Article
Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.
Brain : a journal of neurology - 1 Feb 2020
Cen Zhidong, Chen You, Chen Si, Wang Hong, Yang Dehao, Zhang Hongmei, Wu Hongwei, Wang Lebo, Tang Siyang, Ye Jia, Shen Jian, Wang Haotian, Fu Feng, Chen Xinhui, Xie Fei, Liu Peng, Xu Xuan, Cao Jianzhi, Cai Pan, Pan Qinqing, Li Jieying, Yang Wei, Shan Peng-Fei, Li Yuezhou, Liu Jing-Yu, Zhang Baorong, Luo Wei
Abstract excerpt
Primary familial brain calcification is a monogenic disease characterized by bilateral calcifications in the basal ganglia and other brain regions, and commonly presents motor, psychiatric, and cognitive symptoms. Currently, four autosomal dominant (SLC20A2, PDGFRB, PDGFB, XPR1) and one autosomal recessive (MYORG) causative genes have been identified. Compared with patients with autosomal dominant primary...
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