Article
Pro-Hemorrhagic Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Associated with NOTCH3 p.R75P Mutation with Low Vascular NOTCH3 Aggregation Property.
Annals of neurology - 1 Jun 2024
Ishiyama Hiroyuki, Kim Hyunjin, Saito Satoshi, Takeda Soichi, Takegami Misa, Yamamoto Yumi, Abe Soichiro, Nakazawa Shinsaku, Tanaka Tomotaka, Washida Kazuo, Morita Yoshiaki, Oh Seung-Taek, Jung Hee-Jae, Choi Jay Chol, Nakaoku Yuriko, Nakahara Jin, Koga Masatoshi, Toyoda Kazunori, Amemiya Kisaki, Ikeda Yoshihiko, Hatakeyama Kinta, Mizuta Ikuko, Mizuno Toshiki, Kim Kwang-Kuk, Ihara Masafumi
Abstract excerpt
OBJECTIVES: Intracerebral hemorrhage (ICH) and cerebral microbleeds (CMB) in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy are more common in East Asian populations than in people of white European ancestry. We hypothesized that the ethnic difference is explained by the East Asian-specific NOTCH3 p.R75P mutation. METHODS: This retrospective observational study included...
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