Article
ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease.
Scientific reports - 23 Jan 2026
Kitahara Sho, Ando Shoichiro, Uemura Masahiro, Hatano Yuya, Nozaki Hiroaki, Hirozawa Daisuke, Nomura Emi, Okubo Kohei, Munekane Asami, Tashiro Takumi, Asai Kanako, Yamaoka Minako, Taneda Tomone, Honma Yutaka, Kondo Hajime, Itabashi Ryo, Iwanaga Akira, Murota Hiroyuki, Aizawa Hitoshi, Ishihara Tomohiko, Onodera Osamu
Abstract excerpt
ABCC6 pathogenic variants affect ischemic and hemorrhagic lesions in multiple organs and represent the third most common cause of hereditary cerebral small vessel diseases (CSVD) in Japan, yet their CSVD phenotypes remains unclear. We conducted a multicenter, cross-sectional study of 158 consecutive Japanese adults with severe CSVD. Genetic analysis was performed, and clinical and brain MRI findings were compared...
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