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Familial Cerebral Cavernous Malformations.

作者信息

Zafar Atif, Quadri Syed A, Farooqui Mudassir, Ikram Asad, Robinson Myranda, Hart Blaine L, Mabray Marc C, Vigil Catherine, Tang Alan T, Kahn Mark L, Yonas Howard, Lawton Michael T, Kim Helen, Morrison Leslie

机构信息

From the Departments of Neurology (A.Z., M.F., A.I., M.R., L.M.), University of New Mexico Health Sciences Center, University of New Mexico, Albuquerque.

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston (S.A.Q.).

出版信息

Stroke. 2019 May;50(5):1294-1301. doi: 10.1161/STROKEAHA.118.022314.

DOI:10.1161/STROKEAHA.118.022314
PMID:30909834
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6924279/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b65/6924279/9fec85341c48/nihms-1059977-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b65/6924279/29ec9994c771/nihms-1059977-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b65/6924279/0dc3d87065dd/nihms-1059977-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b65/6924279/9fec85341c48/nihms-1059977-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b65/6924279/29ec9994c771/nihms-1059977-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b65/6924279/0dc3d87065dd/nihms-1059977-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b65/6924279/9fec85341c48/nihms-1059977-f0003.jpg

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Common and distinct circulating microRNAs in four neurovascular disorders.四种神经血管疾病中常见和独特的循环微小RNA
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Medial temporal lobe cavernous malformation associated with epilepsy misdiagnosed as gastrointestinal disease: A case report.

本文引用的文献

1
Plasma Biomarkers of Inflammation and Angiogenesis Predict Cerebral Cavernous Malformation Symptomatic Hemorrhage or Lesional Growth.血浆炎症和血管生成生物标志物可预测海绵状血管畸形症状性出血或病灶生长。
Circ Res. 2018 Jun 8;122(12):1716-1721. doi: 10.1161/CIRCRESAHA.118.312680. Epub 2018 May 2.
2
Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.脑海绵状血管畸形：患病率、分子遗传学分析及遗传咨询的最新进展
Mol Syndromol. 2018 Feb;9(2):60-69. doi: 10.1159/000486292. Epub 2018 Jan 25.
3
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.
误诊为胃肠道疾病的内侧颞叶海绵状血管畸形伴癫痫：一例报告
J Int Med Res. 2025 Jul;53(7):3000605251358034. doi: 10.1177/03000605251358034. Epub 2025 Jul 24.
4
Detection of venous angiomas on susceptibility enhanced magnetic resonance imaging in patients with seizures.癫痫患者在磁敏感增强磁共振成像上静脉血管瘤的检测
Neurosciences (Riyadh). 2025 Jul;30(3):189-192. doi: 10.17712/nsj.2025.3.20240103.
5
Co-occurrence of familial cerebral cavernous malformations and tuberculous meningitis.家族性脑海绵状畸形与结核性脑膜炎的共现。
Oxf Med Case Reports. 2025 Jun 27;2025(6):omaf071. doi: 10.1093/omcr/omaf071. eCollection 2025 Jun.
6
Clinical Significance of Somatic PIK3CA and MAP3K3 Mutations in Cerebral and Spinal Cavernous Malformations.体细胞PIK3CA和MAP3K3突变在脑和脊髓海绵状血管畸形中的临床意义
Transl Stroke Res. 2025 Jun 6. doi: 10.1007/s12975-025-01360-2.
7
High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteins.人血管类器官的高通量分化揭示了脑海绵状血管畸形蛋白的重叠和独特功能。
Angiogenesis. 2025 Jun 6;28(3):32. doi: 10.1007/s10456-025-09985-5.
8
Freiburg Neuropathology Case Conference: Gait Ataxia, Segmental Hypoesthesia, and Combined Incontinence in a 57-Years-Old Patient.弗莱堡神经病理学病例研讨会：一名57岁患者的步态共济失调、节段性感觉减退和混合性尿失禁
Clin Neuroradiol. 2025 May 13. doi: 10.1007/s00062-025-01528-1.
9
Plasma biomarkers in patients with familial cavernous malformation and their first-degree relatives: a cross-sectional study.家族性海绵状血管畸形患者及其一级亲属的血浆生物标志物：一项横断面研究。
Sci Rep. 2025 Apr 2;15(1):11284. doi: 10.1038/s41598-025-91141-6.
10
Hereditary Haemorrhagic Cerebrovascular Disease: Implications for Clinical Management.遗传性出血性脑血管病：对临床管理的启示
Ann Neurosci. 2025 Mar 18:09727531241308346. doi: 10.1177/09727531241308346.
通过全基因组测序首次鉴定出家族性脑海绵状血管畸形中的大型基因组倒位。
Neurogenetics. 2018 Jan;19(1):55-59. doi: 10.1007/s10048-017-0531-7. Epub 2017 Dec 2.
4
Thrombospondin1 (TSP1) replacement prevents cerebral cavernous malformations.血小板反应蛋白1（TSP1）替代可预防脑海绵状血管畸形。
J Exp Med. 2017 Nov 6;214(11):3331-3346. doi: 10.1084/jem.20171178. Epub 2017 Sep 28.
5
Plasma Biomarkers of Inflammation Reflect Seizures and Hemorrhagic Activity of Cerebral Cavernous Malformations.血浆炎症生物标志物反映海绵状脑血管瘤的癫痫发作和出血活动。
Transl Stroke Res. 2018 Feb;9(1):34-43. doi: 10.1007/s12975-017-0561-3. Epub 2017 Aug 17.
6
Quantitative susceptibility mapping as a monitoring biomarker in cerebral cavernous malformations with recent hemorrhage.定量磁敏感图作为近期出血性脑海绵状血管畸形的监测生物标志物。
J Magn Reson Imaging. 2018 Apr;47(4):1133-1138. doi: 10.1002/jmri.25831. Epub 2017 Aug 9.
7
Prevalence of cerebral cavernous malformations associated with developmental venous anomalies increases with age.与发育性静脉异常相关的脑海绵状血管畸形的患病率随年龄增长而增加。
Childs Nerv Syst. 2017 Sep;33(9):1539-1543. doi: 10.1007/s00381-017-3484-0. Epub 2017 Jun 22.
8
Population-Based Prevalence of Cerebral Cavernous Malformations in Older Adults: Mayo Clinic Study of Aging.老年人脑海绵状血管畸形的基于人群的患病率：梅奥诊所衰老研究
JAMA Neurol. 2017 Jul 1;74(7):801-805. doi: 10.1001/jamaneurol.2017.0439.
9
Endothelial TLR4 and the microbiome drive cerebral cavernous malformations.内皮细胞Toll样受体4（TLR4）与微生物群引发脑海绵状血管瘤。
Nature. 2017 May 18;545(7654):305-310. doi: 10.1038/nature22075. Epub 2017 May 10.
10
Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel.脑海绵状血管畸形临床管理指南概要：基于血管瘤联盟科学咨询委员会临床专家小组系统文献综述的共识建议
Neurosurgery. 2017 May 1;80(5):665-680. doi: 10.1093/neuros/nyx091.