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J Korean Neurol Assoc. 2014;32(2):117-120.
- An Adult Moyamoya Disease Confirmed by Ring Finger Protein 213
Gene Test and Radiological Studies
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Soonwook Kwon
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Department of Neurology, Radiology and Center for Imaging Science
and Laboratory Medicine & Genetics
, Samsung
Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
- Ring finger protein 213 유전자검사와
영상추적검사를 통해 확인한 성인 모야모야병
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권순욱, 박윤경 문준규 정우교 김동엽 신종화 차지훈
기창석
방오영 김석재
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성균관대학교 의과대학 삼성서울병원 신경과, 영상의학과
a
, 진단검사의학과성균관대학교 의과대학 삼성서울병원 신경과, 영상의학과
, 진단검사의학과
- Abstract
- 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. Key Words: Moyamoya disease, Ring finger protein 213, High-resolution MRI
Keywords :
- 초록
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