TY - JOUR
T1 - Inherited metabolic disorders and stroke part 1
T2 - Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
AU - Testai, Fernando D.
AU - Gorelick, Philip B.
PY - 2010/1
Y1 - 2010/1
N2 - Inherited metabolic disorders are single-gene genetic diseases associated with multiorgan damage. Some of these conditions increase the risk of stroke through a variety of mechanisms, and there is evidence that early recognition and initiation of appropriate treatment may improve prognosis. In this 2-part review we provide an update of the genetics, stroke pathophysiology, clinical manifestations, diagnosis, and treatment of metabolic disorders associated with stroke. In part 1, we concentrate on Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. In part 2 we will review homocystinuria, organic acidurias, and urea cycle disorders.
AB - Inherited metabolic disorders are single-gene genetic diseases associated with multiorgan damage. Some of these conditions increase the risk of stroke through a variety of mechanisms, and there is evidence that early recognition and initiation of appropriate treatment may improve prognosis. In this 2-part review we provide an update of the genetics, stroke pathophysiology, clinical manifestations, diagnosis, and treatment of metabolic disorders associated with stroke. In part 1, we concentrate on Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. In part 2 we will review homocystinuria, organic acidurias, and urea cycle disorders.
UR - http://www.scopus.com/inward/record.url?scp=74949124717&partnerID=8YFLogxK
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U2 - 10.1001/archneurol.2009.309
DO - 10.1001/archneurol.2009.309
M3 - Review article
C2 - 20065125
AN - SCOPUS:74949124717
SN - 0003-9942
VL - 67
SP - 19
EP - 24
JO - Archives of Neurology
JF - Archives of Neurology
IS - 1
ER -
