Cerebral Autosomal Dominant Arteriopathy with Subcortical infarcts and Leukoencephalopathy (CADASIL)
https://www.neurology.org/doi/10.1212/NXG.0000000000200321
CADASIL is a rare genetic disease that affects the small blood vessels in the brain and can lead to strokes, migraines and progressive cognitive decline. It is caused by changes in the NOTCH3 gene. The current diagnosis and monitoring of CADASIL rely on brain imaging and genetic testing, which are not always easy to access. As an alternative, researchers are seeking disease markers in patients’ blood that could simplify detection and follow-up. The present study examined the potential of a specific protein fragment called the NOTCH3 extracellular domain (N3ECD). The research included two study groups, one in Korea and one in Japan, and compared the blood levels of N3ECD between CADASIL patients, healthy controls and individuals who experienced stroke. The results did not show any differences in N3ECD levels between any of the groups. N3ECD levels also showed no connection to clinical features of CADASIL or to brain MRI imaging markers. Interestingly, researchers found that N3ECD levels tended to increase with age, especially among individuals carrying certain variants of the NOTCH3 gene, which may provide interesting insights about how the disease develops. Overall, while findings suggest that N3ECD levels may reflect some biological changes, it does not appear helpful in the diagnosis of CADASIL or as a disease progression marker.