[Microangiopathy CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) - a chalange for general practitioner].

Small cerebral vessel disease is a relatively new group of angiopathies diagnosed more frequently thanks to common availability of neuroimaging. The most frequent and the most known disease which belongs to this group is CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). Despite the name, it is a generalized small vessel disease, in which symptoms of brain damage dominate. The disease manifests as recurrent ischemic strokes, progressing dementia, migraine and mental disorders – symptoms which usually appear in 4-5 decade of life in patients without typical risk factors for vascular disease. In neuroimaging hyperintense changes and small ischemic foci disseminated in the cerebral white matter are seen. CADASIL is caused by mutations in the NOTCH 3 gene, which lead to the degeneration and loss of smooth muscle cells in small arteries. The disease is diagnosed on the basis of the result of the genetic test and microscopic examination of blood vessels in the material derived from a skin or skinmuscle biopsy. Since more and more frequently new techniques of neuroimaging reveal changes in the cerebral white matter - often asymptomatic or/ and mistakenly diagnosed as demyelinating lesions - only knowledge about CADASIL and other microangiopathies allows to avoid diagnostic errors.