Journal ArticleDOI
Clinical spectrum of CADASIL: a study of 7 families
Hugues Chabriat,Katayoun Vahedi,M.G. Bousser,M. T. Iba-Zizen,Anne Joutel,A. Nibbio,T. Nagy,E. Tournier Lasserve,Marie-Odile Krebs,J. Julien,Xavier Ducrocq,M. Levasseur,Jean-Louis Mas,B. Dubois,P Homeyer,O Lyon-Caen +15 more
TLDR
In this paper, the authors studied 148 subjects belonging to seven families by magnetic resonance imaging and genetic linkage analysis and found that all symptomatic subjects had prominent signal abnormalities on MRI with hyperintense lesions on T2-weighted images in the subcortical white matter and basal ganglia.About:
This article is published in The Lancet.The article was published on 1995-10-07. It has received 634 citations till now. The article focuses on the topics: CADASIL & CADASIL Syndrome.read more
Citations
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Journal ArticleDOI
Vascular Contributions to Cognitive Impairment and Dementia A Statement for Healthcare Professionals From the American Heart Association/American Stroke Association
Philip B. Gorelick,Angelo Scuteri,Sandra E. Black,Charles DeCarli,Steven M. Greenberg,Costantino Iadecola,Lenore J. Launer,Stéphane Laurent,Oscar L. Lopez,David L. Nyenhuis,Ronald C. Petersen,Julie A. Schneider,Christophe Tzourio,Donna K. Arnett,David A. Bennett,Helena C. Chui,Randall T. Higashida,Ruth Lindquist,Peter M. Nilsson,Gustavo C. Román,Frank W. Sellke,Sudha Seshadri +21 more
TL;DR: This scientific statement provides an overview of the evidence on vascular contributions to cognitive impairment and dementia and provides evidence that subcortical forms of VCI with white matter hyperintensities and small deep infarcts are common and risk markers for VCI are the same as traditional risk factors for stroke.
Journal ArticleDOI
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
Anne Joutel,Christophe Corpechot,Anne Ducros,Katayoun Vahedi,Hugues Chabriat,Philippe Mouton,Sonia Alamowitch,Valérie Domenga,Michaelle Cécillion,Emmanuelle Maréchal,Jacqueline Maciazek,Céline Vayssière,Corinne Cruaud,E. A. Cabanis,Marie Madeleine Ruchoux,Jean Weissenbach,Jean Francois Bach,Marie-Germaine Bousser,Elisabeth Tournier-Lasserve +18 more
TL;DR: The characterization of the human Notch3 gene, which was previously mapped to the CADASIL critical region, is reported, indicating that Notch 3 could be the defective protein in CADASil patients.
Book
Vascular Cognitive Impairment
John T. O'Brien,Timo Erkinjuntti,Barry Reisberg,Gustavo C. Román,Tohru Sawada,Leonardo Pantoni,John V. Bowler,Clive Ballard,Charles DeCarli,Philip B. Gorelick,Kenneth Rockwood,Alistair Burns,Serge Gauthier,Steven T. DeKosky +13 more
TL;DR: Findings from 5 large, randomized studies of the symptomatic treatment of probable and possible vascular dementia indicate that the presence of a cholinergic deficit is not required for the anticholinesterases to produce cognitive improvement, and so the cholin allergic hypothesis is neither necessary nor sufficient to explain the effects of these drugs.
Journal ArticleDOI
Management of Stroke in Infants and Children A Scientific Statement From a Special Writing Group of the American Heart Association Stroke Council and the Council on Cardiovascular Disease in the Young
E. Steve Roach,Meredith R. Golomb,Robert J. Adams,José Biller,Stephen R. Daniels,Gabrielle deVeber,Donna M. Ferriero,Blaise V. Jones,Fenella J. Kirkham,R. Michael Scott,Edward R. Smith +10 more
TL;DR: Evidence-based recommendations are provided for the prevention of ischemic stroke caused by sickle cell disease, moyamoya disease, cervicocephalic arterial dissection, and cardiogenic embolism.
Journal ArticleDOI
The phenotypic spectrum of CADASIL: clinical findings in 102 cases.
Martin Dichgans,M. Mayer,I. Uttner,Roland Brüning,Josef Müller-Höcker,G. Rungger,M. Ebke,Thomas Klockgether,Thomas Gasser +8 more
TL;DR: The phenotypic spectrum and natural history of the disease in 102 affected individuals from 29 families with biopsy‐proven CADASIL were delineated, and the extent of disability in different age groups was studied.
References
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Journal ArticleDOI
A second-generation linkage map of the human genome.
Jean Weissenbach,Gabor Gyapay,Colette Dib,Alain Vignal,Jean Morissette,Philippe Millasseau,Guy Vaysseix,Mark Lathrop,Mark Lathrop +8 more
TL;DR: A linkage map of the human genome has been constructed based on the segregation analysis of 814 newly characterized polymorphic loci containing short tracts of (C-A)n repeats in a panel of DNAs from eight large families.
Journal ArticleDOI
The behavioural and motor consequences of focal lesions of the basal ganglia in man
Kailash P. Bhatia,C D Marsden +1 more
TL;DR: The frequent occurrence of dystonia and less commonly of parkinsonism with lentiform lesions emphasize the motor roles of putamen and globus pallidus, and the more complex cognitive role of this basal ganglia structure.
Journal ArticleDOI
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
E. Tournier-Lasserve,Anne Joutel,J. Melki,Jean Weissenbach,G.M. Lathrop,Hugues Chabriat,Jean-Louis Mas,E. A. Cabanis,M Baudrimont,Jacqueline Maciazek +9 more
TL;DR: Genetic linkage analysis in two unrelated families and Multilocus analysis with the location scores method established the best estimate for the location of the affected gene within a 14 centimorgan interval bracketed by D19S221 and D19 S222 loci.
Related Papers (5)
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
Anne Joutel,Christophe Corpechot,Anne Ducros,Katayoun Vahedi,Hugues Chabriat,Philippe Mouton,Sonia Alamowitch,Valérie Domenga,Michaelle Cécillion,Emmanuelle Maréchal,Jacqueline Maciazek,Céline Vayssière,Corinne Cruaud,E. A. Cabanis,Marie Madeleine Ruchoux,Jean Weissenbach,Jean Francois Bach,Marie-Germaine Bousser,Elisabeth Tournier-Lasserve +18 more