Mutations in ARHGEF15 cause autosomal dominant hereditary cerebral small vessel disease and osteoporotic fracture.

doi:10.1007/s00401-023-02560-6

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Mutations in ARHGEF15 cause autosomal dominant hereditary cerebral small vessel disease and osteoporotic fracture.

Acta neuropathologica - 1 May 2023

Ding Xuebing, Chen Yongkang, Guo Cancan, Fu Yu, Qin Chi, Zhu Qingyong, Wang Jiuqi, Zhang Rui, Tian Haiyan, Feng Renyi, Liu Han, Liang Dongxiao, Wang Guanghui, Teng Junfang, Li Jinchen, Tang Beisha, Wang Xuejing

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Cerebral small vessel disease (CSVD) is a prominent cause of ischemic and hemorrhagic stroke and a leading cause of vascular dementia, affecting small penetrating vessels of the brain. Despite current advances in genetic susceptibility studies, challenges remain in defining the causative genes and the underlying pathophysiological mechanisms. Here, we reported that the ARHGEF15 gene was a causal gene linked to...

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Mutations in ARHGEF15 cause autosomal dominant hereditary cerebral small vessel disease and osteoporotic fracture.

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