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Brain calcification was assessed by total calcification score (TCS). Sanger sequencing of\n                      <jats:italic>SLC20A2<\/jats:italic>\n                      and whole\u2010exome sequencing were performed. Variants were classified by the American College of Medical Genetics and Genomics guidelines.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Eighty\u2010eight probands were genetically diagnosed with pathogenic or likely pathogenic variants in\n                      <jats:italic>SLC20A2<\/jats:italic>\n                      (75.86%),\n                      <jats:italic>PDGFRB<\/jats:italic>\n                      (2.30%),\n                      <jats:italic>PDGFB<\/jats:italic>\n                      (3.45%),\n                      <jats:italic>XPR1<\/jats:italic>\n                      (3.45%),\n                      <jats:italic>MYORG<\/jats:italic>\n                      (11.49%),\n                      <jats:italic>JAM2<\/jats:italic>\n                      (3.45%), and\n                      <jats:italic>NAA60<\/jats:italic>\n                      (1.15%). Totally, 29 unreported variants were detected. Autosomal recessive PBC (AR\u2010PBC) patients exhibited a higher rate of clinical symptoms compared to those with autosomal dominant PBC (AD\u2010PBC) (100.00% vs. 55.06%,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.001). In all PBC, advancing age showed associations with headache\/dizziness (odds ratio [OR]\u2009=\u20090.97,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.0241), cognitive dysfunction (OR\u2009=\u20091.07,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.0025), and psychiatric symptoms (OR\u2009=\u20091.05,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.0396). Regional calcification analysis showed that thalamic calcification scores were associated with cognitive impairment (OR\u2009=\u20091.34,\n                      <jats:italic>P\u2009=<\/jats:italic>\n                      \u20090.0026), followed by lenticular nucleus calcification with headache\/dizziness (OR\u2009=\u20091.55,\n                      <jats:italic>P\u2009=<\/jats:italic>\n                      \u20090.0046), cerebellar hemisphere calcification with motor symptoms (OR\u2009=\u20091.45,\n                      <jats:italic>P\u2009=<\/jats:italic>\n                      \u20090.0051), and caudate nucleus calcification with psychiatric manifestations (OR\u2009=\u20091.2,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.0351).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This large\u2010scale Chinese cohort study demonstrates the genetic spectrum of PBC and phenotypic characteristics in genetically diagnosed PBC, and also provides genotype\u2010imaging\u2010symptom correlations of PBC. \u00a9 2025 International Parkinson and Movement Disorder Society.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.30207","type":"journal-article","created":{"date-parts":[[2025,5,20]],"date-time":"2025-05-20T07:03:24Z","timestamp":1747724604000},"page":"1661-1668","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["The Genetic and Phenotypic Spectrum of Primary Brain Calcification in a Large Cohort from China"],"prefix":"10.1002","volume":"40","author":[{"given":"Zhiru","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Neurology, The Second Affiliated Hospital Zhejiang University School of Medicine  Hangzhou China"},{"name":"Department of Neurology Wenzhou Central Hospital  Wenzhou 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