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KMID : 0359720140320020117
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Journal of the Korean Neurological Association
2014 Volume.32 No. 2 p.117 ~ p.120
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An Adult Moyamoya Disease Confirmed by Ring Finger Protein 213 Gene Test and Radiological Studies
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Kwon Soon-Wook
Park Yun-Kyung
Moon Joon-Gyu
Jeong Woo-Kyo
Kim Dong-Yeop
Shin Jong-Hwa
Cha Ji-Hoon
Ki Chang-Seok
Bang Oh-Young
Kim Suk-Jae
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Abstract
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A 63-year-old female complained of transient dysarthria. MRA was conducted to evaluate this symptom, revealing distal
internal carotid artery occlusion with collateral vessel development, suggesting Moyamoya disease, which had not been
detected in MRA performed 5 years previously. Vascular risk factors and laboratory findings suggested no cardiac or autoimmune diseases. The diameter of stenosis of the middle cerebral artery on high-resolution MRI was 2.11 mm, and
genetic evaluation revealed mutation of the gene encoding ring finger protein 213 (RNF213). High-resolution MRI and gene studies are useful for distinguishing between Moyamoya disease and atherosclerosis.
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KEYWORD
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Moyamoya disease, Ring finger protein 213, High-resolution MRI
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