Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

The study at Istanbul University examined 22 patients from 16 families with cerebral small vessel diseases CADASIL and CARASIL, focusing on the NOTCH3 and HTRA1 genes. Missense changes in the NOTCH3 gene were found in 18 cases, while pathogenic variants in the HTRA1 gene were detected in four patients. The research underscored the significance of molecular genetic investigation for clinical diagnosis and disease management, revealing genetic diversity and complexity in these arteriopathies. In a review of 752 CADASIL patients, common symptoms included stroke, cognitive impairment, and migraine, with leukoencephalopathy in 72% of cases. The study found that genetic mutations in the NOTCH3 and HTRA1 genes led to variable clinical outcomes, highlighting the need for genetic testing, counseling, and long-term follow-up to understand disease prognosis and provide psychological support to families.