaum, A.K.4    Nissen, L.M.5    Ratner, N.6
  • 23
    • 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 5:219-33
    • (1998) Eur J Neurol , vol.5 , pp. 219-233
    • Davous, P.1
  • 25
    • 10344257996 scopus 로고    scopus 로고
    • Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders
    • De Paepe A, Malfait F (2004) Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. Br J Haematol 127:491-500
    • (2004) Br J Haematol , vol.127 , pp. 491-500
    • De Paepe, A.1    Malfait, F.2
  • 27
    • 0037452544 scopus 로고    scopus 로고
    • Fabry disease, an underrecognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
    • Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M et al. (2003) Fabry disease, an underrecognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138:338-46
    • (2003) Ann Intern Med , vol.138 , pp. 338-346
    • Desnick, R.J.1    Brady, R.2    Barranger, J.3    Collins, A.J.4    Germain, D.P.5    Goldman, M.6
  • 28
    • 0000889058 scopus 로고    scopus 로고
    • α-Galactosidase A deficiency: Fabry disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds, 8th edn, New York: McGraw-Hill
    • Desnick RJ, Joannou YA, Eng CM (2001) α-Galactosidase A deficiency: Fabry disease. In: The metabolic and molecular bases of inherited disease (Scriver CR, Beaudet AL, Sly WS, Valle D, eds), 8th edn, New York: McGraw-Hill, 37-74
    • (2001) The metabolic and molecular bases of inherited disease , pp. 37-74
    • Desnick, R.J.1    Joannou, Y.A.2    Eng, C.M.3
  • 29
    • 0036144164 scopus 로고    scopus 로고
    • Cerebral microbleeds in CADASIL a gradient-echo magnetic resonance imaging and autopsy study
    • Dichgans M, Holtmannspotter M, Herzog J, Peter N, Bergmann M, Yousry TA (2002) Cerebral microbleeds in CADASIL a gradient-echo magnetic resonance imaging and autopsy study. Stroke 33:67-71
    • (2002) Stroke , vol.33 , pp. 67-71
    • Dichgans, M.1    Holtmannspotter, M.2    Herzog, J.3    Peter, N.4    Bergmann, M.5    Yousry, T.A.6
  • 30
    • 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 Genetics 8:280-5
    • (2000) Eur J Hum Genetics , vol.8 , pp. 280-285
    • Dichgans, M.1    Ludwig, H.2    Muller-Hocker, J.3    Messerschmidt, A.4    Gasser, T.5
  • 33
    • 0035811624 scopus 로고    scopus 로고
    • International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human (alpha)-Galactosidase A replacement therapy in Fabry's disease
    • Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S et al. (2001) International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human (alpha)-Galactosidase A replacement therapy in Fabry's disease. New Engl J Med 345:9-16
    • (2001) New Engl J Med , vol.345 , pp. 9-16
    • Eng, C.M.1    Guffon, N.2    Wilcox, W.R.3    Germain, D.P.4    Lee, P.5    Waldek, S.6
  • 34
    • 0033605484 scopus 로고    scopus 로고
    • Epidemiology of neurofibromatosis type 1
    • Friedman JM (1999) Epidemiology of neurofibromatosis type 1. Am J Med Genet 89:1-6
    • (1999) Am J Med Genet , vol.89 , pp. 1-6
    • Friedman, J.M.1
  • 35
    • 0012376721 scopus 로고    scopus 로고
    • Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force
    • Friedman JM, Arbiser J, Epstein JA, Gutmann DH, Huot SJ, Lin AE et al. (2002) Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med 4:105-11
    • (2002) Genet Med , vol.4 , pp. 105-111
    • Friedman, J.M.1    Arbiser, J.2    Epstein, J.A.3    Gutmann, D.H.4    Huot, S.J.5    Lin, A.E.6
  • 36
    • 0030715614 scopus 로고    scopus 로고
    • Fukui M, Members of the Research Committee on spontaneous Occlusion of the Circle of Willis (Moyamoya disease) of Ministry and Welfare, Japan (1997) Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis (Moyamoya' disease) of the Ministry of Healthand Welfare, Japan. Clin Neurol Neurosurg 99:S238-40
    • Fukui M, Members of the Research Committee on spontaneous Occlusion of the Circle of Willis (Moyamoya disease) of Ministry and Welfare, Japan (1997) Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis (Moyamoya' disease) of the Ministry of Healthand Welfare, Japan. Clin Neurol Neurosurg 99:S238-40
