Cerebral small vessel disease related to a heterozygous nonsense mutation in HtrA1

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Abstract

Homozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, a very rare hereditary cerebral small-vessel disease (SVD). Recently, the relationship between some heterozygous HTRA1 mutations, most of which are missense, and the occurrence of cerebral SVD has been reported. We herein report a patient with cerebral SVD carrying a heterozygous nonsense p.R302X mutation in HTRA1. This patient had a family history of cerebral infarction. This report suggests that a heterozygous p.R302X mutation in HTRA1 causes an autosomal dominant cerebral SVD.

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Ohta, K., Ozawa, T., Fujinaka, H., Goto, K., & Nakajima, T. (2020). Cerebral small vessel disease related to a heterozygous nonsense mutation in HtrA1. Internal Medicine, 59(10), 1309–1313. https://doi.org/10.2169/internalmedicine.4041-19

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