CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy): an Australian
1Department of Neurology, Royal Brisbane Hospital, Herston, QLD 4029, Australia.
Insights
Researchers identified Notch3 gene mutations in Australian patients with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL). This finding supports Notch3 gene sequencing as a reliable diagnostic test for CADASIL in Australia.
Area of Science:
- Genetics
- Neurology
- Vascular Diseases
Background:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL) is a genetic disorder causing stroke-like episodes.
- CADASIL is linked to mutations in the Notch3 gene located on chromosome 19p.
Purpose of the Study:
- To investigate the presence of Notch3 gene mutations in Australian patients clinically suspected of having CADASIL.
- To evaluate the diagnostic utility of Notch3 gene sequencing for CADASIL in the Australian population.
Main Methods:
- Clinical diagnosis and neuroimaging were used to identify patients with suspected CADASIL.
- Sequencing of exons 3 and 4 of the Notch3 gene was performed on eight patients from several families.
Main Results:
- Eight patients were suspected of having CADASIL, including two siblings.
- Notch3 gene mutations were identified in five of these patients, including the siblings.
Conclusions:
- The study demonstrates Notch3 gene mutations in Australian patients with suspected CADASIL.
- Notch3 gene sequencing shows potential as a reliable diagnostic test for CADASIL in Australia due to mutation clustering.
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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