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

• Tác giả: Darong Chen, Bin Gao, Zhuyu Gao, Qiu He, Shuna Huang, Weilin Huang, Yajun Jing, Dezhi Kang, Yaqing Kang, Chunwang Li, Qixuan Li, Fuxin Lin, Shaowei Lin, Xinru Lin, Yuanxiang Lin, Penghui Liu, Ke Ma, Xuegang Niu, Dengliang Wang, Haojie Wang, Huimin Wang, Siying Wu, Lingjun Yan, Weiheng Zhuang, Lingyun Zhuo
• Ngôn ngữ: eng
• Ký hiệu phân loại: 133.594 Types or schools of astrology originating in or associated with a
• Thông tin xuất bản: England : Stroke and vascular neurology , 2025
• Bộ sưu tập: NCBI
• ID: 699610

Tóm tắt

 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 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.