{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T13:19:13Z","timestamp":1789823953203,"version":"4.0.1"},"reference-count":4,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,2,20]],"date-time":"2018-02-20T00:00:00Z","timestamp":1519084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2018,2,20]],"date-time":"2018-02-20T00:00:00Z","timestamp":1519084800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Academic Medical Center (AMC)"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:italic>SEPSECS<\/jats:italic> gene are associated with pontocerebellar hypoplasia type 2D. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare autosomal recessive neurodegenerative disorders, mainly affecting pons and cerebellum. Patients have severe motor and cognitive impairments and often die during infancy. Here, we report a 23\u2010year\u2010old woman with slowly progressive cerebellar ataxia and cognitive impairment, in whom a homozygous missense mutation in the <jats:italic>SEPSECS<\/jats:italic> gene (c.1321G&gt;A; p.Gly441Arg) was identified with whole exome sequencing. Our findings underline that defects in selenoprotein synthesis can also result in milder cerebellar atrophy presenting at a later age.<\/jats:p>","DOI":"10.1007\/s10545-018-0151-x","type":"journal-article","created":{"date-parts":[[2018,2,20]],"date-time":"2018-02-20T17:42:12Z","timestamp":1519148532000},"page":"897-898","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["A <i>SEPSECS<\/i> mutation in a 23\u2010year\u2010old woman with microcephaly and progressive cerebellar ataxia"],"prefix":"10.1002","volume":"41","author":[{"given":"Tessa","family":"van Dijk","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands"},{"name":"Department of Clinical Genetics, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan\u2010Dirk","family":"Vermeij","sequence":"additional","affiliation":[{"name":"Department of Neurology, Academic Medical Center University of Amsterdam Amsterdam 1105 AZ The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana","family":"van Koningsbruggen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillis","family":"Lakeman","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Baas","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8118-5419","authenticated-orcid":false,"given":"Bwee Tien","family":"Poll\u2010The","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Academic Medical Center University of Amsterdam Amsterdam 1105 AZ The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,2,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.09.007"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001787"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24883"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2015.12.016"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10545-018-0151-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10545-018-0151-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10545-018-0151-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-018-0151-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T05:41:50Z","timestamp":1694670110000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-018-0151-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,20]]},"references-count":4,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,9]]}},"alternative-id":["10.1007\/s10545-018-0151-x"],"URL":"https:\/\/doi.org\/10.1007\/s10545-018-0151-x","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,20]]}}}