A novel hereditary small vessel disease of the brain

Annals of Neurology

Volumn 59, Issue 2, 2006, Pages 353-357

  Verreault, Steve ^a   Joutel, Anne ^b   Riant, Florence ^b   Neves, Georgina ^c   Silva, Mario Rui ^c   Maciazek, Jacqueline ^b   Tournier Lasserve, Elizabeth ^b   Bousser, Marie Germaine ^a   Chabriat, Hugues ^a  

^a HÔPITAL LARIBOISIÈRE   (France)

^b INSERM   (France)

^c Hospital S Pedro   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MONOCLONAL ANTIBODY; NOTCH3 RECEPTOR;

ADULT; AGED; ARTICLE; CADASIL; CARDIOVASCULAR RISK; CEREBROVASCULAR DISEASE; CLINICAL ARTICLE; ELECTRON MICROSCOPY; EXON; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC DISORDER; GENETIC LINKAGE; HAPLOTYPE; HUMAN; IMMUNOHISTOCHEMISTRY; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PORTUGAL; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN BIOPSY; SMALL VESSEL DISEASE OF THE BRAIN; WHITE MATTER;

BRAIN ISCHEMIA; BRAIN MAPPING; CADASIL; FAMILY HEALTH; FEMALE; HUMANS; MAGNETIC RESONANCE ANGIOGRAPHY; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; RECEPTORS, NOTCH; SKIN;

EID: 32044464115     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20775     Document Type: Article

References (14)

1. Tournier-Lasserve E. New players in the genetics of stroke. N Engl J Med 2002;347:1711-1712.
2. 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.
3. 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.
4. Chabriat H, Vahedi K, Iba-Zizen MT, et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet 1995;346:934-939.
5. Yanagawa S, Ito N, Arima K, Ikeda S. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Neurology 2002;58:817-820.
6. Grand MG, Kaine J, Fulling K, et al. Cerebroretinal vasculopathy. A new hereditary syndrome. Ophthalmology 1988;95:649-659.
7. Jen J, Cohen AH, Yue Q, et al. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Neurology 1997;49:1322-1330.
8. Revesz T, Ghiso J, Lashley T, et al. Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view. J Neuropathol Exp Neurol 2003;62:885-898.
9. Joutel A, Favrole P, Labauge P, et al. Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. Lancet 2001;358:2049-2051.
10. Domenga V, Fardoux P, Lacombe P, et al. Notch3 is required for arterial identity and maturation of vascular smooth muscle cells. Genes Dev 2004;18:2730-2735.
11. Joutel A, Vahedi K, Corpechot C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 1997;350:1511-1515.
12. 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.
13. Fukutake T. [Young-adult-onset hereditary subcortical vascular dementia: cerebral autosomal recessive arteriosclerosis with subcortical infarcts and leukoencephalopathy (CARASIL)]. Rinsho Shinkeigaku 1999;39:50-52.
14. Ophoff RA, DeYoung J, Service SK, et al. 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 2001;69:447-453.