{"entity": "journal", "iuid": "f5b552ce23d1439b98426e2fce38ef28", "timestamp": "2026-04-16T18:05:43.648Z", "links": {"self": {"href": "https://publications.scilifelab.se/journal/J.%20Neurol.%20Sci..json"}, "display": {"href": "https://publications.scilifelab.se/journal/J.%20Neurol.%20Sci."}}, "title": "J. Neurol. Sci.", "issn": "1878-5883", "issn-l": "0022-510X", "publications_count": 2, "publications": [{"entity": "publication", "iuid": "c918b967bd8947d49000d7cd28001c84", "links": {"self": {"href": "https://publications.scilifelab.se/publication/c918b967bd8947d49000d7cd28001c84.json"}, "display": {"href": "https://publications.scilifelab.se/publication/c918b967bd8947d49000d7cd28001c84"}}, "title": "Novel findings in a Swedish primary familial brain calcification cohort.", "authors": [{"family": "Sennf\u00e4lt", "given": "Stefan", "initials": "S"}, {"family": "Gustavsson", "given": "Peter", "initials": "P"}, {"family": "Malmgren", "given": "Helena", "initials": "H"}, {"family": "Gilland", "given": "Eric", "initials": "E"}, {"family": "Almqvist", "given": "H\u00e5kan", "initials": "H"}, {"family": "Oscarson", "given": "Mikael", "initials": "M"}, {"family": "Engvall", "given": "Martin", "initials": "M"}, {"family": "Bj\u00f6rkhem", "given": "Ingemar", "initials": "I"}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Lagerstedt-Robinson", "given": "Kristina", "initials": "K"}, {"family": "Svenningsson", "given": "Per", "initials": "P"}, {"family": "Paucar", "given": "Martin", "initials": "M"}], "type": "journal article", "published": "2024-05-15", "journal": {"title": "J. Neurol. Sci.", "issn": "1878-5883", "volume": "460", "pages": "123020", "issn-l": "0022-510X"}, "abstract": "Brain calcifications are frequent findings on imaging. In a small proportion of cases, these calcifications are associated with pathogenic gene variants, hence termed primary familial brain calcification (PFBC). The clinical penetrance is incomplete and phenotypic variability is substantial. This paper aims to characterize a Swedish PFBC cohort including 25 patients: 20 from seven families and five sporadic cases.\n\nLongitudinal clinical assessment and CT imaging were conducted, abnormalities were assessed using the total calcification score (TCS). Genetic analyses, including a panel of six known PFBC genes, were performed in all index and sporadic cases. Additionally, three patients carrying a novel pathogenic copy number variant in SLC20A2 had their cerebrospinal fluid phosphate (CSF-Pi) levels measured.\n\nAmong the 25 patients, the majority (76%) displayed varying symptoms during the initial assessment including motor (60%), psychiatric (40%), and/or cognitive abnormalities (24%). Clinical progression was observed in most patients (78.6%), but there was no significant difference in calcification between the first and second scans, with mean scores of 27.3 and 32.8, respectively. In three families and two sporadic cases, pathogenic genetic variants were identified, including a novel finding, in the SLC20A2 gene. In the three tested patients, the CSF-Pi levels were normal.\n\nThis report demonstrates the variable expressivity seen in PFBC and includes a novel pathogenic variant in the SLC20A2 gene. In four families and three sporadic cases, no pathogenic variants were found, suggesting that new PFBC genes remain to be discovered.", "doi": "10.1016/j.jns.2024.123020", "pmid": "38642488", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pii", "key": "S0022-510X(24)00155-2"}], "notes": [], "created": "2024-11-21T07:53:32.991Z", "modified": "2024-11-23T14:20:02.398Z"}, {"entity": "publication", "iuid": "a6ea90ff46cc427d9545ed02d53faca4", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a6ea90ff46cc427d9545ed02d53faca4.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a6ea90ff46cc427d9545ed02d53faca4"}}, "title": "Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.", "authors": [{"family": "Ali", "given": "Zafar", "initials": "Z"}, {"family": "Klar", "given": "Joakim", "initials": "J"}, {"family": "Jameel", "given": "Mohammad", "initials": "M"}, {"family": "Khan", "given": "Kamal", "initials": "K"}, {"family": "Fatima", "given": "Ambrin", "initials": "A"}, {"family": "Raininko", "given": "Raili", "initials": "R"}, {"family": "Baig", "given": "Shahid", "initials": "S"}, {"family": "Dahl", "given": "Niklas", "initials": "N"}], "type": "journal article", "published": "2016-12-15", "journal": {"volume": "371", "issn": "1878-5883", "issue": null, "pages": "105-111", "title": "J. Neurol. Sci.", "issn-l": "0022-510X"}, "abstract": "We describe eight subjects from two consanguineous families segregating with autosomal recessive childhood onset spastic ataxia, peripheral neuropathy and intellectual disability. The degree of intellectual disability varied from mild to severe and all four affected individuals in one family developed aggressive behavior and epilepsy. Using exome sequencing, we identified two novel truncating mutations (c.2656C>T (p.Gln886*)) and (c.4756_4760delAATCA (p.Asn1586Tyrfs*3)) in the SACS gene responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). MRI revealed typical cerebellar and pontine changes associated with ARSACS as well as multiple supratentorial changes in both families as likely contributing factors to the cognitive symptoms. Intellectual disability and behavioral abnormalities have been reported in some cases of ARSACS but are not a part of the characteristic triad of symptoms that includes cerebellar ataxia, spasticity and peripheral neuropathy. Our combined findings bring further knowledge to the phenotypic spectrum, neurodegenerative changes and genetic variability associated with the SACS gene of clinical and diagnostic importance.", "doi": "10.1016/j.jns.2016.10.032", "pmid": "27871429", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (Uppsala Genome Center)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "S0022-510X(16)30673-6"}], "notes": [], "created": "2017-05-03T12:59:53.196Z", "modified": "2024-01-16T13:48:48.846Z"}], "created": "2017-05-09T09:12:00.017Z", "modified": "2020-11-27T13:14:07.815Z"}