AUTHOR=Song Tingwei , Zhao Yuwen , Wen Guo , Du Juan , Xu Qian TITLE=A novel MYORG mutation causes primary familial brain calcification with migraine: Case report and literature review JOURNAL=Frontiers in Neurology VOLUME=14 YEAR=2023 URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1110227 DOI=10.3389/fneur.2023.1110227 ISSN=1664-2295 ABSTRACT=
Primary familial brain calcification (PFBC) is a disorder in which pathologic calcification of the basal ganglia, cerebellum, or other brain regions with bilateral symmetry occurs. Common clinical symptoms include dysarthria, cerebellar symptoms, motor deficits, and cognitive impairment. Genetic factors are an important cause of the disease; however autosomal recessive (AR) inheritance is rare. In 2018, the myogenesis-regulated glycosidase (