{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T09:53:41Z","timestamp":1788170021540,"version":"build-2803163510"},"reference-count":46,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T00:00:00Z","timestamp":1694044800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100017594","name":"Medical Science and Technology Project of Zhejiang Province","doi-asserted-by":"publisher","award":["2021KY879"],"award-info":[{"award-number":["2021KY879"]}],"id":[{"id":"10.13039\/501100017594","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Primary familial brain calcification (PFBC) is a rare hereditary neurodegenerative disorder associated with the <jats:italic>MYORG<\/jats:italic> gene; however, the clinical and radiological characteristics of <jats:italic>MYORG<\/jats:italic>\u2010PFBC remain unclear.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present relevant medical data obtained from a patient affected by PFBC with a novel <jats:italic>MYORG<\/jats:italic> variant and conducted a mutational analysis of <jats:italic>MYORG<\/jats:italic> in her family members. We reviewed all reported PFBC cases with biallelic <jats:italic>MYORG<\/jats:italic> mutations until April 1, 2023, and summarized the associated clinical and radiological features and mutation sites.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient (22\u2010year\u2010old woman) exhibited paroxysmal limb stiffness and dysarthria for 3\u2009years. Computed tomography revealed calcifications in the paraventricular white matter, basal ganglia, thalamus, and cerebellum. Whole\u2010exome sequencing revealed a novel homozygous frameshift variant (c.743delG: p.G248Afs*32) in exon 2 of the <jats:italic>MYORG<\/jats:italic> gene (NM_020702.5). To date, 62 families and 64 mutation sites have been reported. Among the reported biallelic <jats:italic>MYORG<\/jats:italic> mutations, 57% were homozygous and 43% were compound heterozygous. Individuals with biallelic <jats:italic>MYORG<\/jats:italic> mutations experience more severe brain calcification with approximately 100% clinical penetrance. Ten single heterozygous mutation sites are associated with significant brain calcifications.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>All patients with primary brain calcification, particularly younger patients without a family history of the disease, should be screened for <jats:italic>MYORG<\/jats:italic> mutations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2276","type":"journal-article","created":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T06:19:41Z","timestamp":1694153981000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Fahr's disease linked to a novel mutation in <i>MYORG<\/i> variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature 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