Stanislav Šutovský1, Andrej Blaho1, Branislav Kollár1, Pavol Šiarnik1, Peter Turčáni1
Considerable progress has been made in defining the underlying genetic basis of many monogenic stroke syndromes in last semi-century. The cause of monogenic stroke is mainly mutation of the gene causing complex pathologic phenotype which causes the impairment of the vessel wall, coagulation cascade or other critical site for the development of thrombotic process. These disorders were discovered either by back processing of known biochemical defects or through the linkage analysis in informative multiplex pedigrees. In this article we focus on the disorders affecting both small and large arteries (Fabry disease, homocystinuria, sickle cell disease) as well as on the protrombotic and mitochondrial disorders.