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Volumn 44, Issue 5, 1998, Pages 731-739

The phenotypic spectrum of CADASIL: Clinical findings in 102 cases

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTERY DISEASE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN ARTERY; BRAIN INFARCTION; CLINICAL OBSERVATION; COGNITIVE DEFECT; FEMALE; GENETIC ANALYSIS; HUMAN; LEUKOENCEPHALOPATHY; MAJOR CLINICAL STUDY; MALE; MULTIGENE FAMILY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL DISABILITY; PRIORITY JOURNAL; SKIN BIOPSY;

EID: 0031738054     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410440506     Document Type: Article
Times cited : (633)

References (47)
  • 1
    • 0017750160 scopus 로고
    • Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease
    • Sourander P, Walinder J. Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease. Acta Neuropathol 1977;39:247-254
    • (1977) Acta Neuropathol , vol.39 , pp. 247-254
    • Sourander, P.1    Walinder, J.2
  • 2
    • 0017782948 scopus 로고
    • Chronic familial vascular encephalopathy
    • Stevens DL, Hewlett RH, Brownell B. Chronic familial vascular encephalopathy. Lancet 1977;1:1364-1365
    • (1977) Lancet , vol.1 , pp. 1364-1365
    • Stevens, D.L.1    Hewlett, R.H.2    Brownell, B.3
  • 3
    • 0023621324 scopus 로고
    • Hereditary multi-infarct dementia
    • Sonninen V, Savontaus ML. Hereditary multi-infarct dementia. Eur Neurol 1987;27:209-215
    • (1987) Eur Neurol , vol.27 , pp. 209-215
    • Sonninen, V.1    Savontaus, M.L.2
  • 4
    • 0025735586 scopus 로고
    • Familial subcortical dementia with arteriopathic leukoencephalopathy. A clinico-pathological case
    • Paris
    • Davous P, Fallet Bianco C. Familial subcortical dementia with arteriopathic leukoencephalopathy. A clinico-pathological case. Rev Neurol (Paris) 1991;147:376-384
    • (1991) Rev Neurol , vol.147 , pp. 376-384
    • Davous, P.1    Fallet Bianco, C.2
  • 5
    • 0025947095 scopus 로고
    • Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy
    • Tournier-Lasserve E, Iba Zizen MT, Romero N, Bousser MG. Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy. Stroke 1991;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
  • 6
    • 0026664380 scopus 로고
    • A familial disorder with subcortical ischemic strokes, dementia, and leukoencephalopathy
    • Mas JL, Dilouya A, de Recondo J. A familial disorder with subcortical ischemic strokes, dementia, and leukoencephalopathy. Neurology 1992;42:1015-1019
    • (1992) Neurology , vol.42 , pp. 1015-1019
    • Mas, J.L.1    Dilouya, A.2    De Recondo, J.3
  • 7
    • 0000255349 scopus 로고
    • Familiäre zerebrale Gefäßerkrankung
    • Abstract
    • Colmant H. Familiäre zerebrale Gefäßerkrankung. Zentralbl Allg Pathol 1980;124:163 (Abstract)
    • (1980) Zentralbl Allg Pathol , vol.124 , pp. 163
    • Colmant, H.1
  • 8
    • 0027479304 scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
    • Tournier-Lasserve E, Joutel A, Melki J, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet 1993;3:256-259
    • (1993) Nat Genet , vol.3 , pp. 256-259
    • Tournier-Lasserve, E.1    Joutel, A.2    Melki, J.3
  • 9
    • 0029092525 scopus 로고
    • An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    • Ragno M, Tournier-Lasserve E, Fiori MG, et al. An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Ann Neurol 1995;38:231-236
    • (1995) Ann Neurol , vol.38 , pp. 231-236
    • Ragno, M.1    Tournier-Lasserve, E.2    Fiori, M.G.3
  • 10
    • 0028858163 scopus 로고
    • New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: Migraine as the prominent clinical feature
    • Verin M, Rolland Y, Landgraf F, et al. New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature. J Neurol Neurosurg Psychiatry 1995;59:579-585
    • (1995) J Neurol Neurosurg Psychiatry , vol.59 , pp. 579-585
    • Verin, M.1    Rolland, Y.2    Landgraf, F.3
  • 11
    • 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, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Clinical, neuroimaging, pathological and genetic study of a large Italian family. Brain 1995;118: 207-215
