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Updated: Jul 6, 2025
Longitudinal In Vivo Imaging of the Cerebrovasculature: Relevance to CNS Diseases
Published on: December 6, 2016
CADASIL: A NOTCH3-associated cerebral small vessel disease
Lamei Yuan1, Xiangyu Chen2, Joseph Jankovic3
1Health Management Center, the Third Xiangya Hospital, Central South University, Changsha, China; Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China; Disease Genome Research Center, Central South University, Changsha, China; Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic small vessel disease caused by NOTCH3 mutations. This review explores CADASIL pathogenesis, diagnosis, and treatment, highlighting NOTCH3
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease (CSVD).
- Pathologically, CADASIL involves a non-atherosclerotic, non-amyloid angiopathy affecting cerebral arteries.
- NOTCH3 gene mutations were identified as the cause in 1996, though other genetic CSVDs mimic the phenotype.
Purpose of the Study:
- To review current progress in CADASIL, focusing on clinical, neuroimaging, pathological, and genetic aspects.
- To provide insights into the pathogenesis, diagnosis, and personalized therapy of hereditary CSVDs.
- To highlight the role of NOTCH3 mutations in CADASIL and differential diagnoses.
Main Methods:
- Literature review of studies on CADASIL and other hereditary CSVDs.
- Synthesis of current knowledge on clinical presentation, neuroimaging findings, and pathology.
- Analysis of genetic factors, diagnostic criteria, and therapeutic strategies.
Main Results:
- NOTCH3 mutations are central to CADASIL, a well-recognized hereditary disorder.
- Other genetic CSVDs can present similarly, necessitating careful differential diagnosis.
- Understanding NOTCH3's role in pathogenesis remains an active area of research.
Conclusions:
- CADASIL is a distinct NOTCH3-associated CSVD, but shares features with other hereditary CSVDs.
- Comprehensive understanding of clinical, genetic, and pathological aspects is crucial for diagnosis and management.
- Further research is needed to elucidate the precise role of NOTCH3 in CADASIL pathogenesis.
