{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T00:18:14Z","timestamp":1778199494057,"version":"3.51.4"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1186\/s12883-018-1012-9","type":"journal-article","created":{"date-parts":[[2018,1,19]],"date-time":"2018-01-19T14:26:57Z","timestamp":1516372017000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["SCL20A2 mutation presenting with acute ischemic stroke: a case report"],"prefix":"10.1186","volume":"18","author":[{"given":"Xiaoyu","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaoting","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhangning","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meijia","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,1,19]]},"reference":[{"key":"1012_CR1","first-page":"458","volume":"2","author":"A Delacour","year":"1850","unstructured":"Delacour A. Ossification des capillaires du cerveau. Ann Med Psychol (Paris). 1850;2:458\u201361.","journal-title":"Ann Med Psychol (Paris)"},{"key":"1012_CR2","first-page":"129","volume":"50","author":"T Fahr","year":"1930","unstructured":"Fahr T. Idiopathische Verkalkung der Hirngef\u00e4\u00dfe. Zentralbl Allg Pathol. 1930;50:129\u201330.","journal-title":"Zentralbl Allg Pathol"},{"key":"1012_CR3","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1038\/ng.1077","volume":"44","author":"C Wang","year":"2012","unstructured":"Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012;44:254\u20136.","journal-title":"Nat Genet"},{"key":"1012_CR4","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1038\/ng.2723","volume":"45","author":"A Keller","year":"2013","unstructured":"Keller A, Westenberger A, Sobrido MJ, Garcia-Murias M, Domingo A, Sears RL, et al. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet. 2013;45:1077\u201382.","journal-title":"Nat Genet"},{"key":"1012_CR5","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1212\/WNL.0b013e31827ccf34","volume":"80","author":"G Nicolas","year":"2013","unstructured":"Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet-Lecrux A, Legallic S, et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2013;80:181\u20137.","journal-title":"Neurology"},{"key":"1012_CR6","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1038\/ng.3289","volume":"47","author":"A Legati","year":"2015","unstructured":"Legati A, Giovannini D, Nicolas G, Lopez-Sanchez U, Quintans B, Oliveira JR, et al. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet. 2015;47:579\u201381.","journal-title":"Nat Genet"},{"key":"1012_CR7","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1111\/bpa.12158","volume":"24","author":"C Betsholtz","year":"2014","unstructured":"Betsholtz C, Keller A. PDGF, pericytes and the pathogenesis of idiopathic basal ganglia calcification (IBGC). Brain Pathol. 2014;24:387\u201395.","journal-title":"Brain Pathol"},{"key":"1012_CR8","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1007\/s10072-015-2110-8","volume":"36","author":"I Taglia","year":"2015","unstructured":"Taglia I, Bonifati V, Mignarri A, Dotti MT, Federico A. Primary familial brain calcification: update on molecular genetics. Neurol Sci. 2015;36:787\u201394.","journal-title":"Neurol Sci"},{"key":"1012_CR9","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1111\/neup.12280","volume":"36","author":"T Kimura","year":"2016","unstructured":"Kimura T, Miura T, Aoki K, Saito S, Hondo H, Konno T, et al. Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation. Neuropathology. 2016;36:365\u201371.","journal-title":"Neuropathology"},{"key":"1012_CR10","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.parkreldis.2016.12.024","volume":"37","author":"A Batla","year":"2017","unstructured":"Batla A, Tai XY, Schottlaender L, Erro R, Balint B, Bhatia KP. Deconstructing Fahr's disease\/syndrome of brain calcification in the era of new genes. Parkinsonism Relat Disord. 2017;37:1\u201310.","journal-title":"Parkinsonism Relat Disord"},{"key":"1012_CR11","doi-asserted-by":"publisher","first-page":"705","DOI":"10.1212\/WNL.0000000000000143","volume":"82","author":"M Yamada","year":"2014","unstructured":"Yamada M, Tanaka M, Takagi M, Kobayashi S, Taguchi Y, Takashima S, et al. Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. Neurology. 2014;82:705\u201312.","journal-title":"Neurology"},{"key":"1012_CR12","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1001\/jamaneurol.2014.3889","volume":"72","author":"V Tadic","year":"2015","unstructured":"Tadic V, Westenberger A, Domingo A, Alvarez-Fischer D, Klein C, Kasten M. Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization. JAMA Neurol. 2015;72:460\u20137.","journal-title":"JAMA Neurol"},{"key":"1012_CR13","doi-asserted-by":"publisher","first-page":"27","DOI":"10.4103\/2156-7514.96542","volume":"2","author":"H Al-Jehani","year":"2012","unstructured":"Al-Jehani H, Ajlan A, Sinclair D. Fahr's disease presenting with Aneurysmal subarachnoid hemorrhage. J Clin Imaging Sci. 2012;2:27.","journal-title":"J Clin Imaging Sci"},{"key":"1012_CR14","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1186\/s12883-016-0557-8","volume":"16","author":"CS Yang","year":"2016","unstructured":"Yang CS, Lo CP, Wu MC. Ischemic stroke in a young patient with Fahr's disease: a case report. BMC Neurol. 2016;16:33.","journal-title":"BMC Neurol"},{"key":"1012_CR15","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1007\/s00401-005-1007-7","volume":"109","author":"J Miklossy","year":"2005","unstructured":"Miklossy J, Mackenzie IR, Dorovini-Zis K, Calne DB, Wszolek ZK, Klegeris A, et al. Severe vascular disturbance in a case of familial brain calcinosis. Acta Neuropathol. 2005;109:643\u201353.","journal-title":"Acta Neuropathol"},{"key":"1012_CR16","doi-asserted-by":"publisher","first-page":"e134","DOI":"10.1212\/NXG.0000000000000134","volume":"3","author":"G Nicolas","year":"2017","unstructured":"Nicolas G, Marguet F, Laquerriere A, Mendes de Oliveira JR, Hannequin D. Microangiopathy in primary familial brain calcification: evidence from skin biopsies. Neurol Genet. 2017;3:e134.","journal-title":"Neurol Genet"},{"key":"1012_CR17","doi-asserted-by":"publisher","first-page":"1163","DOI":"10.1136\/jnnp.2003.019547","volume":"75","author":"T Benke","year":"2004","unstructured":"Benke T, Karner E, Seppi K, Delazer M, Marksteiner J, Donnemiller E. Subacute dementia and imaging correlates in a case of Fahr's disease. J Neurol Neurosurg Psychiatry. 2004;75:1163\u20135.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1012_CR18","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1097\/RLU.0b013e3181a7d195","volume":"34","author":"A Paschali","year":"2009","unstructured":"Paschali A, Lakiotis V, Messinis L, Markaki E, Constantoyannis C, Ellul J, et al. Dopamine transporter SPECT\/CT and perfusion brain SPECT imaging in idiopathic basal ganglia calcinosis. Clin Nucl Med. 2009;34:421\u20133.","journal-title":"Clin Nucl Med"},{"key":"1012_CR19","doi-asserted-by":"publisher","first-page":"1927","DOI":"10.1007\/s00415-013-6973-4","volume":"260","author":"R Messina","year":"2013","unstructured":"Messina R, Rocca MA, Colombo B, Falini A, Comi G, Filippi M. Brain structural and functional abnormalities in Fahr's disease: a report of two cases. J Neurol. 2013;260:1927\u201330.","journal-title":"J Neurol"}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-018-1012-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,1,19]],"date-time":"2019-01-19T00:16:43Z","timestamp":1547857003000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-018-1012-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,19]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["1012"],"URL":"https:\/\/doi.org\/10.1186\/s12883-018-1012-9","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,19]]},"assertion":[{"value":"7 September 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 January 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 January 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Institutional review board of Qianfoshan hospital affiliated to Shandong University approved the study.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Signed informed consent was obtained from the patient for publication of this case report and accompanying neuroimages.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"11"}}