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Article

HTRA1-related autosomal dominant cerebral small vessel disease.

Chinese medical journal - 26 Oct 2020

Liu Jing-Yi, Zhu Yi-Cheng, Zhou Li-Xin, Wei Yan-Ping, Mao Chen-Hui, Cui Li-Ying, Peng Bin, Yao Ming

Abstract excerpt

BACKGROUND: Homozygous or compound heterozygous mutations in high temperature requirement serine peptidase A1 (HTRA1) gene are responsible for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recently, increasing evidence has shown that heterozygous HTRA1 mutations are also associated with cerebral small vessel disease (CSVD) with an autosomal dominant pattern...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33109952
DOI: 10.1097/CM9.0000000000001176
PMCID: PMC7817319

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