CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy): an Australian perspective.
J Clin Neurosci
; 8(5): 404-6, 2001 Sep.
Article
en En
| MEDLINE
| ID: mdl-11535004
ABSTRACT
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL) is a recently described cause of stroke or stroke-like episodes. It is caused by mutations in the Notch3 gene on chromosome 19p. We sought to demonstrate mutations of the Notch3 gene in Australian patients suspected of having CADASIL. Patients from several families were referred to the study. A diagnosis was determined clinically and by neuroimaging. Those suspected of having CADASIL had sequencing of exons 3 and 4 of the Notch3 gene. Eight patients, two of whom were siblings, were suspected of having CADASIL. Five patients (including the siblings) had mutations. Because of strong clustering of Notch3 mutations in CADASIL, this has potential as a reliable test for the disease in Australian patients.
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Base de datos:
MEDLINE
Asunto principal:
Demencia por Múltiples Infartos
/
Proteínas Proto-Oncogénicas
/
Receptores de Superficie Celular
Tipo de estudio:
Diagnostic_studies
País/Región como asunto:
Oceania
Idioma:
En
Revista:
J Clin Neurosci
Asunto de la revista:
NEUROLOGIA
Año:
2001
Tipo del documento:
Article