Genetics of Cerebrovascular Disorders

Meschia, James F.; Brott, Thomas G.; Brown Jr., Robert D.
January 2005
Mayo Clinic Proceedings;Jan2005, Vol. 80 Issue 1, p122
Academic Journal
Physicians must be able to recognize stroke caused by a mendelian or mitochondrial disorder. Some genetic disorders such as sickle cell anemia and Fabry disease have proven diseasespecific treatments, whereas others have no effective treatment, including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Proper diagnosis of a genetic disorder has prognostic value and prevents patient exposure to unnecessary and potentially harmful therapeutic agents and diagnostic tests. This article reviews the clinical and genetic features of some mendelian and mitochondrial disorders associated with ischemic stroke, hemorrhagic stroke, and cerebrovascular malformations.


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