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- Kentaro Ohta, Tetsuo Ozawa, Hidehiko Fujinaka, Kiyoe Goto, and Takashi Nakajima.
- Department of Neurology, National Hospital Organization Niigata National Hospital, Japan.
- Intern. Med. 2020 May 15; 59 (10): 130913131309-1313.
AbstractHomozygous 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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