Mendelian etiologies of stroke

There are many genetic disorders associated with an increased risk for stroke that may easily be overlooked in the evaluation of both adult and pediatric acute stroke victims. The recognition of a genetic disorder as the cause of a stroke has important implications not only for the immediate care of the stroke victim, but often also for others in the patient's family who may be at risk for the same disease and for whom preventive measures sometimes can be taken. We present here a comprehensive review of genetic disorders associated with stroke in the nongeriatric age groups for which a causative role in the evolution of stroke has been recognized or is likely. For each disorder, the major clinical and biochemical characteristics as well as the probable pathogenetic mechanisms of stroke are discussed, together with the appropriate testing required to screen for and confirm the diagnosis. The great variety of genetic disorders and mechanisms causing stroke underscores the increasing importance of understanding genetic disease for appropriate diagnosis and treatment of a common clinical problem affecting both children and adults.