  • 37
    • 0032984038 scopus 로고    scopus 로고
    • Young-adult-onset hereditary subcortical vascular dementia: Cerebral autosomal recessive arteriosclerosis with subcortical infarcts and leukoencephalopathy (CARASIL)
    • Fukutake T (1999) Young-adult-onset hereditary subcortical vascular dementia: cerebral autosomal recessive arteriosclerosis with subcortical infarcts and leukoencephalopathy (CARASIL). Rinsho Shinkeigaku 39:50-2
    • (1999) Rinsho Shinkeigaku , vol.39 , pp. 50-52
    • Fukutake, T.1
  • 38
    • 0028905614 scopus 로고
    • Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension
    • Fukutake T, Hirayama K (1995) Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension. Eur Neurol 35:69-79
    • (1995) Eur Neurol , vol.35 , pp. 69-79
    • Fukutake, T.1    Hirayama, K.2
  • 39
    • 24344440871 scopus 로고    scopus 로고
    • Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene
    • Garzuly F, Marodi L, Erdos M, Grubits J, Varga Z, Gelpi E et al. (2005) Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene. Brain 128:2078-83
    • (2005) Brain , vol.128 , pp. 2078-2083
    • Garzuly, F.1    Marodi, L.2    Erdos, M.3    Grubits, J.4    Varga, Z.5    Gelpi, E.6
  • 40
    • 0036314742 scopus 로고    scopus 로고
    • Clinical and genetic features of vascular Ehlers-Danlos syndrome
    • Germain DP (2002) Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Vasc Surg 16:391-7
    • (2002) Ann Vasc Surg , vol.16 , pp. 391-397
    • Germain, D.P.1
  • 41
    • 18044379239 scopus 로고    scopus 로고
    • Gheduzzi D, Guidetti R, Anzivino C, Tarugi P, Di Leo E, Quaglino D et al. (2004) ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). Hum Mutat 24:438-9
    • Gheduzzi D, Guidetti R, Anzivino C, Tarugi P, Di Leo E, Quaglino D et al. (2004) ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). Hum Mutat 24:438-9
  • 43
    • 0033670127 scopus 로고    scopus 로고
    • Insights into the pathogenesis of neurofibromatosis 1 vasculopathy
    • Hamilton SJ, Friedman JM (2000) Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. Clin Genet 58:341-4
    • (2000) Clin Genet , vol.58 , pp. 341-344
    • Hamilton, S.J.1    Friedman, J.M.2
  • 44
    • 0034545428 scopus 로고    scopus 로고
    • A Co-Operative Study: Clinical characteristics of 334 korean patients with Moyamoya disease treated at neurosurgical institutes (1976 to 1994)
    • Han DH, Kwon OK, Byun BJ, Choi BY, Choi CW, Choi JU et al. (2000) A Co-Operative Study: clinical characteristics of 334 korean patients with Moyamoya disease treated at neurosurgical institutes (1976 to 1994). Acta Neurochirurgica 142:1263-74
    • (2000) Acta Neurochirurgica , vol.142 , pp. 1263-1274
    • Han, D.H.1    Kwon, O.K.2    Byun, B.J.3    Choi, B.Y.4    Choi, C.W.5    Choi, J.U.6
  • 45
    • 0033843087 scopus 로고    scopus 로고
    • Genetics and ischaemic stroke
    • Hassan A, Markus HS (2000) Genetics and ischaemic stroke. Brain 123:1784-812
    • (2000) Brain , vol.123 , pp. 1784-1812
    • Hassan, A.1    Markus, H.S.2
  • 46
    • 0037188369 scopus 로고    scopus 로고
    • Planning genetic studies in human stroke: Sample size estimates based on family history data
    • Hassan A, Sham PC, Markus HS (2002) Planning genetic studies in human stroke: sample size estimates based on family history data. Neurology 58:1483-8
    • (2002) Neurology , vol.58 , pp. 1483-1488
    • Hassan, A.1    Sham, P.C.2    Markus, H.S.3
  • 47
    • 0022613079 scopus 로고
    • Pseudoxanthoma elasticum and its urological implications
    • Heaton JP, Wilson JW (1986) Pseudoxanthoma elasticum and its urological implications. J Urol 135:776-7
    • (1986) J Urol , vol.135 , pp. 776-777
    • Heaton, J.P.1    Wilson, J.W.2
  • 48
    • 0029829803 scopus 로고    scopus 로고
    • Is unilateral Moyamoya disease different from Moyamoya disease?
