This review summarizes the clinical and genetic features of some of the mendelian and mitochondrial disorders associated with ischemic and hemorrhagic stroke and cerebrovascular malformations. For some conditions, such as sickle cell anemia and Fabry disease, specific diagnosis is important because there are proven disease-specific treatments. For other conditions that have as yet no proven disease-specific treatments, such as cerebral autosomal dominant arteriopathy and subcortical infarcts and leukoencephalopathy (CADASIL) and mitochondrial encephalopathy with lactic acidosis and strokelike symptoms (MELAS), a diagnosis has prognostic value and avoids exposing patients to unnecessary, potentially harmful therapeutic agents and diagnostic tests. The genetics of common stroke is also briefly reviewed.
Relationship Disclosure: Dr Meschia has received research support from the National Institutes of Neurological Disorders and Stroke and the Mayo Foundation for Medical Education and Research.
Unlabeled Use of Products/Investigational Use Disclosure: Dr Meschia has nothing to disclose.