{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T18:17:30Z","timestamp":1761157050163,"version":"3.44.0"},"reference-count":14,"publisher":"BMJ","issue":"12","funder":[{"name":"Ministero dell'Istruzione, dell'Universit\u00e0 e della Ricerca","award":["Dipartimenti di Eccellenza 2018 \u2013 2022. Project","D15D18000410001"],"award-info":[{"award-number":["Dipartimenti di Eccellenza 2018 \u2013 2022. Project","D15D18000410001"]}]},{"name":"Department of Medical Sciences, MURST ex60%"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,11,24]]},"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:p>A 4-year-old girl was referred to the geneticist with a history of ataxia associated with intention tremor of the hands, strabismus and hypermetropy. Her symptoms presented about 2 years earlier with inability to walk unaided and lower limbs hypotonia. Cognitive functions were normal. Brain MRI showed a cerebellar and vermian hypoplasia with enlargement of both the cerebrospinal fluid spaces and the IV brain ventricle. Family history was unremarkable. A genetic screening using a 42-gene panel for hereditary ataxia\/spastic paraparesis identified a <jats:italic>de novo<\/jats:italic> c.1438C&gt;T - p.(Arg480Trp) missense change in the <jats:italic>SPTBN2<\/jats:italic> gene (NM_006946.2). This variant is reported to be associated with congenital ataxia, later evolving into ataxia and intellectual disability. This case further supports the existence of a specific <jats:italic>SPTBN2<\/jats:italic> p.(Arg480Trp)-associated phenotype, with a <jats:italic>de novo<\/jats:italic> recurrence of this variant in the heterozygous state.<\/jats:p>","DOI":"10.1136\/bcr-2020-238108","type":"journal-article","created":{"date-parts":[[2020,12,13]],"date-time":"2020-12-13T23:30:32Z","timestamp":1607902232000},"page":"e238108","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in <i>SPTBN2<\/i>"],"prefix":"10.1136","volume":"13","author":[{"given":"Andrea","family":"Zonta","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Citt\u00e0 della Salute e della Scienza University Hospital, Torino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Brussino","sequence":"additional","affiliation":[{"name":"Department Medical Sciences, University of Turin, Torino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"Dentelli","sequence":"additional","affiliation":[{"name":"Department Medical Sciences, University of Turin, Torino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8318-7231","authenticated-orcid":false,"given":"Alfredo","family":"Brusco","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Citt\u00e0 della Salute e della Scienza University Hospital, Torino, Italy"},{"name":"Department Medical Sciences, University of Turin, Torino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,12,13]]},"reference":[{"key":"2025082708193010000_13.12.e238108.1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-280"},{"key":"2025082708193010000_13.12.e238108.2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.6.1355"},{"key":"2025082708193010000_13.12.e238108.3","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000103293.63340.C1"},{"key":"2025082708193010000_13.12.e238108.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng1728"},{"key":"2025082708193010000_13.12.e238108.5","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-012-0408-0"},{"key":"2025082708193010000_13.12.e238108.6","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/jhg.2014.74","article-title":"A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study","volume":"59","author":"Wang","year":"2014","journal-title":"J Hum Genet"},{"key":"2025082708193010000_13.12.e238108.7","doi-asserted-by":"publisher","DOI":"10.1002\/bies.20443"},{"key":"2025082708193010000_13.12.e238108.8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003074"},{"key":"2025082708193010000_13.12.e238108.9","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.150"},{"key":"2025082708193010000_13.12.e238108.10","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1038\/s41431-018-0158-7","article-title":"Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype","volume":"26","author":"Nuovo","year":"2018","journal-title":"Eur J Hum Genet"},{"key":"2025082708193010000_13.12.e238108.11","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/cge.13562","article-title":"Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia","volume":"96","author":"Nicita","year":"2019","journal-title":"Clin Genet"},{"key":"2025082708193010000_13.12.e238108.12","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812454331"},{"key":"2025082708193010000_13.12.e238108.13","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv117"},{"key":"2025082708193010000_13.12.e238108.14","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-238108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:19:39Z","timestamp":1756307979000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-238108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":14,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2020,12,13]]},"published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1136\/bcr-2020-238108"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-238108","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2020,12]]}}}