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Article

Novel mutations in HTRA1-related cerebral small vessel disease and comparison with CADASIL.

Annals of clinical and translational neurology - 1 Oct 2022

Zhang Chen, Zheng Honghua, Li Xin, Li Shaowu, Li Wei, Wang Ziwei, Niu Songtao, Wang Xingao, Zhang Zaiqiang

Abstract excerpt

OBJECTIVE: There is evidence showing both heterozygous HTRA1 and homozygous HTRA1 mutations as causal for familial cerebral small vessel disease (CSVD). The clinical and neuroimaging signs of heterozygous HTRA1-related CSVD can mimic cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We aimed to characterize the genotypic and phenotypic features of HTRA1-related...

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PMID: 36047879
DOI: 10.1002/acn3.51654
PMCID: PMC9539375

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