{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T15:47:53Z","timestamp":1786549673519,"version":"build-2736575974"},"reference-count":26,"publisher":"BMJ","issue":"6","funder":[{"DOI":"10.13039\/501100000304","name":"Parkinson\u2019s UK","doi-asserted-by":"publisher","award":["G-2401"],"award-info":[{"award-number":["G-2401"]}],"id":[{"id":"10.13039\/501100000304","id-type":"DOI","asserted-by":"publisher"}]},{"name":"David Pearlman Charitable Foundation","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]},{"DOI":"10.13039\/501100012317","name":"UCLH Biomedical Research Centre","doi-asserted-by":"publisher","award":["BRC1287\/TN\/FM\/101410"],"award-info":[{"award-number":["BRC1287\/TN\/FM\/101410"]}],"id":[{"id":"10.13039\/501100012317","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Edmond J. Safra Movement Disorders Research Career Development Award","award":["MJFF-023893"],"award-info":[{"award-number":["MJFF-023893"]}]},{"DOI":"10.13039\/100006309","name":"American Parkinson Disease Association","doi-asserted-by":"publisher","award":["1282403"],"award-info":[{"award-number":["1282403"]}],"id":[{"id":"10.13039\/100006309","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2025,3,2]]},"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:p>\n                    Brain calcification is often detected incidentally, but basal ganglia calcification has a wide differential diagnosis, including genetic and acquired causes. Primary familial brain calcification (PFBC) (formerly \u2018Fahr\u2019s disease\u2019) refers to neurological disorders characterised by bilateral, symmetrical deposition of calcium-hydroxyapatite crystals in the basal ganglia and other encephalic regions, with a presumed genetic basis. Its clinical picture encompasses motor, cognitive and psychiatric manifestations in various combinations. Seven genes have been linked to PFBC since 2012, with either autosomal dominant (\n                    <jats:italic>SLC20A2<\/jats:italic>\n                    ,\n                    <jats:italic>PDGFRB<\/jats:italic>\n                    ,\n                    <jats:italic>PDGFB<\/jats:italic>\n                    and\n                    <jats:italic>XPR1<\/jats:italic>\n                    ) or recessive (\n                    <jats:italic>MYORG<\/jats:italic>\n                    ,\n                    <jats:italic>JAM2<\/jats:italic>\n                    and\n                    <jats:italic>NAA60<\/jats:italic>\n                    ) mode of inheritance. Mendelian gene discovery has provided critical insights into the pathogenesis of PFBC. Dyshomeostasis of inorganic phosphate, impaired endothelial functions and disrupted blood\u2013brain barrier integrity has been identified as converging pathomechanisms, which could highlight the targets of potential disease-modifying treatments. We provide a state-of-the-art overview on phenotypic features, diagnosis, aetiopathogenesis and management of PFBC.\n                  <\/jats:p>","DOI":"10.1136\/pn-2024-004258","type":"journal-article","created":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T17:17:15Z","timestamp":1743527835000},"page":"520-526","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":15,"title":["Basal ganglia calcification: \u2018Fahr\u2019s disease\u2019"],"prefix":"10.1136","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4706-6245","authenticated-orcid":false,"given":"Francesca","family":"Magrinelli","sequence":"first","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Jesuthasan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Addenbrooke\u2019s Hospital, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kailash P","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8952-2160","authenticated-orcid":false,"given":"Amit","family":"Batla","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK"},{"name":"Department of Neurology, Royal Free London NHS Foundation Trust Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,4,1]]},"reference":[{"key":"2025111304551246000_25.6.520.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchemneu.2016.07.008"},{"key":"2025111304551246000_25.6.520.2","doi-asserted-by":"crossref","first-page":"3270","DOI":"10.1007\/s00415-023-11650-0","article-title":"The clinical and genetic spectrum of primary familial brain calcification","volume":"270","author":"Carecchio","year":"2023","journal-title":"J Neurol"},{"key":"2025111304551246000_25.6.520.3","first-page":"129","volume-title":"Idiopathische Verkalkung Der Hirngef\u00e4\u00dfe. in Zentralblatt F\u00fcr Allgemeine Pathologie Und Pathologische Anatomie","volume":"50","author":"Fahr","year":"1930"},{"key":"2025111304551246000_25.6.520.4","unstructured":"Delacour A . 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Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. JAMA 2015;460\u20137. doi:10.1001\/jamaneurol.2014.3889","DOI":"10.1001\/jamaneurol.2014.3889"},{"key":"2025111304551246000_25.6.520.18","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1111\/dmcn.12359","article-title":"Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes","volume":"56","author":"Livingston","year":"2014","journal-title":"Develop Med Child Neuro"},{"key":"2025111304551246000_25.6.520.19","doi-asserted-by":"publisher","DOI":"10.1007\/s00330-012-2494-2"},{"key":"2025111304551246000_25.6.520.20","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1111\/j.1469-8749.2012.04437.x","article-title":"Recognizable phenotypes associated with intracranial calcification","volume":"55","author":"Livingston","year":"2013","journal-title":"Develop Med Child Neuro"},{"key":"2025111304551246000_25.6.520.21","doi-asserted-by":"crossref","first-page":"3278","DOI":"10.1016\/j.neuron.2024.07.013","article-title":"Antisense oligonucleotides enhance SLC20A2 expression and suppress brain calcification in a humanized mouse model","volume":"112","author":"Zhao","year":"2024","journal-title":"Neuron"},{"key":"2025111304551246000_25.6.520.22","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-024-03039-7","article-title":"The effects of etidronate on brain calcifications in Fahr\u2019s disease or syndrome: rationale and design of the randomised, placebo-controlled, double-blind CALCIFADE trial","volume":"19","author":"Snijders","year":"2024","journal-title":"Orphanet J Rare Dis"},{"key":"2025111304551246000_25.6.520.23","doi-asserted-by":"crossref","DOI":"10.3390\/ijms241310886","article-title":"The Genetics of Primary Familial Brain Calcification: A Literature Review","volume":"24","author":"Chen","year":"2023","journal-title":"Int J Mol Sci"},{"key":"2025111304551246000_25.6.520.24","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000399","article-title":"MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism","volume":"6","author":"Chelban","year":"2020","journal-title":"Neurol Genet"},{"key":"2025111304551246000_25.6.520.25","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28753"},{"key":"2025111304551246000_25.6.520.26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.parkreldis.2016.12.024","article-title":"Deconstructing Fahr\u2019s disease\/syndrome of brain calcification in the era of new genes","volume":"37","author":"Batla","year":"2017","journal-title":"Parkinsonism Relat Disord"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2024-004258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:55:49Z","timestamp":1763038549000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2024-004258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,1]]},"references-count":26,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2025,11,13]]},"published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1136\/pn-2024-004258"],"URL":"https:\/\/doi.org\/10.1136\/pn-2024-004258","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,1]]}}}