Genetic causes of stroke

Studies of twins and other family structures have generally shown a tendency for stroke to cluster within families. Defining the molecular basis for the inherited risk of so-called common stroke is a work in progress. Although the genetics of common stroke are reviewed, this chapter focuses mainly on known mendelian and mitochondrial disorders that cause ischemic stroke, hemorrhagic stroke, and cerebrovascular malformations. Some genetic disorders, such as sickle cell anemia and Fabry disease, have proven therapies, whereas others have no effective treatment. However, it remains essential for physicians to diagnose even presently untreatable familial disorders. Early diagnosis of such genetic disorders spares patients from needless and potentially dangerous diagnostic tests and ineffective therapies. A precise diagnosis of a genetic disorder also permits rational family counseling. II. IMPORTANCE OF A DETAILED FAMILY HISTORY.