{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T06:31:54Z","timestamp":1778567514595,"version":"3.51.4"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2020,1,8]],"date-time":"2020-01-08T00:00:00Z","timestamp":1578441600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is a rare neurodegenerative disorder characterized by the accumulation of extensive parenchymal and vascular calcifications in the basal ganglia, with variable calcifications elsewhere in the brain. Typically, IBGC presents with neurologic and psychiatric symptoms in middle-aged adults. Recent genetic studies have identified alterations in 4 genes causing IBGC, including alterations in SLC20A2 on chromosome 8p11.2. Currently, there are no clinical descriptions of patients with IBGC occurring within the context of a complex genetic syndrome. Here, we present a case of pediatric 8p11 deletion with IBGC, hereditary spherocytosis, vitreoretinopathy, and focal cortical dysplasia. We review multiple cases of IBGC with pediatric onset due to SLC20A2 deletion in the literature, and raise the consideration of IBGC in the evaluation of pediatric patients with 8p11.2 deletion syndromes.<\/jats:p>","DOI":"10.1093\/jnen\/nlz133","type":"journal-article","created":{"date-parts":[[2020,1,8]],"date-time":"2020-01-08T14:31:14Z","timestamp":1578493874000},"page":"238-241","source":"Crossref","is-referenced-by-count":2,"title":["Pediatric Idiopathic Basal Ganglia Calcification and Spherocytosis With Chromosome 8p11 Deletion"],"prefix":"10.1093","volume":"79","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5340-148X","authenticated-orcid":false,"given":"Meaghan","family":"Morris","sequence":"first","affiliation":[{"name":"Department of Pathology, Johns Hopkins University School of Medicine From the , Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina","family":"Kwon","sequence":"additional","affiliation":[{"name":"Department of Pathology, Johns Hopkins University School of Medicine From the , Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liam","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pathology, Johns Hopkins University School of Medicine From the , Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,1,8]]},"reference":[{"key":"2024032523303473800_nlz133-B1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.parkreldis.2016.12.024","article-title":"Deconstructing Fahr's disease\/syndrome of brain calcification in the era of new genes","volume":"37","author":"Batla","year":"2017","journal-title":"Parkinsonism Relat Disord"},{"key":"2024032523303473800_nlz133-B2","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s10048-013-0378-5","article-title":"SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia","volume":"15","author":"Baker","year":"2014","journal-title":"Neurogenetics"},{"key":"2024032523303473800_nlz133-B3","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1111\/cge.13540","article-title":"Identification of SLC20A2 deletions in patients with primary familial brain calcification","volume":"96","author":"Guo","year":"2019","journal-title":"Clin Genet"},{"key":"2024032523303473800_nlz133-B4","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1111\/j.1528-1167.2010.02777.x","article-title":"The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission","volume":"52","author":"Blumcke","year":"2011","journal-title":"Epilepsia"},{"key":"2024032523303473800_nlz133-B5","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.gene.2012.06.086","article-title":"A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features","volume":"506","author":"Miya","year":"2012","journal-title":"Gene"},{"key":"2024032523303473800_nlz133-B6","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/ajmg.1320580306","article-title":"Hereditary spherocytic anemia with deletion of the short arm of chromosome 8","volume":"58","author":"Okamoto","year":"1995","journal-title":"Am J Med Genet"},{"key":"2024032523303473800_nlz133-B7","doi-asserted-by":"crossref","first-page":"e00503","DOI":"10.1002\/mgg3.503","article-title":"Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease","volume":"7","author":"Liu","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"2024032523303473800_nlz133-B8","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1136\/jnnp.45.2.143","article-title":"Direct demonstration of transsynaptic degeneration in the human visual system: A comparison of retrograde and anterograde changes","volume":"45","author":"Beatty","year":"1982","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2024032523303473800_nlz133-B9","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1002\/ajmg.b.31102","article-title":"Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification","volume":"153B","author":"Dai","year":"2010","journal-title":"Am J Med Genet B Genet"},{"key":"2024032523303473800_nlz133-B10","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1212\/01.wnl.0000230141.40784.09","article-title":"Autosomal dominant dystonia-plus with cerebral calcifications","volume":"67","author":"Wszolek","year":"2006","journal-title":"Neurology"}],"container-title":["Journal of Neuropathology &amp; 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