    • Houkin K, Abe H, Yoshimoto T, Takahashi A (1996) Is unilateral Moyamoya disease different from Moyamoya disease? J Neurosurg 85:772-6
    • (1996) J Neurosurg , vol.85 , pp. 772-776
    • Houkin, K.1    Abe, H.2    Yoshimoto, T.3    Takahashi, A.4
  • 50
    • 0025747977 scopus 로고
    • Sistemic vascular changes in spontaneous occlusion of the circle of Willis
    • Ikeda E (1991) Sistemic vascular changes in spontaneous occlusion of the circle of Willis. Stroke 22:1358-62
    • (1991) Stroke , vol.22 , pp. 1358-1362
    • Ikeda, E.1
  • 51
  • 52
    • 0344625384 scopus 로고    scopus 로고
    • A clinical comparison of definite Moyamoya disease between South Korea and Japan
    • Ikezaki K, Han DH, Kawano T, Kinukawa N, Fukui M (1997a) A clinical comparison of definite Moyamoya disease between South Korea and Japan. Stroke 28:2513-7
    • (1997) Stroke , vol.28 , pp. 2513-2517
    • Ikezaki, K.1    Han, D.H.2    Kawano, T.3    Kinukawa, N.4    Fukui, M.5
  • 54
    • 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. (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    Stout, J.T.4    Vinters, H.V.5    Nelson, S.6
  • 55
    • 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. (2000) Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL. Neurology 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
  • 56
    • 17144459326 scopus 로고    scopus 로고
    • A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region
    • Joutel A, Ducros A, Alamowitch S, Cruaud C, Domenga V, Marechal E et al. (1996) A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region. Genomics 38:192-8
    • (1996) Genomics , vol.38 , pp. 192-198
    • Joutel, A.1    Ducros, A.2    Alamowitch, S.3    Cruaud, C.4    Domenga, V.5    Marechal, E.6
  • 57
    • 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. (2001) Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. The Lancet 358:2049-51
    • (2001) The Lancet , vol.358 , pp. 2049-2051
    • Joutel, A.1    Favrole, P.2    Labauge, P.3    Chabriat, H.4    Lescoat, C.5    Andreux, F.6
  • 58
    • 0031590602 scopus 로고    scopus 로고
    • Strong clustering and stereo-typed nature of Notch3 mutations in CADASIL patients
    • Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssiere C et al. (1997) Strong clustering and stereo-typed nature of Notch3 mutations in CADASIL patients. The Lancet 350:1511-5
    • (1997) The Lancet , vol.350 , pp. 1511-1515
    • Joutel, A.1    Vahedi, K.2    Corpechot, C.3    Troesch, A.4    Chabriat, H.5    Vayssiere, C.6
  • 59
    • 28244441145 scopus 로고    scopus 로고
    • Marfan's syndrome
    • Judge DP, Dietz HC (2005) Marfan's syndrome. Lancet 366:1965-76
    • (2005) Lancet , vol.366 , pp. 1965-1976
    • Judge, D.P.1    Dietz, H.C.2
  • 60
    • 0036266968 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Extrarenal, neurologic manifestations
    • Kolodny EH, Pastores GM (2002) Anderson-Fabry disease: extrarenal, neurologic manifestations. J Am Soc Nephrol 13:S3-150
    • (2002) J Am Soc Nephrol , vol.13
    • Kolodny, E.H.1    Pastores, G.M.2
  • 61
    • 0036897260 scopus 로고    scopus 로고
    • Clinical significance of posterior cerebral artery stenosis/occlusion in Moyamoya disease
    • Kuroda S, Ishikawa T, Houkin K, Iwasaki Y (2002) Clinical significance of posterior cerebral artery stenosis/occlusion in Moyamoya disease. No Shinkei Geka 30:1295-300
    • (2002) No Shinkei Geka , vol.30 , pp. 1295-1300
    • Kuroda, S.1    Ishikawa, T.2    Houkin, K.3    Iwasaki, Y.4
