1. Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine‐Altering Variants
- Author
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Yu‐Wen Cheng, Yi‐Chu Liao, Chih‐Hao Chen, Chih‐Ping Chung, Cathy S. J. Fann, Chien‐Ching Chang, Yi‐Chung Lee, and Sung‐Chun Tang
- Subjects
APOE ,CADASIL ,cerebral small‐vessel disease ,NOTCH3 ,vascular cognitive impairment ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most prevalent monogenic cerebral small‐vessel disease. Phenotype variability in CADASIL suggests the possible role of genetic modifiers. We aimed to investigate the contributions of the APOE genotype and Neurogenic locus notch homolog protein 3 (NOTCH3) variant position to cognitive impairment associated with CADASIL. Methods and Results Patients with the cysteine‐altering NOTCH3 variant were enrolled in a cross‐sectional study, including the Mini‐Mental State Examination (MMSE), brain magnetic resonance imaging, and APOE genotyping. Cognitive impairment was defined as an MMSE score
- Published
- 2023
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