Article
High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.
Journal of neurology, neurosurgery, and psychiatry - 1 Jan 2023
Uemura Masahiro, Hatano Yuya, Nozaki Hiroaki, Ando Shoichiro, Kondo Hajime, Hanazono Akira, Iwanaga Akira, Murota Hiroyuki, Osakada Yosuke, Osaki Masato, Kanazawa Masato, Kanai Mitsuyasu, Shibata Yoko, Saika Reiko, Miyatake Tadashi, Aizawa Hitoshi, Ikeuchi Takeshi, Tomimoto Hidekazu, Mizuta Ikuko, Mizuno Toshiki, Ishihara Tomohiko, Onodera Osamu
Abstract excerpt
BACKGROUND: This study aimed to clarify the frequency and clinical features of monogenic cerebral small vessel disease (mgCSVD) among patients with adult-onset severe CSVD in Japan. METHODS: This study included patients with adult-onset severe CSVD with an age of onset ≤55 years (group 1) or >55 years and with a positive family history (group 2). After conducting conventional genetic tests for NOTCH3 and HTRA1,...
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