European journal of neurology · 2025
Intracerebral Hemorrhage in Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
СтатьяНаблюдательное исследованиеНазвание и аннотация: Перевод пока не подготовлен
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Hu Fangwei, Xie Weijie, Fan Mengting, Wang Yuanrong, Xu Shuyan, Qiu Wenxin, Yang Tao, Lv Huimin, Huang Huiqing, Wu Yijia, Fu Ying, Cai Bin
Аннотация
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).
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).