Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.
Nature
; 383(6602): 707-10, 1996 Oct 24.
Article
em En
| MEDLINE
| ID: mdl-8878478
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 subcortical ischaemic events and vascular dementia and which is associated with diffuse white-matter abnormalities on neuroimaging. Pathological examination reveals multiple small, deep cerebral infarcts, a leukoencephalopathy, and a non-atherosclerotic, non-amyloid angiopathy involving mainly the small cerebral arteries. Severe alterations of vascular smooth-muscle cells are evident on ultrastructural analysis. We have previously mapped the mutant gene to chromosome 19. 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.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos Cerebrovasculares
/
Proteínas Proto-Oncogênicas
/
Receptores de Superfície Celular
/
Demência
/
Mutação
Limite:
Adult
/
Animals
/
Humans
Idioma:
En
Revista:
Nature
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
França