    • (1995) Brain , vol.118 , pp. 207-215
    • Sabbadini, G.1    Francia, A.2    Calandriello, L.3
  • 12
    • 0028785253 scopus 로고
    • Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL)
    • Hutchinson M, O'Riordan J, Javed M, et al. Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL). Ann Neurol 1995;38:817-824
    • (1995) Ann Neurol , vol.38 , pp. 817-824
    • Hutchinson, M.1    O'Riordan, J.2    Javed, M.3
  • 13
    • 0028871460 scopus 로고
    • A four- Generation Dutch family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), linked to chromosome 19p13
    • Wielaard R, Bornebroek M, Ophoff RA, et al. A four-generation Dutch family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), linked to chromosome 19p13. Clin Neurol Neurosurg 1995;97:307-313
    • (1995) Clin Neurol Neurosurg , vol.97 , pp. 307-313
    • Wielaard, R.1    Bornebroek, M.2    Ophoff, R.A.3
  • 14
    • 0029096518 scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: A clinicopathological and genetic study of a Swiss family
    • Jung HH, Bassetti C, Tournier-Lasserve E, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a clinicopathological and genetic study of a Swiss family. J Neurol Neurosurg Psychiatry 1995;59:138-143
    • (1995) J Neurol Neurosurg Psychiatry , vol.59 , pp. 138-143
    • Jung, H.H.1    Bassetti, C.2    Tournier-Lasserve, E.3
  • 15
    • 0029089247 scopus 로고
    • Clinical spectrum of CADASIL: A study of 7 families
    • Chabriat H, Vahedi K, Iba Zizen MT, et al. Clinical spectrum of CADASIL: a study of 7 families. Lancet 1995;346:934-939
    • (1995) Lancet , vol.346 , pp. 934-939
    • Chabriat, H.1    Vahedi, K.2    Iba Zizen, M.T.3
  • 16
    • 0029655609 scopus 로고    scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval
    • Ducros A, Nagy T, Alamowitch S, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval. Am J Hum Genet 1996;58:171-181
    • (1996) Am J Hum Genet , vol.58 , pp. 171-181
    • Ducros, A.1    Nagy, T.2    Alamowitch, S.3
  • 17
    • 0029932262 scopus 로고    scopus 로고
    • Identification of a key recombinant narrows the CADASIL gene region to 8 cM and argues against allelism of CADASIL and familial hemiplegic migraine
    • Dichgans M, Mayer M, Müller-Myhsok B, et al. Identification of a key recombinant narrows the CADASIL gene region to 8 cM and argues against allelism of CADASIL and familial hemiplegic migraine. Genomics 1996;32:151-154
    • (1996) Genomics , vol.32 , pp. 151-154
    • Dichgans, M.1    Mayer, M.2    Müller-Myhsok, B.3
  • 18
    • 3042910690 scopus 로고    scopus 로고
    • CADASIL: Genetic homogeneity and mapping of the locus within a 2-cM interval
    • Abstract
    • Alamowitch S, Ducros A, Nagy T, et al. CADASIL: genetic homogeneity and mapping of the locus within a 2-cM interval. Neurology 1996;46:211 (Abstract)
    • (1996) Neurology , vol.46 , pp. 211
    • Alamowitch, S.1    Ducros, A.2    Nagy, T.3
  • 19
    • 16044362074 scopus 로고    scopus 로고
    • Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
    • Joutel A, Corpechot C, Ducros A, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996;383:707-710
    • (1996) Nature , vol.383 , pp. 707-710
    • Joutel, A.1    Corpechot, C.2    Ducros, A.3
  • 20
    • 0031590602 scopus 로고    scopus 로고
    • Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
    • Joutel A, Vahedi K, Corpechot C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 1997;350:1511-1515
    • (1997) Lancet , vol.350 , pp. 1511-1515
    • Joutel, A.1    Vahedi, K.2    Corpechot, C.3
  • 21
    • 0027390357 scopus 로고
    • Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study
    • Baudrimont M, Dubas F, Joutel A, et al. Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study. Stroke 1993;24:122-125
    • (1993) Stroke , vol.24 , pp. 122-125
    • Baudrimont, M.1    Dubas, F.2    Joutel, A.3
  • 22
    • 0030884876 scopus 로고    scopus 로고
    • CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • Ruchoux MM, Maurage CA. CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neuropathol Exp Neurol 1997;56:947-964
