Single Gene Causes of Stroke

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Though rare, monogenic causes of stroke are recognizable by key clinical and radiographic features. A lack of epidemiological data leaves their true incidence unknown, but the most common monogenetic causes of stroke are sickle cell disease, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), Fabry's disease, and cerebral cavernous malformations. In this article, the author covers the epidemiology, clinical features, and treatment of those diseases as well as other well-described monogenic causes of ischemic and hemorrhagic stroke. A “shotgun” approach to genetic testing should be avoided in favor of targeted testing that can provide a higher yield. Neurologists caring for stroke patients should be familiar with these monogenic causes of stroke, as heightened awareness and an armamentarium of additional diagnostic techniques will allow neurologists to diagnose correctly, implement individual distinct treatment paradigms, and provide future risk assessment.

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