{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:33:10Z","timestamp":1740126790506,"version":"3.37.3"},"reference-count":10,"publisher":"Georg Thieme Verlag KG","issue":"05","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of SCA that usually affects adults. It has been recently reported in children in Europe, North America, and China. This study aims to describe clinical, radiological, and genetic data of a child presenting with SCA5, caused by a heterozygous likely pathogenic missense variant in SPTBN2 (NM_006946.3: c.1052G\u2009&gt;\u2009C, p.Arg351Pro). According to databases and a review of the literature, this is one of few cases of SCA5 from Latin America. Expanding the landscape of SCA5 is relevant to the differential diagnosis of ataxic cerebral palsy and the autosomal recessive cerebellar ataxias.<\/jats:p>","DOI":"10.1055\/a-1849-8128","type":"journal-article","created":{"date-parts":[[2022,5,11]],"date-time":"2022-05-11T23:06:36Z","timestamp":1652310396000},"page":"358-360","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Landscape of Spinocerebellar Ataxia Type 5"],"prefix":"10.1055","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8992-4418","authenticated-orcid":false,"given":"Maria Luiza","family":"Benevides","sequence":"additional","affiliation":[{"name":"Child Neurology Service, Neurology Department, Universidade Estadual de Campinas (UNICAMP), Campinas, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcondes","family":"Fran\u00e7a Jr","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neuromuscular Diseases, Universidade Estadual de Campinas (UNICAMP), Campinas, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2022,7,21]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/B978-0-444-51892-7.00028-0","article-title":"Spinocerebellar ataxia type 5","volume":"103","author":"K A Dick","year":"2012","journal-title":"Handb Clin Neurol"},{"issue":"04","key":"ref2","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1002\/acn3.51345","article-title":"Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5","volume":"8","author":"R Romaniello","year":"2021","journal-title":"Ann Clin Transl Neurol"},{"issue":"02","key":"ref3","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1177\/0883073819878917","article-title":"Heterozygous missense pathogenic variants within the second spectrin repeat of SPTBN2 lead to infantile-onset cerebellar 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nowadays","volume":"417","author":"S SO Scott","year":"2020","journal-title":"J Neurol Sci"},{"issue":"01","key":"ref10","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/s12311-021-01268-1","article-title":"Diagnostic yield of whole exome sequencing for adults with ataxia: a Brazilian perspective","volume":"21","author":"F F da 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