TY - JOUR
T1 - Genetics of cerebrovascular disorders
AU - Meschia, James F.
AU - Brott, Thomas G.
AU - Brown, Robert D.
PY - 2005/1
Y1 - 2005/1
N2 - 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 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 das 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.
AB - 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 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 das 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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U2 - 10.1016/s0025-6196(11)62969-8
DO - 10.1016/s0025-6196(11)62969-8
M3 - Article
C2 - 15667040
AN - SCOPUS:11344261990
SN - 0025-6196
VL - 80
SP - 122
EP - 132
JO - Mayo Clinic proceedings
JF - Mayo Clinic proceedings
IS - 1
ER -