Stroke is a complex disease resulting from the interplay of genetics and environment. In some
instances (mainly in young adults) stroke is the direct result of a monogenic disease. Among the monogenic
causes of stroke, the diseases which are most frequently encountered in the adult general neurological
practice are CADASIL, Fabry and mitochondrial diseases. Brain MRI and clinical features may frequently lead
to a correct molecular diagnosis. Here we review the single-gene causes of ischemic stroke, with special
regard to the associated features which may help in the diagnostic approach.
Keywords: CADASIL, Fabry disease, ischemia, MELAS, stroke.
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