Most common NOTCH3 mutations causing CADASIL or CADASIL-like cerebral small vessel disease: A systematic review.
2024Cerebral circulation - cognition and behavior
Boston G, Jobson D, Mizuno T, Ihara M, Kalaria RN
Plain English
This study looked at common genetic mutations linked to a brain disorder called CADASIL, which affects blood flow in the brain. The researchers found that six mutations are most often associated with the condition, with the p.R133C mutation being the most frequent. Notably, the p.R141C mutation leads to more severe symptoms, while those with the p.R544C mutation develop symptoms later, around 10 years later on average. Understanding these patterns helps doctors better predict disease progression and tailor treatments for affected patients.
Who this helps: This helps patients and their doctors in managing CADASIL symptoms more effectively.