Ontology highlight
ABSTRACT:
SUBMITTER: Ohta K
PROVIDER: S-EPMC7303461 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Ohta Kentaro K Ozawa Tetsuo T Fujinaka Hidehiko H Goto Kiyoe K Nakajima Takashi T
Internal medicine (Tokyo, Japan) 20200226 10
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 nonse ...[more]