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Clinical Features and Surgical Outcomes of Patients With Moyamoya Disease and the Homozygous RNF213 p.R4810K Variant

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收录情况： ◇ SCIE

作者：
Qian Zhang[1,2,3,4] * ; Peicong Ge[1,2,3,4] ; Yonggang Ma[1,2,3,4] ; Dong Zhang[1,2,3,4] ; Rong Wang[1,2,3,4] ; Yan Zhang[1,2,3,4] ; Shuo Wang[1,2,3,4] ; Yong Cao[1,2,3,4] ; Meng Zhao[1,2,3,4] ; Jizong Zhao[1,2,3,4,*1] ;
机构： [1]Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China [2]China National Clinical Research Center for Neurological Diseases, Beijing, China [3]Center of Stroke, Beijing Institute for Brain Disorders, Beijing, China [4]Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease, Beijing, China
出处：
DOI： 10.1177/0883073819858264
ISSN：

关键词： clinical feature homozygote moyamoya disease RNF213 surgical outcome

摘要：
The ring-finger protein 213 (RNF213) gene is a major susceptibility gene for moyamoya disease. The homozygote of the p.R4810K variant on RNF213 exhibits an early onset age and severe form of moyamoya disease. We report 4 unrelated pediatric moyamoya disease cases with the homozygous p.R4810K variant and the long-term surgical outcomes. Published reports on surgical outcome of moyamoya disease case with the homozygous p.R4810K variant were reviewed. Cerebral angiography revealed classic angiographic findings of moyamoya disease in 7 hemispheres of the 4 children. All patients underwent successful indirect revascularization. Abundant collateral blood flow from the external carotid arteries to the internal carotid arteries was observed in all bypass procedures by angiography. Improvements in symptoms and cerebral blood volume were observed in all patients at long-term follow-up. This report is the first case series in the literature on the surgical management of these patients. These cases highlight the effectiveness of indirect revascularization for moyamoya disease patients with the homozygous p.R4810K variant. Early diagnosis and treatment are crucial to avoid irreversible neurologic deficits in these patients. © The Author(s) 2019.

基金：
This study was funded by the National Science and Technology Major Projects of China (2015BAI12B04), the Program of the National Natural Science Foundation of China (81870904), the Program of Capital Medical University Basic-Clinical Cooperation (17JL44), the Program of Natural Science Foundation of Capital Medical University (PYZ2017068), and the project of study abroad of Beijing Tiantan hospital.
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2018]版：
大类 | 4 区 医学
小类 | 4 区 临床神经病学 4 区 儿科
最新[2023]版：
大类 | 4 区 医学
小类 | 4 区 临床神经病学 4 区 儿科
JCR分区：
出版当年[2017]版：
Q3 PEDIATRICS Q4 CLINICAL NEUROLOGY
最新[2023]版：
Q2 PEDIATRICS Q3 CLINICAL NEUROLOGY

影响因子： 最新[2023版] 最新五年平均 出版当年[2017版] 出版当年五年平均 出版前一年[2016版] 出版后一年[2018版]

第一作者：
第一作者机构： [1]Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China [2]China National Clinical Research Center for Neurological Diseases, Beijing, China [3]Center of Stroke, Beijing Institute for Brain Disorders, Beijing, China [4]Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease, Beijing, China
通讯作者：
通讯机构： [1]Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China [2]China National Clinical Research Center for Neurological Diseases, Beijing, China [3]Center of Stroke, Beijing Institute for Brain Disorders, Beijing, China [4]Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease, Beijing, China [*1]Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, 119 South Fourth Ring Road West, Fengtai District, Beijing, Chinane for Cerebrovascular Disease, Beijing, China
推荐引用方式(GB/T 7714)：
Qian Zhang,Peicong Ge,Yonggang Ma,et al.Clinical Features and Surgical Outcomes of Patients With Moyamoya Disease and the Homozygous RNF213 p.R4810K Variant[J].Journal of child neurology.2019,883073819858264.doi:10.1177/0883073819858264.
APA：
Qian Zhang,Peicong Ge,Yonggang Ma,Dong Zhang,Rong Wang...&Jizong Zhao.(2019).Clinical Features and Surgical Outcomes of Patients With Moyamoya Disease and the Homozygous RNF213 p.R4810K Variant.Journal of child neurology,,
MLA：
Qian Zhang,et al."Clinical Features and Surgical Outcomes of Patients With Moyamoya Disease and the Homozygous RNF213 p.R4810K Variant".Journal of child neurology .(2019):883073819858264

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