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

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 in Japanese populations, is termed cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL, or Maeda syndrome) because of its recessive inheritance pattern. In this study, rese…