Case report: Two unique nonsense mutations in HTRA1 -related cerebral small vessel disease in a Chinese population and literature review.

Weijie Chen,Yuanyuan Wang,Shengwen Huang,Xiaoli Yang,Liwei Shen,Danhong Wu

Frontiers in neurology（2022）

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摘要

This case report expands the clinical, radiographic, and genetic spectrum of -CSVD. Attention should be paid to young patients with ischemic stroke as the first clinical manifestation. Genetic screening for such sporadic CSVD is recommended, even if the symptoms are atypical.

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HTRA1,cerebral small vessel disease,heterozygous mutations,ischemic stroke,nonsense

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