Imaging characteristics of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy carrying cysteine-altering or non-cysteine-altering NOTCH3 mutations
10.19845/j.cnki.zfysjjbzz.2026.0025
- VernacularTitle:携带半胱氨酸与非半胱氨酸NOTCH3突变的CADASIL患者影像学特点分析
- Author:
Xi CAO
1
;
Dian HE
1
Author Information
1. Department of Neurology， The Affiliated Hospital of Guizhou Medical University， Guiyang 550004， China
- Publication Type:Journal Article
- Keywords:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / NOTCH3 gene;
Cysteine-altering mutation;
Non-cysteine-altering mutation
- From:
Journal of Apoplexy and Nervous Diseases
2026;43(2):140-144
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the imaging characteristics of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy （CADASIL）carrying cysteine-altering versus non-cysteine-altering NOTCH3 mutations. Methods A retrospective analysis was performed for 19 patients with CADASIL who attended Department of Neurology，The Affiliated Hospital of Guizhou Medical University， among whom there were 16 patients with cysteine-altering mutations and 3 with non-cysteine-altering mutations， and PubMed database was searched to obtain 192 cases （158 patients with cysteine-altering mutations and 34 with non-cysteine-altering mutations）. The impact of these two types of mutations on lesion distribution in the temporal pole and external capsule was analyzed. Results The cysteine-altering mutation group had a significantly higher risk of temporal pole lesions compared with the non-cysteine-altering mutation group （OR=2.99，95%CI 1.37‒6.51，P=0.006）， and there was no significant difference in external capsule lesions between the two groups （OR=2.31，95%CI 0.75‒6.48，P=0.12）. External capsule lesions were associated with age （OR=1.04，95%CI 1.01‒1.07， P=0.02）.Sex showed no significant influence on lesion distribution（OR=1.72，95%CI 0.67‒4.67，P=0.27；temporal pole：OR=0.54，95%CI 0.27‒1.05， P=0.07）. Conclusion Cysteine-altering NOTCH3 mutations are an independent risk factor for temporal pole lesions，while external capsule lesions are closely associated with age. This suggests that temporal pole lesions might be a specific imaging marker for cysteine-altering mutations， whereas external capsule lesions can reflect age-related disease progression.
- Full text:2026060913445437117携带半胱氨酸与非半胱氨酸NOTCH3突变的CADASIL患者影像学特点分析.pdf
