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- Olafur Arni Sveinsson, Enrico Bernardo Arkink, and Brynhildur Thors.
- University of Iceland, Faculty of Medicine, 2Department of Neurology, University Hospital of Iceland, Reykjavik, Iceland.
- Laeknabladid. 2024 Jul 1; 110 (7): 360364360-364.
AbstractCerebral 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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