  • 62
    • 21544473871 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum
    • Laube S, Moss C (2005) Pseudoxanthoma elasticum. Arch Dis Child 90:754-6
    • (2005) Arch Dis Child , vol.90 , pp. 754-756
    • Laube, S.1    Moss, C.2
  • 63
    • 0019483940 scopus 로고
    • Fabry's disease without cutaneous angiokeratoma : Diagnosis by electron microscope study of skin biopsy (author's translation)
    • French
    • Le Charpentier Y, Crouzet J, Le Charpentier M, Lessana-Leibowitch M, Di Crescenzo MC, Bennett B et al. (1981) Fabry's disease without cutaneous angiokeratoma : diagnosis by electron microscope study of skin biopsy (author's translation). Sem Hop 57:78-82. French
    • (1981) Sem Hop , vol.57 , pp. 78-82
    • Le Charpentier, Y.1    Crouzet, J.2    Le Charpentier, M.3    Lessana-Leibowitch, M.4    Di Crescenzo, M.C.5    Bennett, B.6
  • 64
    • 0023278245 scopus 로고
    • Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions
    • Lebwohl M, Phelps RG, Yannuzzi L, Chang S, Schwartz I, Fuchs W (1987) Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions. New Engl J Med 317:347-50
    • (1987) New Engl J Med , vol.317 , pp. 347-350
    • Lebwohl, M.1    Phelps, R.G.2    Yannuzzi, L.3    Chang, S.4    Schwartz, I.5    Fuchs, W.6
  • 67
    • 1842506629 scopus 로고    scopus 로고
    • Misdiagnosis of Fabry disease: Importance of biochemical confirmation of clinical or pathological suspicion
    • Linthorst GE, De Rie MA, Tjiam KH, Aerts JM, Dingemans KP, Hollak CE (2004) Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion. Br J Dermatol 150:575-7
    • (2004) Br J Dermatol , vol.150 , pp. 575-577
    • Linthorst, G.E.1    De Rie, M.A.2    Tjiam, K.H.3    Aerts, J.M.4    Dingemans, K.P.5    Hollak, C.E.6
  • 68
    • 3442886498 scopus 로고    scopus 로고
    • Chomprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome
    • Loeys B, De Backer J, Van Acker P, Wettinck K, Pals G, Nuytinck L et al. (2004) Chomprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 24:140-6
    • (2004) Hum Mutat , vol.24 , pp. 140-146
    • Loeys, B.1    De Backer, J.2    Van Acker, P.3    Wettinck, K.4    Pals, G.5    Nuytinck, L.6
  • 69
    • 0035851312 scopus 로고    scopus 로고
    • Loeys B, Nuytinck l, Delvaux I, De Bie S, De Peape A (2001) Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because suspected Marfan syndrome. Arch Intern Med 161:2447-54
    • Loeys B, Nuytinck l, Delvaux I, De Bie S, De Peape A (2001) Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because suspected Marfan syndrome. Arch Intern Med 161:2447-54
  • 70
    • 0034754467 scopus 로고    scopus 로고
    • Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
    • MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38:769-75
    • (2001) J Med Genet , vol.38 , pp. 769-775
    • MacDermot, K.D.1    Holmes, A.2    Miners, A.H.3
  • 72
    • 16844381552 scopus 로고    scopus 로고
    • Natural history of the cerebrovascular complications of Fabry disease
    • FOS Investigators
    • Mehta A, Ginsberg L, FOS Investigators (2005) Natural history of the cerebrovascular complications of Fabry disease. Acta Paediatr 94:24-7
    • (2005) Acta Paediatr , vol.94 , pp. 24-27
    • Mehta, A.1    Ginsberg, L.2
  • 73
    • 12144287518 scopus 로고    scopus 로고
    • Fabry disease defined: Vaseline clinical manifestations of 366 patients in the Fabry Outcome Survey
    • Mehta A, Ricci R, Widemer U, Dehout F, Garcia de Lorenzo A, Kampmann C et al. (2004) Fabry disease defined: vaseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34:236-42
