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Updated: May 23, 2025
Isolation and Cannulation of Cerebral Parenchymal Arterioles
Published on: May 23, 2016
Intracerebral Hemorrhage in Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts and
Fangwei Hu1,2, Weijie Xie1,2, Mengting Fan1
1Department of Neurology and Institute of Neurology, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Insights
Intracerebral hemorrhage (ICH) is common in Chinese Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) patients. The p.R544C mutation and high SVD score are key risk factors for ICH in this population.
Area of Science:
- Neurology
- Genetics
- Vascular Medicine
Background:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a prevalent hereditary cerebral small vessel disease (CSVD).
- Intracerebral hemorrhage (ICH) incidence varies geographically, being higher in populations with the p.R544C mutation, such as in parts of Asia, but less common in Caucasians.
- This study investigated risk factors for ICH in Chinese CADASIL patients.
Purpose of the Study:
- To identify genetic, clinical, and neuroimaging risk factors associated with intracerebral hemorrhage (ICH) in Chinese patients diagnosed with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).
Main Methods:
- A retrospective observational study involving 190 CADASIL patients and 179 patients with sporadic CSVD.
- Comparison of NOTCH3 genotypes, clinical features, and neuroimaging findings between patients with and without ICH.
- Logistic regression and subgroup analyses were employed to adjust for potential confounding factors.
Main Results:
- Among 190 CADASIL patients, 43 (22.6%) presented with ICH lesions.
- Thalamic hemorrhages were most frequent (40.3%), followed by basal ganglia (32.3%).
- The p.R544C mutation (aOR 6.390) and a higher total SVD score (aOR 1.731) were independently associated with ICH. The ICH group showed a higher prevalence of cerebral microbleeds (CMB).
Conclusions:
- Intracerebral hemorrhage (ICH) is a significant clinical manifestation in Chinese CADASIL patients from southeast coastal China.
- Hypertension, elevated total SVD score, and the presence of the p.R544C mutation are identified as key risk factors for ICH in CADASIL.
- These findings highlight the importance of specific genetic mutations and vascular risk factors in predicting ICH in CADASIL.
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).
