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Updated: Jun 22, 2025
Isolation and Cannulation of Cerebral Parenchymal Arterioles
Published on: May 23, 2016
[The hereditary vessel disease CADASIL]
Olafur Arni Sveinsson1, Enrico Bernardo Arkink2, Brynhildur Thors3
1University of Iceland, Faculty of Medicine, 2Department of Neurology, University Hospital of Iceland, Reykjavik, Iceland.
Insights
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetic brain disorder caused by NOTCH3 gene mutations. It leads to stroke-like symptoms, cognitive decline, and characteristic neuroimaging findings.
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Background:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary small vessel disease.
- It is characterized by progressive white matter lesions, subcortical infarcts, and cognitive decline.
Purpose of the Study:
- To describe the genetic basis, clinical manifestations, and diagnostic features of CADASIL.
- To highlight the role of neuroimaging in identifying characteristic patterns of brain abnormalities.
Main Methods:
- Review of existing literature on CADASIL.
- Analysis of genetic mutations in the NOTCH3 gene.
- Correlation of clinical symptoms with neuroimaging findings.
Main Results:
- CADASIL is caused by autosomal dominant mutations in the NOTCH3 gene.
- Pathology involves granular osmiophilic material in small artery walls.
- Clinical presentation includes ischemic events, migraine with aura, mood disturbances, and cognitive impairment.
Conclusions:
- NOTCH3 gene mutations are the primary cause of CADASIL.
- Characteristic neuroimaging findings, especially white matter hyperintensities in specific brain regions, aid diagnosis.
- Understanding CADASIL is crucial for managing this progressive cerebrovascular disorder.
Abstract:
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary small vessel disease of the brain characterized by progressive white matter lesions, subcortical infarcts, and cognitive decline. This autosomal dominant disorder is caused by mutations in the NOTCH3 gene located on chromosome 19, resulting in the accumulation of granular osmiophilic material within the walls of small arteries and arterioles. Clinically, CADASIL typically manifests in mid-adulthood with recurrent ischemic events, migraine with aura, mood disturbances, and cognitive impairment. Neuroimaging plays a crucial role in the diagnosis of CADASIL, with characteristic findings including white matter hyperintensities particularly in the anterior temporal lobe and external capsule.
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