    • (2004) Eur J Clin Invest , vol.34 , pp. 236-242
    • Mehta, A.1    Ricci, R.2    Widemer, U.3    Dehout, F.4    Garcia de Lorenzo, A.5    Kampmann, C.6
  • 75
    • 0029891216 scopus 로고    scopus 로고
    • Cerebrovascular complications of Fabry's disease
    • Mitsias P, Levine SR (1996) Cerebrovascular complications of Fabry's disease. Ann Neurol 40:8-17
    • (1996) Ann Neurol , vol.40 , pp. 8-17
    • Mitsias, P.1    Levine, S.R.2
  • 77
    • 0037938617 scopus 로고    scopus 로고
    • Increased signal intensity in the pulvinar on T1-weighted images: A pathognomonic MR imaging sign of Fabry disease
    • Moore DF, Ye F, Schiffmann R, Butman JA (2003) Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol 24:1096-101
    • (2003) AJNR Am J Neuroradiol , vol.24 , pp. 1096-1101
    • Moore, D.F.1    Ye, F.2    Schiffmann, R.3    Butman, J.A.4
  • 78
    • 12444319931 scopus 로고    scopus 로고
    • Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a 'renal variant' phenotype
    • Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A et al. (2003) Fabry disease: detection of undiagnosed hemodialysis patients and identification of a 'renal variant' phenotype. Kidney Int 64:801-7
    • (2003) Kidney Int , vol.64 , pp. 801-807
    • Nakao, S.1    Kodama, C.2    Takenaka, T.3    Tanaka, A.4    Yasumoto, Y.5    Yoshida, A.6
  • 79
    • 0029023150 scopus 로고
    • An atypical variant of Fabry's disease in men with left ventricular hypertrophy
    • Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M et al. (1995) An atypical variant of Fabry's disease in men with left ventricular hypertrophy. New Engl J Med 333:288-93
    • (1995) New Engl J Med , vol.333 , pp. 288-293
    • Nakao, S.1    Takenaka, T.2    Maeda, M.3    Kodama, C.4    Tanaka, A.5    Tahara, M.6
  • 80
    • 0029240729 scopus 로고
    • Expression of the neurofibromatosis I gene product, neurofibromin, in blood vessel endothelial cells and smooth muscle
    • Norton KK, Xu J, Gutmann DH (1995) Expression of the neurofibromatosis I gene product, neurofibromin, in blood vessel endothelial cells and smooth muscle. Neurobiol Dis 2:13-21
    • (1995) Neurobiol Dis , vol.2 , pp. 13-21
    • Norton, K.K.1    Xu, J.2    Gutmann, D.H.3
  • 83
    • 22044433881 scopus 로고    scopus 로고
    • The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: A 30-year experience
    • Oderich GS, Panneton JM, Bower TC, Lindor NM, Cherry KJ, Noel AA et al. (2005) The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg 42:98-106
    • (2005) J Vasc Surg , vol.42 , pp. 98-106
    • Oderich, G.S.1    Panneton, J.M.2    Bower, T.C.3    Lindor, N.M.4    Cherry, K.J.5    Noel, A.A.6
  • 84
    • 8144221882 scopus 로고    scopus 로고
    • Long-term prognosis and causes of death in CADASIL: A retrospective study in 411 patients
    • Opherk C, Peters N, Herzog J, Luedtke R, Dichgans M (2004) Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain 127:2533-9
    • (2004) Brain , vol.127 , pp. 2533-2539
    • Opherk, C.1    Peters, N.2    Herzog, J.3    Luedtke, R.4    Dichgans, M.5
  • 85
    • 0034920305 scopus 로고    scopus 로고
    • Ophoff RA, DeYoung J, Service SK, Joosse M, Caffo NA, Sandkuijl LA et al. (2001) 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 69:447-53
    • Ophoff RA, DeYoung J, Service SK, Joosse M, Caffo NA, Sandkuijl LA et al. (2001) 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 69:447-53
  • 86
