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Article

Development of atherosclerotic-moyamoya syndrome with genetic variant of RNF213 p.R4810K and p.T1727M: A case report.

Clinical neurology and neurosurgery - 1 May 2018

Liu Ying, Wu Xueying, Fan Zhaoyang, Cheng Jingdan, Zhong Lele, Lin Yongzhong, Qu Xiaofeng

Abstract excerpt

OBJECTIVE: We report a rare case of atherosclerotic-moyamoya syndrome (A-MMS) in an adult female with genetic variant of both ring finger 213 (RNF213) p.R4810K and p.T1727M. CASE REPORT: A 46-year-old previously healthy, right-handed woman displayed transient slurred speech, which started to worsen four years ago. Initial magnetic resonance angiography (MRA) revealed stenosis in left middle cerebral artery (MCA),...

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PMID: 29567577
DOI: 10.1016/j.clineuro.2018.01.034

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MMD

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