Intracerebral Hemorrhage in Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

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Tác giả: Bin Cai, Mengting Fan, Ying Fu, Fangwei Hu, Huiqing Huang, Huimin Lv, Wenxin Qiu, Yuanrong Wang, Yijia Wu, Weijie Xie, Shuyan Xu, Tao Yang

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : European journal of neurology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 694187

 BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease (CSVD). Intracerebral hemorrhage (ICH) is reported to be increasing in CADASIL patients from areas where the p.R544C mutation is prevalent (e.g., Jeju and Chinese Taiwan) but is rare in Caucasians. We attempted to determine potentially genetic, clinical, and/or neuroimaging risk factors for ICH in Chinese CADASIL patients. METHODS: This retrospective observational study included 190 patients with CADASIL and 179 patients with sporadic CSVD. NOTCH3 genotypes as well as clinical and neuroimaging manifestations were compared between ICH and non-ICH patients, and both logistic regression and a subgroup analysis were used to adjust for confounding factors. RESULTS: Of 190 CADASIL patients in the present study, 43 patients (22.6%) had ICH lesions. A total of 62 ICH lesions were recorded. Thalamic ICH lesions were the most common (40.3%), followed by basal ganglia (32.3%) and temporal lobe (8.1%). In subgroup analysis, the ICH group had a higher prevalence of CMB than the non-ICH group, including in the basal ganglia region (58.3% vs. 23.3%, p = 0.037) and thalamus (75.0% vs. 38.3%, p = 0.020). The p.R544C mutation (aOR 6.390
  95% CI, 1.308-31.225
  p = 0.022) and total SVD score (aOR 1.731
  95% CI, 1.003-2.990
  p = 0.049) were independently associated with ICH. CONCLUSIONS: ICH is a common clinical manifestation of CADASIL patients in southeast coastal China. Hypertension, total SVD score, and the p.R544C mutation are associated with CADASIL ICH. TRIAL REGISTRATION: ClinicalTrials.gov identifier: (NCT04318119).
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