Prevalence, genetic and clinical characteristics in first-degree relatives of patients with familial cerebral cavernous malformations in China

被引：1

作者：

Li, Chunwang ^{[1
,2
]}

Zhuo, Lingyun ^{[1
]}

Kang, Yaqing ^{[3
]}

Liu, Penghui ^{[1
,2
]}

Huang, Weilin ^{[3
]}

Li, Qixuan ^{[1
,2
]}

Ma, Ke ^{[4
]}

Huang, Shuna ^{[4
]}

Lin, Xinru ^{[4
]}

Zhuang, Weiheng ^{[1
,2
]}

Wang, Haojie ^{[1
,2
]}

Chen, Darong ^{[1
]}

Wang, Huimin ^{[1
,2
]}

He, Qiu ^{[1
,2
]}

Gao, Zhuyu ^{[1
,2
]}

Niu, Xuegang ^{[1
,2
]}

Jing, Yajun ^{[1
,2
]}

Yan, Lingjun ^{[5
]}

Gao, Bin ^{[5
]}

Wang, Dengliang ^{[1
,2
]}

Lin, Shaowei ^{[6
]}

Wu, Siying ^{[6
]}

Lin, Yuanxiang ^{[1
,2
,5
,7
]}

Kang, Dezhi ^{[1
,2
,4
,5
,7
]}

Lin, Fuxin ^{[1
,2
,4
,5
,7
]}

机构：

[1] Fujian Med Univ, Affiliated Hosp 1, Neurosurg Res Inst, Dept Neurosurg, Fuzhou 350005, Fujian, Peoples R China

[2] Fujian Med Univ, Affiliated Hosp 1, Natl Reg Med Ctr, Binhai Campus ,Dept Neurosurg, Fuzhou 350212, Fujian, Peoples R China

[3] Fujian Med Univ, Affiliated Hosp 1, Dept Radiol, Fuzhou 350005, Fujian, Peoples R China

[4] Fujian Med Univ, Affiliated Hosp 1, Clin Res & Translat Ctr, Fuzhou 350005, Fujian, Peoples R China

[5] Fujian Med Univ, Affiliated Hosp 1, Fujian Prov Inst Brain Disorders & Brain Sci, Fuzhou 350005, Fujian, Peoples R China

[6] Fujian Med Univ, Sch Publ Hlth, Dept Epidemiol & Hlth Stat, Fuzhou 350122, Fujian, Peoples R China

[7] Fujian Med Univ, Affiliated Hosp 1, Fujian Prov Clin Res Ctr Neurol Dis, Fuzhou 350005, Fujian, Peoples R China

来源：

STROKE AND VASCULAR NEUROLOGY | 2025年 / 10卷 / 01期

基金：

中国国家自然科学基金;

关键词：

Genetics; NATURAL-HISTORY; MUTATION; VARIANTS; ADULTS; RATES; CCM;

D O I：

10.1136/svn-2023-003004

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective This study aims to investigate the prevalence of familial cerebral cavernous malformations (FCCMs) in first-degree relatives (FDRs) using familial screening, to describe the distribution of initial symptoms, lesion count on cranial MRI and pathogenic gene in patients.Methods Patients with multiple CCMs who enrolled from the Treatments and Outcomes of Untreated Cerebral Cavernous Malformations in China database were considered as probands and FDRs were recruited. Cranial MRI was performed to screen the CCMs lesions, and whole-exome sequencing was performed to identify CCM mutations. MRI and genetic screening were combined to diagnose FCCM in FDRs, and the results were presented as prevalence and 95% CIs. The Kaplan-Meier (KM) method was used to calculate the cumulative incidence of FCCM.Results 33 (76.74%) of the 43 families (110 FDRs) were identified as FCCM (85 FDRs). Receiver operating characteristic analysis revealed three lesions on T2-weighted imaging (T2WI) were the strong indicator for distinguishing probands with FCCM (sensitivity, 87.10%; specificity, 87.50%). Of the 85 FDRs, 31 were diagnosed with FCCM, resulting in a prevalence of 36.5% (26.2%-46.7%). In families with FCCMs, the mutation rates for CCM1, CCM2 and CCM3 were 45.45%, 21.21% and 9.09%, respectively. Furthermore, 53.13% of patients were asymptomatic, 17.19% were intracranial haemorrhage and 9.38% were epilepsy. The mean age of symptom onset analysed by KM was 46.67 (40.56-52.78) years.Conclusion Based on MRI and genetic analysis, the prevalence of CCMs in the FDRs of families with FCCMs in China was 36.5%. Genetic counselling and MRI screening are recommended for FDRs in patients with more than three CCM lesions on T2WI.

引用

页码：45 / 54

页数：10

共 38 条

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