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: Yi-Chung Lee, Chih-Ping Chung, Nai-Chen Chao, Jong-Ling Fuh, Feng-Chi Chang, Bing-Wing Soong, Yi-Chu Liao Tags: Genetics, CADASIL, Neurogenesis Original Contributions Source Type: research
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