NTU HIGHLIGHTS

Dr. Chih-Hao Chen, Neurology

Stroke is one of the world’s leading causes of death and disability, often linked to high blood pressure, diabetes, and high cholesterol. But not all strokes stem from lifestyle factors—some are written in our genes.

This possibility became reality with the discovery of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), a rare inherited disease caused by mutations in the NOTCH3 gene. People with CADASIL often develop migraines, early-onset strokes, mood changes, and dementia due to damage in small brain vessels.

Taiwan has played a pivotal role in uncovering how genetics influences stroke. In 2004, Dr. Jiann-Shing Jeng and Dr. Sung-Chun Tang identified Taiwan’s first CADASIL family, confirming the diagnosis through both biopsy and genetic testing. Later, researchers discovered that “70% of Taiwanese CADASIL patients share the same NOTCH3 mutation: R544C” suggesting a founder effect passed down through generations.

Surprisingly, this mutation isn’t rare. Large-scale studies led by NTUH revealed that nearly 1 in 100 Taiwanese adults carry the mutation, and carriers face up to three times the risk of stroke. High blood pressure or diabetes multiplies that risk even further.

Beyond stroke, CADASIL affects cognition, walking ability, and even vision. NTUH researchers have linked these symptoms to changes observed in brain imaging, retinal scans, and nerve changes, paving the way for new diagnostic tools. Since 2024, NTUH has offered genetic counseling and personalized care for affected families in Taiwan’s first Small Vessel Disease Clinic.