Hiroyuki Ishiyama, Hyunjin Kim, Satoshi Saito, Soichi Takeda, Misa Takegami, Yumi Yamamoto, Soichiro Abe, Shinsaku Nakazawa, Tomotaka Tanaka, Kazuo Washida, Yoshiaki Morita, Seung-Taek Oh, Hee-Jae Jung, Jay Chol Choi, Yuriko Nakaoku, Jin Nakahara, Masatoshi Koga, Kazunori Toyoda, Kisaki Amemiya, Yoshihiko Ikeda, Kinta Hatakeyama, Ikuko Mizuta, Toshiki Mizuno, Kwang-Kuk Kim, Masafumi Ihara
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 118 patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in Japanese and Korean cohorts...
March 23, 2024: Annals of Neurology