Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Clinical and Experimental Hypertension

Volumn 28, Issue 3-4, 2006, Pages 271-277

  Guidetti, D ^a   Casali, B ^a   Mazzei, R L ^b   Dotti, M T ^c  

^a S MARIA NUOVA HOSPITAL   (Italy)

^b CNR   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

Author keywords

CADASIL; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Notch 3 gene

Indexed keywords

BRAIN ISCHEMIA; CADASIL; CHROMOSOME 19; CHROMOSOME 19Q; CLINICAL FEATURE; COGNITIVE DEFECT; CONFERENCE PAPER; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC IMAGING; DIAGNOSTIC TEST; DISEASE SEVERITY; FAMILY HISTORY; GENE LOCATION; GENE LOCUS; GENETIC ANALYSIS; GENETIC LINKAGE; HEART ATRIUM SEPTUM DEFECT; HUMAN; MIGRAINE; MIGRAINE AURA; MISSENSE MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; SEIZURE; STROKE; BRAIN INFARCTION; DIFFERENTIAL DIAGNOSIS; GENETICS; MULTIINFARCT DEMENTIA; MUTATION; PREVALENCE; PROGNOSIS; REVIEW;

DNA; NOTCH RECEPTOR; NOTCH3 PROTEIN, HUMAN;

CADASIL; CEREBRAL INFARCTION; DEMENTIA, MULTI-INFARCT; DIAGNOSIS, DIFFERENTIAL; DNA; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; PREVALENCE; PROGNOSIS; RECEPTORS, NOTCH;

EID: 33746416743     PISSN: 10641963     EISSN: 15256006     Source Type: Journal    
DOI: 10.1080/10641960600549223     Document Type: Conference Paper

References (27)

1. Van Bogaert I. Encephalopathie sous-corticale progressive (Binswanger) à évolution rapide chez deux soeurs. Med Hellen 1955; 24:961-72.
2. Tournier-Lasserve E, Iba-Zizen MT, Romero N, Bousser MG. Autosomal dominant syndrome with stroke-like episodes and leukoencephalopathy. Stroke 1991; 22:1297-1302.
3. Tournier-Lasserve E, Joutel A, Melki J, Weissenbach J, Lathrop GM, Chabriat H. Cerebral autosomal dominant ateriophaty with subcortical infarcts and leucoencephalopathy maps to chromosome 19q12. Nat Genet 1993; 3:256-59.
4. Salvi F, Michelucci R, Plasmati R, et al. Slowly progressive familial dementia with recurrent strokes and white matter hypodensity on CT scan. Ital J Neurol Sci 1992; 13:135-140.
5. Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG, et al. Clinical spectrum of CADASIL: a study of 7 families. Lancet 1995; 346:934-939.
6. Dichgans M, Mayer M, Utter I, Bruning R, Muller-Hocker J, Rungger G, et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 1998; 44:731-739.
7. Baudrimont M, Dubas F, Joutel A, Tournier-Lasserve E, Bousser MG. Autosomal dominant leucoencephalopathy and subcortical ischemic stroke. A clinicopathological study. Stroke 1993; 24:122-125.
8. Joutel A, Katayoun V, Corpechot C, Troesch A, Chabriat H, Vayssière C, et al. Strong clustering and stereotyped nature of Notch 3 mutations in CADASIL patients. Lancet 1997; 350:1511-1515.
9. Ruchoux MM, Maurage CA. CADASIL. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neuropath Exp Neurol 1997; 56:947-964.
10. Davous P. CADASIL: a review with proposed diagnostic criteria. Eur J Neurol 1998; 5:219-233.
11. Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Mohr JP. The natural history of CADASIL. A pooled analysis of previously published cases. Stroke 1999; 30:1230-1233.
12. Ceroni M, Poloni TE, Tonietti S, Fabozzi D, Uggetti C, Frediani F, et al. Migraine with aura and white matter abnormalities: Notch 3 mutation. Neurology 2000; 54:1869-1871.
13. Chabriat H, Mrissa R, Levy C, Vahedi K, Tallia H, Iba-Zizen MT, et al. Brain stem MRI signal abnormalities in CADASIL. Stroke 1999; 30:457-459.
14. Davous P, Bequet D. CADASIL. Un nouveau modèle de démence sous-corticale: Rev. Neurol 1995; 11:634-639.
15. Trojano L, Ragno M, Manca A, Caruso G. A kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A 2-year neuropsychological follow-up. J Neurol 1998; 245:217-222.
16. Iannucci G, Dichans M, Rovaris M, Bruning R, Gasser T, Giacomotti L, et al. Correlation between clinical findings and magnetization transfer imaging metrics of tissue damage in individuals with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke 2001; 32:643-648.
17. Liebetrau M, Herzog J, Kloss CUA, Hamann GF, Dichgans M. Prolonged cerebral transit time in CADASIL. A transcranial ultrasound study. Stroke 2002; 33:509-512.
18. Parisi V, Pierelli F, Fattapposta F, Bianco F, Parisi L, Restuccia R, et al. Early visual function impairment in CADASIL. Neurology 2003; 60:2008-2010.
19. Oberstein L, Ferrari MD, Bakker E, van Gestel J, Kneppers ALJ, Frants RR, et al. Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Neurology 1999; 52:1913-1915.
20. Markus HS, Martin RJ, Simpson MA, Dong YB, Ali N, Crosby AH, Powell JF. Diagnostic strategies in CADASIL. Neurology 2002; 59:1134-1138.
21. Dong Y, Hassan A, Zhang Z, Huber D, Dalageorgou C, Markus HS. Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis. Stroke 2003; 34:203-205.
22. Ragno M, Tournier-Lasserve E, Fiori MG, Manca A, Patrosso MC, Ferlini A, et al. An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Ann Neurol 1995; 38:231-236.
23. Malandrini A, Carrera P, Calmieri S, Cavallaio T, Fabrizi GM, Villanova M, et al. Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy. Acta Neuropathol 1996; 92:115-122.
24. Sabbadini G, Francia A, Calandriello L, Di Biasi G, Trasimeni G, Gualdi GF, 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.
25. Pellicano' S, Costa A, Terra L. Arteriopatia cerebrale autosomica dominante con infarti sottocorticali e leucoencefalopatia (CADASIL). Descrizione di due casi clinici. Minerva Med 2001; 62:381-384.
26. Olivieri RL, Muglia M, De Stefano N, Mazzei R, Labate A, Conforti FL, et al. A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. Arch Neurol 2001; 58:1418-1422.
27. Guidetti D, Casali B, Mazzei RL, Cenacchi G, De Berti G, Zuccoli G, et al. An Italian case of CADASIL with mutation CGC-TGC in codon 1006 of exon 19 in Notch3 gene. Neurol Sci 2004; 24:401-406.