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Several hereditary small vessel diseases (SVDs) of the brain have been described, some of which share the MRI features of lacunar infarctions and white matter hyperintensities (WMH). The most common of these, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), is caused by mutations in the NOTCH3 gene and results in recurrent ischemic strokes and progressive subcortical dementia. In the 1970s, researchers described a Swedish family with recurrent strokes and cognitive dysfunction and an English family with vascular encephalopathy, but the genetic mechanisms remained unclear. Now, researchers have attempted to determine whether these two familial disorders were in fact CADASIL.
The authors eva…