Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1996-10

AUTHORS

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, Emmanuel-Alain Cabanis, Marie Madeleine Ruchoux, Jean Weissenbach, Jean François Bach, Marie Germaine Bousser, Elisabeth Tournier-Lasserve

ABSTRACT

STROKE is the third leading cause of death, and vascular dementia the second cause of dementia after Alzheimer's disease. CADASIL (for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) causes a type of stroke and dementia whose key features include recurrent sub-cortical ischaemic events and vascular dementia and which is associated with diffuse white-matter abnormalities on neuro-imaging1,2. Pathological examination reveals multiple small, deep cerebral infarcts, a leukoencephalopathy, and a non-atherosclerotic, non-amyloid angiopathy involving mainly the small cerebral arteries3. Severe alterations of vascular smooth-muscle cells are evident on ultrastructural analysis4. We have previously mapped the mutant gene to chromosome 19 (ref. 5). Here we report the characterization of the human Notch3 gene which we mapped to the CADASIL critical region. We have identified mutations in CADASIL patients that cause serious disruption of this gene, indicating that Notch3 could be the defective protein in CADASIL patients. More... »

PAGES

707-710

Journal

TITLE

Nature

ISSUE

6602

VOLUME

383

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/383707a0

    DOI

    http://dx.doi.org/10.1038/383707a0

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1043218935

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/8878478


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