{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T22:20:04Z","timestamp":1768688404840,"version":"3.49.0"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T00:00:00Z","timestamp":1716768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurosci."],"abstract":"<jats:p>Primary familial brain calcification (PFBC) is a rare genetic neurodegenerative disorder characterized by bilateral calcifications in the brain. PFBC may manifest with a broad spectrum of motor, cognitive, and neuropsychiatric symptoms. Several causal genes have been identified in PFBC, which are inherited as both autosomal dominant and autosomal recessive traits. Herein, we present the case of a Chinese family diagnosed with PFBC. The family members carry a rare heterozygous variant (p. R334Q) in exon 7 of <jats:italic>platelet-derived growth factor receptor \u03b2<\/jats:italic> (<jats:italic>PDGFRB<\/jats:italic>) gene. The platelet-derived growth factor-B\/PDGF receptor <jats:italic>\u03b2<\/jats:italic> (PDGF-B\/PDGFR\u03b2) signaling pathway plays a crucial role in pericyte development in various organs and tissues. Notably, this variant uniquely coexists with nontraumatic osteonecrosis of the femoral head. Additionally, we reviewed previous studies on PFBC-causing variants in <jats:italic>PDGFRB<\/jats:italic>.<\/jats:p>","DOI":"10.3389\/fnins.2024.1381840","type":"journal-article","created":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T04:27:42Z","timestamp":1716784062000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case report: Primary familial brain calcification associated with a rare PDGFRB variant, coexisting with nontraumatic osteonecrosis of the femoral head"],"prefix":"10.3389","volume":"18","author":[{"given":"Conghui","family":"Cao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoli","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,5,27]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"1323","DOI":"10.12669\/pjms.306.5878","article-title":"High prevalence of protein C, protein S, antithrombin deficiency, and factor V Leiden mutation as a cause of hereditary thrombophilia in patients of venous thromboembolism and cerebrovascular accident","volume":"30","author":"Ali","year":"2014","journal-title":"Pak. 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Genomic Med."},{"key":"ref18","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1001\/jamaneurol.2014.3889","article-title":"Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization","volume":"72","author":"Tadic","year":"2015","journal-title":"JAMA Neurol."},{"key":"ref19","doi-asserted-by":"publisher","first-page":"e0143407","DOI":"10.1371\/journal.pone.0143407","article-title":"Functional characterization of germline mutations in Pdgfb and Pdgfrb in primary familial brain calcification","volume":"10","author":"Vanlandewijck","year":"2015","journal-title":"PLoS One"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1038\/jhg.2017.25","article-title":"Novel mutations of Pdgfrb cause primary familial brain calcification in Chinese families","volume":"62","author":"Wang","year":"2017","journal-title":"J. Hum. 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Neurol."},{"key":"ref22","doi-asserted-by":"publisher","first-page":"1116","DOI":"10.1016\/j.neuron.2018.05.037","article-title":"Biallelic mutations in Myorg cause autosomal recessive primary familial brain calcification","volume":"98","author":"Yao","year":"2018","journal-title":"Neuron"},{"key":"ref23","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1038\/s41421-022-00475-2","article-title":"Loss of function of Cmpk2 causes mitochondria deficiency and brain calcification","volume":"8","author":"Zhao","year":"2022","journal-title":"Cell Discov."}],"container-title":["Frontiers in Neuroscience"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fnins.2024.1381840\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T04:27:45Z","timestamp":1716784065000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fnins.2024.1381840\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,27]]},"references-count":23,"alternative-id":["10.3389\/fnins.2024.1381840"],"URL":"https:\/\/doi.org\/10.3389\/fnins.2024.1381840","relation":{},"ISSN":["1662-453X"],"issn-type":[{"value":"1662-453X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,27]]},"article-number":"1381840"}}