{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:51:45Z","timestamp":1787017905227,"version":"build-2736575974"},"reference-count":13,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurodegener Dis"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Idiopathic basal ganglia calcification (IBGC), also known as Fahr's disease, is a rare disorder characterized by widespread cerebral calcifications, an autosomal dominant pattern of inheritance and clinical and genetic heterogeneity. The recently identified IBGC gene, &lt;i&gt;SLC20A2,&lt;\/i&gt; encodes for type III sodium-dependent phosphate transporter 2 and its loss-of-function mutations may lead to the regional accumulation of inorganic phosphate in the brain, causing calcium phosphate deposition. &lt;b&gt;&lt;i&gt;Objective:&lt;\/i&gt;&lt;\/b&gt; To describe the clinical, neuroimaging and genetic findings in an Italian family with IBGC. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; The family members underwent clinical and radiological examination in order to diagnose IBGC according to standard criteria and screening for &lt;i&gt;SLC20A2&lt;\/i&gt; gene mutations. The affected subjects also underwent neuropsychological longitudinal assessments and functional neuroimaging investigations. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; The 2 affected family members harbored a novel missense mutation, G1618A, in the &lt;i&gt;SLC20A2&lt;\/i&gt; gene, leading to gly540-to-arg (G540R) substitution in a highly conserved residue. This is the first &lt;i&gt;SLC20A2 &lt;\/i&gt;gene mutation associated with familial IBGC reported in the Italian population and is damaging according to all prediction programs. In the index case we observed a fair correlation between cortical areas with no calcifications but with significant hypometabolism at [18F]FDG-PET (inferior frontal premotor cortex) and the neuropsychological picture dominated by dynamic aphasia and buccofacial apraxia. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; These findings expand the catalog of &lt;i&gt;SLC20A2&lt;\/i&gt; mutations identified to date and add dynamic aphasia to the spectrum of neuropsychological deficits reported in IBGC, supporting the use of functional neuroimaging studies for better investigation of genotype-phenotype correlations.<\/jats:p>","DOI":"10.1159\/000365216","type":"journal-article","created":{"date-parts":[[2014,9,25]],"date-time":"2014-09-25T02:34:46Z","timestamp":1411612486000},"page":"133-138","source":"Crossref","is-referenced-by-count":16,"title":["Fahr's Disease Linked to a Novel &lt;b&gt;&lt;i&gt;SLC20A2 &lt;\/i&gt;&lt;\/b&gt;Gene Mutation Manifesting with Dynamic Aphasia"],"prefix":"10.1159","volume":"14","author":[{"given":"Laura","family":"Brighina","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Saracchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Ferri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Gagliardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Tarantino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Morzenti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Musarra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirko","family":"Patassini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia","family":"Annesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Ferrarese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2014,9,25]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.51.7169"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-012-0349-2"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1077"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2004.12.001"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt255"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuropsychologia.2010.02.010"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3147-12.2013"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1080\/13554790500263529"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.78"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318295d6e3"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-1781(01)00308-0"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.019547"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00059-7"}],"container-title":["Neurodegenerative Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/365216","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/365216","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T13:56:39Z","timestamp":1745416599000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000365216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":13,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2014,11,1]]},"published-print":{"date-parts":[[2014,11,13]]}},"URL":"https:\/\/doi.org\/10.1159\/000365216","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5126785","asserted-by":"subject"}]},"ISSN":["1660-2854","1660-2862"],"issn-type":[{"value":"1660-2854","type":"print"},{"value":"1660-2862","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}