Article
SLC20A2-related primary familial brain calcification with purely acute psychiatric symptoms: a case report.
BMC neurology - 18 Jul 2022
Bu Weiting, Hou Lijing, Zhu Meijia, Zhang Renyun, Zhang Xiaoyu, Zhang Xiao, Tang Jiyou, Liu Xiaomin
Abstract excerpt
BACKGROUND: Primary familial brain calcification (PFBC) is a rare inherited neurological disorder characterized by bilateral basal ganglia calcification with a series of motor and nonmotor symptoms. Mutations in the SLC20A2 gene, encoding the PiT2 protein, are the major cause of the disease. Here, we report a Chinese PFBC family carrying a SLC20A2 gene mutation, and the proband presented with purely acute...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.