Characterization of Heterozygous HTRA1 Mutations in Taiwanese Patients With Cerebral Small Vessel Disease [Clinical Sciences]

Conclusions—Heterozygous HTRA1 mutations account for 2.08% (7 of 337) of SVD in Taiwan. The clinical and neuroradiological features of HTRA1-related SVD and sporadic SVD are similar. These findings broaden the mutational spectrum of HTRA1 and highlight the pathogenic role of heterozygous HTRA1 mutations in SVD.
Source: Stroke - Category: Neurology Authors: Tags: Genetics, CADASIL, Neurogenesis Original Contributions Source Type: research