메뉴 건너뛰기




Volumn 27, Issue 4, 2006, Pages 252-256

Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene

Author keywords

CADASIL; Cognitive impairment; Genetics; Neuropsychology; Vascular dementia

Indexed keywords

ARGININE; CYSTEINE; NOTCH3 RECEPTOR;

EID: 33749073835     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10072-006-0679-7     Document Type: Article
Times cited : (17)

References (15)
  • 1
    • 0029089247 scopus 로고
    • Clinical spectrum of CADASIL: A study of 7 families
    • Chabriat H, Vahedi K, Iba-Zizen MT 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
  • 2
    • 0037111353 scopus 로고    scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotype and mutational spectrum
    • Dichgans M (2002) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotype and mutational spectrum. J Neurol Sci 203-204:77-80
    • (2002) J Neurol Sci , vol.203-204 , pp. 77-80
    • Dichgans, M.1
  • 3
    • 0027390357 scopus 로고
    • Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study
    • Baudrimont M, Dubas F, Joutel A et al (1993) Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study. Stroke 24:122-125
    • (1993) Stroke , vol.24 , pp. 122-125
    • Baudrimont, M.1    Dubas, F.2    Joutel, A.3
  • 4
    • 0028113875 scopus 로고
    • Presence of ultrastructural arterial lesions in muscle and skins vessels of patients with CADASIL
    • Ruchoux MM, Chabriat H, Bousser MG et al (1994) Presence of ultrastructural arterial lesions in muscle and skins 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
  • 5
    • 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 (1996) Notch3 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
  • 6
    • 22144484846 scopus 로고    scopus 로고
    • The spectrum of mutations for CADASIL diagnosis
    • Federico A, Bianchi S, Dotti MT (2005) The spectrum of mutations for CADASIL diagnosis. Neurol Sci 26:117-124
    • (2005) Neurol Sci , vol.26 , pp. 117-124
    • Federico, A.1    Bianchi, S.2    Dotti, M.T.3
  • 7
    • 20244366227 scopus 로고    scopus 로고
    • The spectrum of Notch3 mutations in 28 Italian CADASIL families
    • Dotti MT, Federico A, Mazzei R et al (2005) The spectrum of Notch3 mutations in 28 Italian CADASIL families. J Neurol Neurosurg Psychiatry 76:736-738
    • (2005) J Neurol Neurosurg Psychiatry , vol.76 , pp. 736-738
    • Dotti, M.T.1    Federico, A.2    Mazzei, R.3
  • 8
    • 0031953867 scopus 로고    scopus 로고
    • A kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A 2-year neuropsychological follow-up
    • Trojano L, Ragno M, Manca A, Caruso G (1998) A kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A 2-year neuropsychological follow-up. J Neurol 245:217-222
    • (1998) J Neurol , vol.245 , pp. 217-222
    • Trojano, L.1    Ragno, M.2    Manca, A.3    Caruso, G.4
  • 9
    • 0031590602 scopus 로고    scopus 로고
    • Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
    • Joutel A, Vahedi K, Corpechot C et al (1997) Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 350:1511-1515
    • (1997) Lancet , vol.350 , pp. 1511-1515
    • Joutel, A.1    Vahedi, K.2    Corpechot, C.3
  • 10
    • 0030949576 scopus 로고    scopus 로고
    • Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy
    • Malandrini A, Carrera P, Ciacci G 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
  • 11
    • 9344252203 scopus 로고    scopus 로고
    • Thrombophilic risk factors and unusual clinical features in three Italian CADASIL patients
    • Pantoni L, Sarti C, Pescini F et al (2004) Thrombophilic risk factors and unusual clinical features in three Italian CADASIL patients. Eur J Neurol 11:782-787
    • (2004) Eur J Neurol , vol.11 , pp. 782-787
    • Pantoni, L.1    Sarti, C.2    Pescini, F.3
  • 12
    • 0030040977 scopus 로고    scopus 로고
    • A patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) confirmed by sural nerve biopsy
    • Lechner-Scott J, Engelter S, Steck A et al (1996) A patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) confirmed by sural nerve biopsy. J Neurol Neurosurg Psychiatry 60:235-236
    • (1996) J Neurol Neurosurg Psychiatry , vol.60 , pp. 235-236
    • Lechner-Scott, J.1    Engelter, S.2    Steck, A.3
  • 13
    • 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 (1995) An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Ann Neurol 38:231-238
    • (1995) Ann Neurol , vol.38 , pp. 231-238
    • Ragno, M.1    Tournier-Lasserve, E.2    Fiori, M.G.3
  • 14
    • 6444242560 scopus 로고    scopus 로고
    • Detection of the founder effect in Finnish CADASIL families
    • Mykkanen K, Savontaus ML, Juvonen V et al (2004) Detection of the founder effect in Finnish CADASIL families. Eur J Hum Genet 12:813-819
    • (2004) Eur J Hum Genet , vol.12 , pp. 813-819
    • Mykkanen, K.1    Savontaus, M.L.2    Juvonen, V.3
  • 15
    • 33646057701 scopus 로고    scopus 로고
    • Correlation of cognitive status, MRI- and SPECT-imaging in CADASIL patients
    • Scheid R, Preul C, Lincke T et al (2006) Correlation of cognitive status, MRI- and SPECT-imaging in CADASIL patients. Eur J Neurol 13:363-370
    • (2006) Eur J Neurol , vol.13 , pp. 363-370
    • Scheid, R.1    Preul, C.2    Lincke, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.