Genetic Basis of an Autosomal Recessive Small-Vessel Disease of the Brain

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Several hereditary small-vessel diseases of the brain have been described. Some have been characterized as small-vessel arteriopathies with subcortical infarctions and MRI features that include lacunar infarctions and white-matter hyperintensities. The most common of these, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), is caused by mutations in the NOTCH3 gene. Another small-vessel cerebral arteriopathy with subcortical disease, alopecia, and spondylosis, as described …