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Fox Foundation for Parkinson's Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000864","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000833","name":"Rosetrees Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000833","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000346","name":"Ataxia UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000346","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013790","name":"Brain Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013790","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000627","name":"Guarantors of Brain","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000627","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Bi\u2010allelic variants in peroxiredoxin 3 (<jats:italic>PRDX3<\/jats:italic>) have only recently been associated with autosomal recessive spinocerebellar ataxia characterized by early onset slowly progressive cerebellar ataxia, variably associated with hyperkinetic and hypokinetic features, accompanied by cerebellar atrophy and occasional olivary and brainstem involvement. Herein, we describe a further simplex case carrying a reported <jats:italic>PRDX3<\/jats:italic> variant as well as two additional cases with novel variants. We report the first Brazilian patient with SCAR32, replicating the pathogenic status of a known variant. All presented cases from the Brazilian and Indian populations expand the phenotypic spectrum of the disease by displaying prominent neuroradiological findings. SCAR32, although rare, should be included in the differential diagnosis of sporadic or recessive childhood and adolescent\u2010onset pure and complex cerebellar ataxia.<\/jats:p>","DOI":"10.1002\/acn3.51874","type":"journal-article","created":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T04:49:35Z","timestamp":1691556575000},"page":"1910-1916","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Pure cerebellar ataxia due to bi\u2010allelic PRDX3 variants including recurring p.Asp202Asn"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4900-9877","authenticated-orcid":false,"given":"Stephanie","family":"Efthymiou","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Disorders UCL Queen Square Institute of Neurology  London WC1N 3BG UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1479-2953","authenticated-orcid":false,"given":"Luiz E.","family":"Novis","sequence":"additional","affiliation":[{"name":"Neurological Diseases Group, Postgraduate Program of Internal Medicine Hospital de Cl\u00ednicas, Federal University of Paran\u00e1  Curitiba Paran\u00e1 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios","family":"Koutsis","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology Eginition Hospital, National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chrysoula","family":"Koniari","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology Eginition Hospital, National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders UCL Queen Square Institute of Neurology  London WC1N 3BG UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Turchetti","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders UCL Queen Square Institute of Neurology  London WC1N 3BG UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios","family":"Velonakis","sequence":"additional","affiliation":[{"name":"2nd Department of Radiology Medical School, Attikon Hospital, National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9080-7833","authenticated-orcid":false,"given":"Luiz F.","family":"Vasconcellos","sequence":"additional","affiliation":[{"name":"Institute of Neurology, Federal University of Rio de Janeiro  Rio de Janeiro Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7191-0592","authenticated-orcid":false,"given":"Salmo","family":"Raskin","sequence":"additional","affiliation":[{"name":"Genetika Laboratoty  Curitiba Paran\u00e1 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varunvenkat M.","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Indira Gandhi Institute of Child Health  Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alistair T.","family":"Pagnamenta","sequence":"additional","affiliation":[{"name":"NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics University of Oxford  Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaramanchanahalli B.","family":"Arun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Indira Gandhi Institute of Child Health  Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uddhava V.","family":"Kinhal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Indira Gandhi Institute of Child Health  Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vykuntaraju K.","family":"Gowda","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Indira Gandhi Institute of Child Health  Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2305-1073","authenticated-orcid":false,"given":"Helio A. G.","family":"Teive","sequence":"additional","affiliation":[{"name":"Neurological Diseases Group, Postgraduate Program of Internal Medicine Hospital de Cl\u00ednicas, Federal University of Paran\u00e1  Curitiba Paran\u00e1 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disorders UCL Queen Square Institute of Neurology  London WC1N 3BG UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab071"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1089\/ars.2010.3766"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2007.02.022"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms231911847"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac146"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac240"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-022-00701-9"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz248"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A1662"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2018.02.022"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.51874","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T20:06:09Z","timestamp":1697486769000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.51874"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,8]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1002\/acn3.51874"],"URL":"https:\/\/doi.org\/10.1002\/acn3.51874","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,8]]},"assertion":[{"value":"2023-05-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}