    • 34748910504 scopus 로고    scopus 로고
    • Osawa M, Kanai N, Kawai M, Fukuyama Y (1995) Clinical genetic study on the idiopatic occlusion of the circle of Willis. In: The research committee on spontaneous occlusion of the circle of Willis (Moyamoya disease) of the Ministry of Health and Welfare in Japan. Annual Report Tokyo, Japan: Ministry of Health and Welfare, Japan 1992 147-52
    • Osawa M, Kanai N, Kawai M, Fukuyama Y (1995) Clinical genetic study on the idiopatic occlusion of the circle of Willis. In: The research committee on spontaneous occlusion of the circle of Willis (Moyamoya disease) of the Ministry of Health and Welfare in Japan. Annual Report Tokyo, Japan: Ministry of Health and Welfare, Japan 1992 147-52
  • 87
    • 0036266203 scopus 로고    scopus 로고
    • Biochemical and molecular genetic basis of Fabry disease
    • Pastores GM, Lien YH (2002) Biochemical and molecular genetic basis of Fabry disease. J Am Soc Nephrol 13:130-3
    • (2002) J Am Soc Nephrol , vol.13 , pp. 130-133
    • Pastores, G.M.1    Lien, Y.H.2
  • 89
    • 0034054910 scopus 로고    scopus 로고
    • Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
    • Pepin M, Schwarze U, Superti-Furga A, Byers PH (2000) Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. New Engl J Med 342:673-80
    • (2000) New Engl J Med , vol.342 , pp. 673-680
    • Pepin, M.1    Schwarze, U.2    Superti-Furga, A.3    Byers, P.H.4
  • 91
    • 0034050792 scopus 로고    scopus 로고
    • The Marfan syndrome
    • Pyeritz RE (2000) The Marfan syndrome. Annu Rev Med 51:481-510
    • (2000) Annu Rev Med , vol.51 , pp. 481-510
    • Pyeritz, R.E.1
  • 92
    • 17644376503 scopus 로고    scopus 로고
    • The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland
    • Razvi SS, Davidson R, Bone I, Muir KW (2005) The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland. J Neurol Neurosurg Psychiatry 76:739-41
    • (2005) J Neurol Neurosurg Psychiatry , vol.76 , pp. 739-741
    • Razvi, S.S.1    Davidson, R.2    Bone, I.3    Muir, K.W.4
  • 93
    • 0034705145 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
    • Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J (2000) Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci USA 97:6001-6
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 6001-6006
    • Ringpfeil, F.1    Lebwohl, M.G.2    Christiano, A.M.3    Uitto, J.4
  • 94
    • 0036024994 scopus 로고    scopus 로고
    • Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies
    • Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M et al. (2002) Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat 20:153-61
    • (2002) Hum Mutat , vol.20 , pp. 153-161
    • Robinson, P.N.1    Booms, P.2    Katzke, S.3    Ladewig, M.4    Neumann, L.5    Palz, M.6
  • 95
    • 27844440793 scopus 로고    scopus 로고
    • Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study
    • Rolfs A, Bottcher T, Zschiesche M, Morris P, Winchester B, Bauer P et al. (2005) Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 366:1794-6
    • (2005) Lancet , vol.366 , pp. 1794-1796
    • Rolfs, A.1    Bottcher, T.2    Zschiesche, M.3    Morris, P.4    Winchester, B.5    Bauer, P.6
  • 96
    • 13244281559 scopus 로고    scopus 로고
    • Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1
    • Rosser TL, Vezina G, Packer RJ (2005) Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology 64:553-5
    • (2005) Neurology , vol.64 , pp. 553-555
    • Rosser, T.L.1    Vezina, G.2    Packer, R.J.3
  • 97
