Article
Primary familial brain calcifications linked with a novel SLC20A2 gene mutation in a Chinese family.
Journal of neurogenetics - 1 Sept 2017
Mi Tao-Mian, Mao Wei, Cai Yan-Ning, Yang Cai-Xia, Wang Chao-Dong, Xu Er-He, Zhang Hui, Chan Piu
Abstract excerpt
It has been recently reported that mutations in SLC20A2 gene are a major cause of primary familial brain calcifications, a rare neurodegenerative disorder characterized by symmetrical and bilateral intracranial calcification. We conducted a pedigree study by performing next Generation Sequencing in a Chinese family with three generations. Three members in this family developed Parkinsonism in their sixth decade,...
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