This review describes the clinical and radiographic features, genetic determinants, and treatment options for the most well-characterized monogenic disorders associated with stroke.
Stroke is a phenotype of many clinically important inherited disorders. Recognition of the clinical manifestations of genetic disorders associated with stroke is important for accurate diagnosis and prognosis. Genetic studies have led to the discovery of specific mutations associated with the clinical phenotypes of many inherited stroke syndromes.
Several inherited causes of stroke have established and effective therapies, further underscoring the importance of timely diagnosis.
Address correspondence to Dr Kevin Barrett, Mayo Clinic, 4500 San Pablo Road South, Cannaday 2E—Neurology, Jacksonville, Florida 32224-1865, email@example.com.
Relationship Disclosure: Dr Barrett receives support from the National Institute of Neurological Disorders and Stroke for his role in the Stroke Hyperglycemia Insulin Network Effort (SHINE) trial and has received a speaking honorarium for a Lee Memorial Health System continuing medical education course. Dr Meschia receives support from the National Institute of Neurological Disorders and Stroke for his roles in the Carotid Revascularization Endarterectomy versus Stenting Trial (CREST) and the Stroke Genetics Network (SiGN).
Unlabeled Use of Products/Investigational Use Disclosure: Drs Barrett and Meschia report no disclosures.