    • 0033814471 scopus 로고    scopus 로고
    • Etiology and pathophysiology of stroke as a complex trait
    • Rubattu S, Giliberti R, Volpe M (2000) Etiology and pathophysiology of stroke as a complex trait. Am J Hyperten 13:1139-48
    • (2000) Am J Hyperten , vol.13 , pp. 1139-1148
    • Rubattu, S.1    Giliberti, R.2    Volpe, M.3
  • 99
    • 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 56:947-64
    • (1997) J Neuropathol Exp Neurol , vol.56 , pp. 947-964
    • Ruchoux, M.M.1    Maurage, C.A.2
  • 101
    • 0028348890 scopus 로고
    • Neurovascular manifestations of heritable connective tissue disorders
    • Schievink WI, Michels VV, Piepgras DG (1994) Neurovascular manifestations of heritable connective tissue disorders. Stroke 25:889-903
    • (1994) Stroke , vol.25 , pp. 889-903
    • Schievink, W.I.1    Michels, V.V.2    Piepgras, D.G.3
  • 102
    • 0035816007 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease: A randomized controlled trial
    • Schiffmann R, Kopp JB, Austin HA, Sabnis S, Moore DF, Weibel T et al. (2001) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285:2743-9
    • (2001) JAMA , vol.285 , pp. 2743-2749
    • Schiffmann, R.1    Kopp, J.B.2    Austin, H.A.3    Sabnis, S.4    Moore, D.F.5    Weibel, T.6
  • 103
    • 0030024492 scopus 로고    scopus 로고
    • Molecular genetics of neurofibromatosis type 1 (NF1)
    • Shen MH, Harper PS, Upadhyaya M (1996) Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet 33:2-17
    • (1996) J Med Genet , vol.33 , pp. 2-17
    • Shen, M.H.1    Harper, P.S.2    Upadhyaya, M.3
  • 104
    • 0035102089 scopus 로고    scopus 로고
    • Pseudoxanthoma elasticum: Significance of limited phenotypic expression in parents of affected offspring
    • Sherer DW, Bercovitch L, Lebwohl M (2001) Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring. J Am Acad Dermatol 44:534-7
    • (2001) J Am Acad Dermatol , vol.44 , pp. 534-537
    • Sherer, D.W.1    Bercovitch, L.2    Lebwohl, M.3
  • 105
    • 34748884852 scopus 로고    scopus 로고
    • Sorensen Sa (2002) Genetic aspects of Fabry disease. In: European Symposium on Fabry Disease, Athens 8-9 November. Abstracts of plenary lectures; 2
    • Sorensen Sa (2002) Genetic aspects of Fabry disease. In: European Symposium on Fabry Disease, Athens 8-9 November. Abstracts of plenary lectures; 2
  • 107
    • 0030730124 scopus 로고    scopus 로고
    • Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1
    • Struk B, Neldner KH, Rao VS, St Jean P, Lindpaintner K (1997) Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum Mol Genet 6:1823-8
    • (1997) Hum Mol Genet , vol.6 , pp. 1823-1828
    • Struk, B.1    Neldner, K.H.2    Rao, V.S.3    St Jean, P.4    Lindpaintner, K.5
  • 108
    • 0023944379 scopus 로고
    • Ehlers-Danlos syndrome type IV: A multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen
    • Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B (1988) Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. J Biol Chem 263:6226-32
    • (1988) J Biol Chem , vol.263 , pp. 6226-6232
    • Superti-Furga, A.1    Gugler, E.2    Gitzelmann, R.3    Steinmann, B.4
  • 109
    • 0014477593 scopus 로고
    • Cerebrovascular 'moyamoya' disease. Disease showing abnormal net-like vessels in base of brain
    • Suzuki J, Takaku A (1969) Cerebrovascular 'moyamoya' disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol 20:288-99
    • (1969) Arch Neurol , vol.20 , pp. 288-299
    • Suzuki, J.1    Takaku, A.2
  • 110