    • (1997) J Neuropathol Exp Neurol , vol.56 , pp. 947-964
    • Ruchoux, M.M.1    Maurage, C.A.2
  • 23
    • 0025817198 scopus 로고
    • Sclerosing vasculopathy of the central nervous system in nonelderly demented patients
    • Estes M, Chimowitz MI, Awad IA, et al. Sclerosing vasculopathy of the central nervous system in nonelderly demented patients. Arch Neurol 1991;48:631-636
    • (1991) Arch Neurol , vol.48 , pp. 631-636
    • Estes, M.1    Chimowitz, M.I.2    Awad, I.A.3
  • 24
    • 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, Jörg J. 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 1995;89:116-121
    • (1995) Acta Neuropathol , vol.89 , pp. 116-121
    • Schröder, J.M.1    Sellhaus, B.2    Jörg, J.3
  • 25
    • 0030040977 scopus 로고    scopus 로고
    • A patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) confirmed by sural nerve biopsy
    • Lechner Scott J, Engelter S, Steck AJ, et al. A patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) confirmed by sural nerve biopsy. J Neurol Neurosurg Psychiatry 1996;60:235-236
    • (1996) J Neurol Neurosurg Psychiatry , vol.60 , pp. 235-236
    • Lechner Scott, J.1    Engelter, S.2    Steck, A.J.3
  • 26
    • 0028113875 scopus 로고
    • Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL
    • Ruchoux MM, Chabriat H, Bousser MG, et al. Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL. Stroke 1994;25:2291-2292
    • (1994) Stroke , vol.25 , pp. 2291-2292
    • Ruchoux, M.M.1    Chabriat, H.2    Bousser, M.G.3
  • 27
    • 0030854861 scopus 로고    scopus 로고
    • CADASIL: Skin biopsy allows diagnosis in early stages
    • Ebke M, Dichgans M, Bergmann M, et al. CADASIL: skin biopsy allows diagnosis in early stages. Acta Neurol Scand 1997;95:351-357
    • (1997) Acta Neurol Scand , vol.95 , pp. 351-357
    • Ebke, M.1    Dichgans, M.2    Bergmann, M.3
  • 29
    • 0028851825 scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • Skehan SJ, Hutchinson M, MacErlaine DP. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Am J Neuroradiol 1995;16:2115-2119
    • (1995) Am J Neuroradiol , vol.16 , pp. 2115-2119
    • Skehan, S.J.1    Hutchinson, M.2    MacErlaine, D.P.3
  • 30
    • 0028156770 scopus 로고
    • Summary of the proceedings of the first international workshop on CADASIL, Paris, May 19-21, 1993
    • Bousser MG, Tournier Lasserve E. Summary of the proceedings of the first international workshop on CADASIL, Paris, May 19-21, 1993. Stroke 1994;25:704-707
    • (1994) Stroke , vol.25 , pp. 704-707
    • Bousser, M.G.1    Tournier Lasserve, E.2
  • 31
    • 0029040890 scopus 로고
    • Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus
    • Chabriat H, Tournier Lasserve E, et al. Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus. Neurology 1995;45:1086-1091
    • (1995) Neurology , vol.45 , pp. 1086-1091
    • Chabriat, H.1    Tournier Lasserve, E.2
  • 32
    • 0025904240 scopus 로고
    • SIDAM: A structured interview for the diagnosis of the Alzheimer type, multi-infarct dementia and dementias of other aetiology according to ICD-10 and DSM-III-R
    • Zaudig M, Mittelhammer J, Hiller W, et al. SIDAM: a structured interview for the diagnosis of the Alzheimer type, multi-infarct dementia and dementias of other aetiology according to ICD-10 and DSM-III-R. Psychol Med 1991;21:225-235
    • (1991) Psychol Med , vol.21 , pp. 225-235
    • Zaudig, M.1    Mittelhammer, J.2    Hiller, W.3
  • 33
    • 0016823810 scopus 로고
    • Mini-Mental State: A practical method for grading the cognitive state of patients for the clinician
    • Folstein MF, Folstein SE, McHugh PR. Mini-Mental State: A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-198
    • (1975) J Psychiatr Res , vol.12 , pp. 189-198
    • Folstein, M.F.1    Folstein, S.E.2    McHugh, P.R.3
  • 34
    • 0003429583 scopus 로고
    • Odessa, FL: Psychological Assessment Resources
    • Mattis S. Dementia Rating Scale. Odessa, FL: Psychological Assessment Resources, 1988
    • (1988) Dementia Rating Scale
    • Mattis, S.1
  • 35
    • 0346031709 scopus 로고
    • Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain
    • Headache Classification Committee of the International Headache Society. Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain. Cephalalgia 1988; 8:1-96
    • (1988) Cephalalgia , vol.8 , pp. 1-96
  • 36
    • 33845382806 scopus 로고
    • Nonparametric estimation from incomplete observations
    • Kaplan EL, Meier P. Nonparametric estimation from incomplete observations. J Am Stat Assoc 1985;53:457-481
    • (1985) J Am Stat Assoc , vol.53 , pp. 457-481
    • Kaplan, E.L.1    Meier, P.2
  • 37
    • 0026544955 scopus 로고
    • Persistent worsening of stroke sequellae after delayed seizures
    • Bogousslavsky J, Martin R, Regli R, et al. Persistent worsening of stroke sequellae after delayed seizures. Arch Neurol 1992;49: 385-388
    • (1992) Arch Neurol , vol.49 , pp. 385-388
    • Bogousslavsky, J.1    Martin, R.2    Regli, R.3
  • 38
    • 0000889993 scopus 로고    scopus 로고
    • Analysis of CADASIL clinical natural history in a series of 136 patients belonging to 17 families linked to chromosome 19
    • Abstract
    • Vahedi K, Chabriat H, Ducros A, et al. Analysis of CADASIL clinical natural history in a series of 136 patients belonging to 17 families linked to chromosome 19. Neurology 1996;46:211 (Abstract)
    • (1996) Neurology , vol.46 , pp. 211
    • Vahedi, K.1    Chabriat, H.2    Ducros, A.3
  • 39
    • 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, et al. Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol 1995;89:500-512
    • (1995) Acta Neuropathol , vol.89 , pp. 500-512
    • Ruchoux, M.M.1    Guerouaou, D.2    Vandenhaute, B.3
  • 40
    • 0030317376 scopus 로고    scopus 로고
    • Causes of epilepsy: Contributions of the Rochester epidemiology project
    • Annegers JF, Rocca WA, Hause A. Causes of epilepsy: contributions of the Rochester epidemiology project. Mayo Clin Proc 1996;71:570-575
    • (1996) Mayo Clin Proc , vol.71 , pp. 570-575
    • Annegers, J.F.1    Rocca, W.A.2    Hause, A.3
  • 42
    • 0028271418 scopus 로고
    • Autosomal dominant arteriopathic leuko-encephalopathy and Alzheimer's disease
    • Gray F, Robert F, Labrecque R, et al. Autosomal dominant arteriopathic leuko-encephalopathy and Alzheimer's disease. Neuropathol Appl Neurobiol 1994;20:22-30
    • (1994) Neuropathol Appl Neurobiol , vol.20 , pp. 22-30
    • Gray, F.1    Robert, F.2    Labrecque, R.3
  • 43
    • 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, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): confirmation by cerebral biopsy in 2 cases. Clin Neuropathol 1995;14:201-206
    • (1995) Clin Neuropathol , vol.14 , pp. 201-206
    • Lammie, G.A.1    Rakshi, J.2    Rossor, M.N.3
  • 44
    • 8944257612 scopus 로고    scopus 로고
    • Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy
    • Malandrini A, Carrera P, Palmeri S, et al. Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy. Acta Neuropathol 1996;92: 115-122
    • (1996) Acta Neuropathol , vol.92 , pp. 115-122
    • Malandrini, A.1    Carrera, P.2    Palmeri, S.3
  • 45
    • 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 R. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: study of two American families with predominant dementia. J Neurol Sci 1997;146:27-33
    • (1997) J Neurol Sci , vol.146 , pp. 27-33
    • Hedera, P.1    Friedland, R.2
  • 46
    • 0030875945 scopus 로고    scopus 로고
    • Phenotypic variability of CADASIL and novel morphologic findings
    • Rubio A, Rifkin D, Powers JM, et al. Phenotypic variability of CADASIL and novel morphologic findings. Acta Neuropathol 1997;94:247-254
    • (1997) Acta Neuropathol , vol.94 , pp. 247-254
    • Rubio, A.1    Rifkin, D.2    Powers, J.M.3
  • 47
    • 0030712287 scopus 로고    scopus 로고
    • Hereditary endotheliopathy with retinopathy, nephropathy, and stroke
    • Jen J, Cohen AH, Yue Q, et al. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke. Neurology 1997;49: 1322-1330
    • (1997) Neurology , vol.49 , pp. 1322-1330
    • Jen, J.1    Cohen, A.H.2    Yue, Q.3


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