{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T20:12:28Z","timestamp":1787170348859,"version":"build-2736575974"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T00:00:00Z","timestamp":1764979200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T00:00:00Z","timestamp":1764979200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"\"Pioneer\" and \"Leading Goose\u201d R&D Program of Zhejiang","award":["2025C02082; 2023C03003"],"award-info":[{"award-number":["2025C02082; 2023C03003"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82401498"],"award-info":[{"award-number":["82401498"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Key Project of Medical and Health Science and Technology Plan of Zhejiang Province","award":["WKJ-ZJ-2536"],"award-info":[{"award-number":["WKJ-ZJ-2536"]}]},{"name":"Special Fund for the Incubation of Young Clinical Scientist, the Children's Hospital of Zhejiang University School of Medicine","award":["CHZJU2024YS001"],"award-info":[{"award-number":["CHZJU2024YS001"]}]},{"name":"Children's Hospital of Zhejiang University School of Medicine Pre-Research Fund","award":["CHZJU2023YY006"],"award-info":[{"award-number":["CHZJU2023YY006"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Spinocerebellar ataxia type 32 (SCAR32) is a rare autosomal neurodegenerative disorder caused by mutations in the peroxiredoxin 3 (\n                    <jats:italic>PRDX3<\/jats:italic>\n                    ) gene, which encodes a mitochondria-specific antioxidant enzyme critical for maintaining cellular redox homeostasis. Here, we reported a case of a homozygous nonsense mutation (c.619\u00a0C\u2009&gt;\u2009T; p.Arg207*) in\n                    <jats:italic>PRDX3<\/jats:italic>\n                    of a 12-year-old Chinese boy. This mutation was predicted to result in premature termination of protein translation. Consequently, the patient presented with slowly progressive gait ataxia and cerebellar vermis atrophy. Mild cognitive impairment was also observed, with deficits in perceptual reasoning and processing speed. Additionally, he showed increased thyroid autoantibodies and thyroid enlargement. This case broadens the phenotypic spectrum of\n                    <jats:italic>PRDX3<\/jats:italic>\n                    -related disease, highlights its genetic and clinical heterogeneity, and reinforces the importance of early genetic testing in paediatric ataxia.\n                  <\/jats:p>","DOI":"10.1007\/s10048-025-00869-w","type":"journal-article","created":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T07:03:55Z","timestamp":1765004635000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A homozygous PRDX3 pathogenic variant in a paediatric case of spinocerebellar ataxia type 32"],"prefix":"10.1007","volume":"26","author":[{"given":"Jiaxuan","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yonglin","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongfang","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yueping","family":"Che","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dingwen","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haifeng","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaoqin","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinpiao","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daqing","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,12,6]]},"reference":[{"key":"869_CR1","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1038\/gim.2013.28","volume":"15","author":"S Jayadev","year":"2013","unstructured":"Jayadev S, Bird TD (2013) Hereditary ataxias: overview. Genet Med 15:673\u2013683. https:\/\/doi.org\/10.1038\/gim.2013.28","journal-title":"Genet Med"},{"key":"869_CR2","doi-asserted-by":"publisher","first-page":"1467","DOI":"10.1093\/brain\/awab071","volume":"144","author":"AP Rebelo","year":"2021","unstructured":"Rebelo AP, Eidhof I, Cintra VP, Guillot-Noel L, Pereira CV, Timmann D, Trasch\u00fctz A, Sch\u00f6ls L, Coarelli G, Durr A (2021) Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia. Brain 