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Late-onset familial cerebral cavernous malformation without a family history: a case description.

作者信息

Zhang Zhuangzhuang, Sun Weiping, Wang Zhaoxia, Wei Luhua

机构信息

Department of Neurology, Peking University First Hospital, Beijing, China.

Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.

出版信息

Quant Imaging Med Surg. 2025 Sep 1;15(9):8717-8721. doi: 10.21037/qims-2025-760. Epub 2025 Aug 12.

DOI:10.21037/qims-2025-760
PMID:40893524
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12397702/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d4f/12397702/dae77b084528/qims-15-09-8717-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d4f/12397702/dae77b084528/qims-15-09-8717-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d4f/12397702/dae77b084528/qims-15-09-8717-f1.jpg

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本文引用的文献

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Cavernous Malformations of the Central Nervous System.中枢神经系统海绵状血管畸形
N Engl J Med. 2024 Mar 14;390(11):1022-1028. doi: 10.1056/NEJMra2305116.
2
The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain.波兰一女子患有多发脑动静脉畸形，该女子的首个潜在因果遗传变异得到记录。
Genes (Basel). 2023 Jul 27;14(8):1535. doi: 10.3390/genes14081535.
3
Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view.
中国家族性脑海绵状血管畸形的分子遗传学特征与临床表现：从一个新的KRIT1/CCM1突变（c.1119dupT）到整体概述
Front Neurosci. 2023 May 5;17:1184333. doi: 10.3389/fnins.2023.1184333. eCollection 2023.
4
A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.一个中国家族中伴有 KRIT1/CCM1 突变和 NOTCH3 突变的多发性脑海绵状血管畸形。
Neurogenetics. 2023 Apr;24(2):137-146. doi: 10.1007/s10048-023-00714-y. Epub 2023 Mar 9.
5
Five-year symptomatic hemorrhage risk of untreated brainstem cavernous malformations in a prospective cohort.未经治疗的脑干海绵状血管畸形患者的 5 年症状性出血风险：一项前瞻性队列研究。
Neurosurg Rev. 2022 Aug;45(4):2961-2973. doi: 10.1007/s10143-022-01815-2. Epub 2022 May 28.
6
Cerebral cavernous malformations do not fall in the spectrum of PIK3CA-related overgrowth.脑海绵状血管畸形不属于PIK3CA相关过度生长的范畴。
J Neurol Neurosurg Psychiatry. 2022 Apr 27. doi: 10.1136/jnnp-2022-328901.
7
Somatic Mutations in Sporadic Cerebral Cavernous Malformations.散发性脑动静脉畸形中的体细胞突变。
N Engl J Med. 2021 Sep 9;385(11):996-1004. doi: 10.1056/NEJMoa2100440.
8
Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformation.体细胞 MAP3K3 突变定义了脑静脉畸形的一个亚类。
Am J Hum Genet. 2021 May 6;108(5):942-950. doi: 10.1016/j.ajhg.2021.04.005. Epub 2021 Apr 22.
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J Mol Neurosci. 2021 Sep;71(9):1876-1883. doi: 10.1007/s12031-021-01814-w. Epub 2021 Mar 2.