ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke

Background: Missense mutations in the gene that codes for smooth muscle actin, ACTA2, cause diffuse smooth muscle dysfunction and a distinct cerebral arteriopathy collectively known as multisystemic smooth muscle dysfunction syndrome (MSMDS). Until recently, ACTA2 cerebral arteriopathy was considere...

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Veröffentlicht in:	Cerebrovascular diseases (Basel, Switzerland) Switzerland), 2018-01, Vol.46 (3-4), p.159-169
Hauptverfasser:	Cuoco, Joshua A., Busch, Christopher M., Klein, Brendan J., Benko, Michael J., Stein, Rachel, Nicholson, Andrew D., Marvin, Eric A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Actin Actins - genetics Adolescent Adult Angiography, Digital Subtraction Cerebral Angiography - methods Cerebral Arterial Diseases - diagnostic imaging Cerebral Arterial Diseases - genetics Cerebral Arterial Diseases - physiopathology Cerebral Arterial Diseases - surgery Cerebral Arteries - physiopathology Cerebral Arteries - surgery Child Child, Preschool Development and progression Female Genetic aspects Genetic Association Studies Genetic Predisposition to Disease Humans Infant Infant, Newborn Magnetic Resonance Angiography Male Medical research Moyamoya Disease - diagnostic imaging Moyamoya Disease - genetics Moyamoya Disease - physiopathology Moyamoya Disease - surgery Muscle proteins Muscle, Smooth, Vascular - diagnostic imaging Muscle, Smooth, Vascular - physiopathology Muscle, Smooth, Vascular - surgery Mutation, Missense Neurosurgical Procedures Phenotype Prognosis Review Risk Factors Stroke
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