19 - Genetic Basis of Stroke Occurrence, Prevention, and Outcome

Abstract

Fabry disease is an X-linked recessive disorder caused by reduced alpha-galactosidase activity for which enzyme replacement therapy is available. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is a small-vessel stroke disorder caused by mutations in the NOTCH3 gene. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy is a stroke disorder caused by mutations in the HTRA1 gene. Homocysteinemia, commonly due to cystathionine-beta-synthase deficiency, can be treated with restriction in dietary methionine and vitamin B6 supplementation. Mitochondrial mutations can lead to a syndrome of encephalopathy, lactic acidosis, and stroke-like episodes known as mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. In children with sickle cell disease, transcranial Doppler ultrasound can define populations at high risk of stroke and transfusion therapy can dramatically reduce the risk of stroke. Mutations in COL4A1 can cause small-vessel stroke, cerebral hemorrhage, and the hereditary angiopathy, nephropathy, aneurysms, and cramps syndrome. Several single-gene disorders cause cerebral amyloid angiopathy. Several single-gene disorders cause cerebral cavernous malformations. Genome-wide association studies have identified risk loci for large-vessel and cardioembolic stroke.