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Genetics of cerebrovascular disorders Meschia JF; Brott TG; Brown RD JrMayo Clin Proc 2005[Jan]; 80 (1): 122-32Physicians 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 disease-specific 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 mendellan and mitochondrial disorders associated with ischemic stroke, hemorrhagic stroke, and cerebrovascular malformations.|Acidosis, Lactic/complications[MESH]|Anemia, Sickle Cell/complications[MESH]|CADASIL/complications[MESH]|Cerebrovascular Disorders/etiology/*genetics[MESH]|Fabry Disease/complications[MESH]|Humans[MESH]|Intracranial Arteriovenous Malformations/complications[MESH]|Mitochondrial Encephalomyopathies/complications[MESH]|Stroke/genetics[MESH] |
