Abstract
Single gene stroke disorders are rare but important to consider in the differential diagnosis of cryptogenic stroke. The identification of these disorders has a significant prognostic value and may be instrumental in the development of an appropriate stroke prevention plan. In this review we summarize the clinical features, diagnosis, and treatment of the following single gene disorders: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL); Fabry disease; sickle cell disease; and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
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