    • 33745492585 scopus 로고    scopus 로고
    • Clinical manifestations and management of neurofibromatosis type 1
    • Tonsgard JH (2006) Clinical manifestations and management of neurofibromatosis type 1. Semin Pediatr Neurol 13:2-7
    • (2006) Semin Pediatr Neurol , vol.13 , pp. 2-7
    • Tonsgard, J.H.1
  • 111
    • 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. (1993) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genetics 3:256-9
    • (1993) Nat Genetics , 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
  • 112
    • 0037072447 scopus 로고    scopus 로고
    • Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease
    • Trip MD, Smulders YM, Wegman JJ, Hu X, Boer JM, ten Brink JB et al. (2002) Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Circulation 106:773-5
    • (2002) Circulation , vol.106 , pp. 773-775
    • Trip, M.D.1    Smulders, Y.M.2    Wegman, J.J.3    Hu, X.4    Boer, J.M.5    ten Brink, J.B.6
  • 114
    • 0030058291 scopus 로고    scopus 로고
    • Is Marfan syndrome associated with symptomatic intracranial aneurysms?
    • van den Berg JS, Limburg M, Hennekam RC (1996) Is Marfan syndrome associated with symptomatic intracranial aneurysms? Stroke 271:10-2
    • (1996) Stroke , vol.271 , pp. 10-12
    • van den Berg, J.S.1    Limburg, M.2    Hennekam, R.C.3
  • 115
    • 0344584550 scopus 로고    scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages 3rd-6th decades
    • van den Boom R, Lesnik Oberstein SA, Ferrari MD, Haan J, van Buchem MA (2003) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages 3rd-6th decades. Radiology 229:683-90
    • (2003) Radiology , vol.229 , pp. 683-690
    • van den Boom, R.1    Lesnik Oberstein, S.A.2    Ferrari, M.D.3    Haan, J.4    van Buchem, M.A.5
  • 117
    • 15744396344 scopus 로고    scopus 로고
    • Neurofibromatosis 1: From lab bench to clinic
    • Ward BA, Gutmann DH (2005) Neurofibromatosis 1: from lab bench to clinic. Pediatr Neurol 32:221-8
    • (2005) Pediatr Neurol , vol.32 , pp. 221-228
    • Ward, B.A.1    Gutmann, D.H.2
  • 118
    • 0033605482 scopus 로고    scopus 로고
    • Hyperactive Ras as a therapeutic target in neurofibromatosis type 1
    • Weiss B, Bollag G, Shannon K (1999) Hyperactive Ras as a therapeutic target in neurofibromatosis type 1. Am J Med Genet 89:14-22
    • (1999) Am J Med Genet , vol.89 , pp. 14-22
    • Weiss, B.1    Bollag, G.2    Shannon, K.3
  • 119
    • 0036193110 scopus 로고    scopus 로고
    • Neurovascular complications of Marfan syndrome: A retrospective, hospital-based study
    • Wityk R, Zanferrari C, Oppenheimer S (2002) Neurovascular complications of Marfan syndrome: a retrospective, hospital-based study. Stroke 33:680-4
    • (2002) Stroke , vol.33 , pp. 680-684
    • Wityk, R.1    Zanferrari, C.2    Oppenheimer, S.3
  • 120
    • 0006954274 scopus 로고    scopus 로고
    • Linkage of familial Moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25
    • Yamauchi T, Tada M, Houkin K, Tanaka T, Nakamura Y, Kuroda S et al. (2000) Linkage of familial Moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke 31:930-935
    • (2000) Stroke , vol.31 , pp. 930-935
    • Yamauchi, T.1    Tada, M.2    Houkin, K.3    Tanaka, T.4    Nakamura, Y.5    Kuroda, S.6
  • 121
    • 0037066143 scopus 로고    scopus 로고
    • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
    • Yanagawa S, Ito N, Arima K, Ikeda S (2002) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Neurology 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.