{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:06:38Z","timestamp":1791417998086,"version":"4.3.3"},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,6,30]],"date-time":"2015-06-30T00:00:00Z","timestamp":1435622400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001677","name":"Inserm","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"crossref"}]},{"name":"CNR-MAJ"},{"DOI":"10.13039\/501100006162","name":"FACEPE","doi-asserted-by":"crossref","award":["APQ 1831-4.01\/12"],"award-info":[{"award-number":["APQ 1831-4.01\/12"]}],"id":[{"id":"10.13039\/501100006162","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003593","name":"CNPq","doi-asserted-by":"crossref","award":["457556\/2013-7"],"award-info":[{"award-number":["457556\/2013-7"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003593","name":"CNPq","doi-asserted-by":"crossref","award":["480255\/2013-0"],"award-info":[{"award-number":["480255\/2013-0"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003593","name":"CNPq","doi-asserted-by":"crossref","award":["307909\/2012-3"],"award-info":[{"award-number":["307909\/2012-3"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"crossref"}]},{"name":"NIH\/NINDS","award":["R01 NS040752"],"award-info":[{"award-number":["R01 NS040752"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Primary Familial Brain Calcification (PFBC) is a dominantly inherited cerebral microvascular calcifying disorder with diverse neuropsychiatric expression. Three causative genes have been identified:\n                      <jats:italic>SLC20A2<\/jats:italic>\n                      ,\n                      <jats:italic>PDGFRB<\/jats:italic>\n                      and, recently,\n                      <jats:italic>PDGFB<\/jats:italic>\n                      , whose associated phenotype has not yet been extensively studied. We included in the largest published case series of genetically confirmed PFBC, 19\n                      <jats:italic>PDGFB<\/jats:italic>\n                      (including three new mutations), 24\n                      <jats:italic>SLC20A2<\/jats:italic>\n                      (including 4 new mutations), and 14\n                      <jats:italic>PDGFRB<\/jats:italic>\n                      mutation carriers, from two countries (France and Brazil). We studied clinical features and applied our visual rating scale on all 49 available CT scans. Among the symptomatic mutation carriers (33\/57, 58%), the three most frequently observed categories of clinical features were psychiatric signs (72.7%, 76.5%, and 80% for\n                      <jats:italic>PDGFB<\/jats:italic>\n                      ,\n                      <jats:italic>SLC20A2<\/jats:italic>\n                      , and\n                      <jats:italic>PDGFRB<\/jats:italic>\n                      , respectively), movement disorders (45.5%, 76.5%, and 40%), and cognitive impairment (54.6%, 64.7%, and 40%). The median age of clinical onset was 31 years, 25% had an early onset (before 18) and 25% a later onset (after 53). Patients with an early clinical onset exhibited mostly isolated psychiatric or cognitive signs, while patients with a later onset exhibited mostly movement disorders, especially in association with other clinical features. CT scans rating allowed identifying four patterns of calcification. The total calcification score was best predicted by the combined effects of gene (\n                      <jats:italic>SLC20A2\u2009<\/jats:italic>\n                      &gt;\u2009\n                      <jats:italic>PDGFB\u2009<\/jats:italic>\n                      &gt;\u2009\n                      <jats:italic>PDGFRB<\/jats:italic>\n                      mutations), sex (male), and (increasing) age, defining three risk classes, which correlated with the four patterns of calcification. These calcification patterns could reflect the natural history of the calcifying process, with distinct risk classes characterized by different age at onset or rate of progression. \u00a9 2015 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.b.32336","type":"journal-article","created":{"date-parts":[[2015,6,30]],"date-time":"2015-06-30T08:15:56Z","timestamp":1435652156000},"page":"586-594","source":"Crossref","is-referenced-by-count":98,"title":["Brain calcification process and phenotypes according to age and sex: Lessons from\n                    <i>SLC20A2<\/i>\n                    ,\n                    <i>PDGFB<\/i>\n                    , and\n                    <i>PDGFRB<\/i>\n                    mutation carriers"],"prefix":"10.1002","volume":"168","author":[{"given":"Ga\u00ebl","family":"Nicolas","sequence":"first","affiliation":[{"name":"Department of Genetics Rouen University Hospital Rouen France"},{"name":"CNR\u2010MAJ Rouen University Hospital Rouen France"},{"name":"Inserm U1079 IRIB, Normandy University Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Charbonnier","sequence":"additional","affiliation":[{"name":"CNR\u2010MAJ Rouen University Hospital Rouen France"},{"name":"Inserm U1079 IRIB, Normandy University Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta Rodrigues","family":"de Lemos","sequence":"additional","affiliation":[{"name":"Keizo Asami Laboratory (LIKA) Universidade Federal de Pernambuco (UFPE) Recife Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Claire","family":"Richard","sequence":"additional","affiliation":[{"name":"CNR\u2010MAJ Rouen University Hospital Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Guillin","sequence":"additional","affiliation":[{"name":"Inserm U1079 IRIB, Normandy University Rouen France"},{"name":"University Department Rouvray Psychiatric Hospital and Rouen University Hospital Sotteville\u2010l\u00e8s\u2010Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Wallon","sequence":"additional","affiliation":[{"name":"CNR\u2010MAJ Rouen University Hospital Rouen France"},{"name":"Inserm U1079 IRIB, Normandy University Rouen France"},{"name":"Department of Neurology Rouen University Hospital Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Legati","sequence":"additional","affiliation":[{"name":"Department of Psychiatry David Geffen School of Medicine University of California Los Angeles Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Geschwind","sequence":"additional","affiliation":[{"name":"Department of Psychiatry David Geffen School of Medicine University of California Los Angeles Los Angeles California USA"},{"name":"Deparment of Neurology, David Geffen School of Medicine University of California Los Angeles Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Coppola","sequence":"additional","affiliation":[{"name":"Department of Psychiatry David Geffen School of Medicine University of California Los Angeles Los Angeles California USA"},{"name":"Deparment of Neurology, David Geffen School of Medicine University of California Los Angeles Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Frebourg","sequence":"additional","affiliation":[{"name":"Department of Genetics Rouen University Hospital Rouen France"},{"name":"Inserm U1079 IRIB, Normandy University Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Campion","sequence":"additional","affiliation":[{"name":"CNR\u2010MAJ Rouen University Hospital Rouen France"},{"name":"Inserm U1079 IRIB, Normandy University Rouen France"},{"name":"Department of Research Rouvray Psychiatric Hospital Sotteville\u2010l\u00e8s\u2010Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o Ricardo Mendes","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Keizo Asami Laboratory (LIKA) Universidade Federal de Pernambuco (UFPE) Recife Brazil"},{"name":"Neuropsychiatry Department Universidade Federal de Pernambuco Recife Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Hannequin","sequence":"additional","affiliation":[{"name":"Department of Genetics Rouen University Hospital Rouen France"},{"name":"CNR\u2010MAJ Rouen University Hospital Rouen France"},{"name":"Inserm U1079 IRIB, Normandy University Rouen France"},{"name":"Department of Neurology Rouen University Hospital Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the 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