144:1467\u20131481. https:\/\/doi.org\/10.1093\/brain\/awab071","journal-title":"Brain"},{"key":"869_CR3","doi-asserted-by":"publisher","first-page":"1879","DOI":"10.1002\/acn3.52094","volume":"11","author":"V Naef","year":"2024","unstructured":"Naef V, Lieto M, Satolli S, De Micco R, Troisi M, Pasquariello R, Doccini S, Privitera F, Filla A, Tessitore A, Santorelli FM (2024) SCAR32: functional characterization and expansion of the clinical-genetic spectrum. Ann Clin Transl Neurol 11:1879\u20131886. https:\/\/doi.org\/10.1002\/acn3.52094","journal-title":"Ann Clin Transl Neurol"},{"key":"869_CR4","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"869_CR5","doi-asserted-by":"publisher","first-page":"3897","DOI":"10.1093\/hmg\/ddac146","volume":"31","author":"D Mart\u00ednez-Rubio","year":"2022","unstructured":"Mart\u00ednez-Rubio D, Rodr\u00edguez-Prieto \u00c1, Sancho P, Navarro-Gonz\u00e1lez C, Gorr\u00eda-Redondo N, Miquel-Leal J, Marco-Mar\u00edn C, Jenkins A, Soriano-Navarro M, Hern\u00e1ndez A (2022) Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3. Hum Mol Genet 31:3897\u20133913. https:\/\/doi.org\/10.1093\/hmg\/ddac146","journal-title":"Hum Mol Genet"},{"key":"869_CR6","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1007\/s10048-022-00701-9","volume":"24","author":"MM Rafeeq","year":"2023","unstructured":"Rafeeq MM, Umair M, Bilal M, Habib AH, Waqas A, Sain ZM, Alam MZ, Ali RH (2023) A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia. Neurogenetics 24:55\u201360. https:\/\/doi.org\/10.1007\/s10048-022-00701-9","journal-title":"Neurogenetics"},{"key":"869_CR7","doi-asserted-by":"publisher","first-page":"e95","DOI":"10.1093\/brain\/awac240","volume":"145","author":"AP Rebelo","year":"2022","unstructured":"Rebelo AP, Bender B, Haack TB, Zuchner S, consortium P, Basak AN, Synofzik M (2022) Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes. Brain 145:e95\u2013e98. https:\/\/doi.org\/10.1093\/brain\/awac240","journal-title":"Brain"},{"key":"869_CR8","doi-asserted-by":"publisher","first-page":"1910","DOI":"10.1002\/acn3.51874","volume":"10","author":"S Efthymiou","year":"2023","unstructured":"Efthymiou S, Novis LE, Koutsis G, Koniari C, Maroofian R, Turchetti V, Velonakis G, Vasconcellos LF, Raskin S, Srinivasan VM (2023) Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p. Asp202Asn. Ann Clin Transl Neurol 10:1910\u20131916. https:\/\/doi.org\/10.1002\/acn3.51874","journal-title":"Ann Clin Transl Neurol"},{"key":"869_CR9","doi-asserted-by":"publisher","first-page":"fcad233","DOI":"10.1093\/braincomms\/fcad233","volume":"5","author":"J Cho","year":"2023","unstructured":"Cho J, Yoon JG, Lee S, Kim S, Kim SY, Kim MJ, Moon J, Chae JH (2023) Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases. 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Mol Cell 83:3931\u20133939e3935. https:\/\/doi.org\/10.1016\/j.molcel.2023.09.025","journal-title":"Mol Cell"},{"key":"869_CR12","doi-asserted-by":"publisher","first-page":"197","DOI":"10.5152\/ArchRheumatol.2025.11031","volume":"40","author":"X Zhao","year":"2025","unstructured":"Zhao X, Peng Y, Wang M, Tan Q (2025) Methylation of PRDX3 expression alleviate ferroptosis and oxidative stress in patients with osteoarthritis cartilage injury. Arch Rheumatol 40:197\u2013210. https:\/\/doi.org\/10.5152\/ArchRheumatol.2025.11031","journal-title":"Arch Rheumatol"}],"container-title":["Neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-025-00869-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-025-00869-w","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-025-00869-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T04:03:47Z","timestamp":1769400227000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-025-00869-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,6]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["869"],"URL":"https:\/\/doi.org\/10.1007\/s10048-025-00869-w","relation":{},"ISSN":["1364-6753"],"issn-type":[{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,6]]},"assertion":[{"value":"22 July 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 November 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 December 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"86"}}