Ohta Kentaro, Ozawa Tetsuo, Fujinaka Hidehiko, Goto Kiyoe, Nakajima Takashi
Department of Neurology, National Hospital Organization Niigata National Hospital, Japan.
Department of Internal Medicine, National Hospital Organization Niigata National Hospital, Japan.
Intern Med. 2020 May 15;59(10):1309-1313. doi: 10.2169/internalmedicine.4041-19. Epub 2020 Feb 26.
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.
高温需求A丝氨酸蛋白酶1基因（HTRA1）的纯合或复合杂合突变会导致伴有皮质下梗死和白质脑病的脑常染色体隐性动脉病，这是一种非常罕见的遗传性脑小血管疾病（SVD）。最近，有报道称一些杂合的HTRA1突变（其中大多数为错义突变）与脑SVD的发生之间存在关联。我们在此报告一名患有脑SVD的患者，其HTRA1基因存在杂合性无义p.R302X突变。该患者有脑梗死家族史。本报告表明，HTRA1基因中的杂合p.R302X突变会导致常染色体显性脑SVD。
