{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T04:36:12Z","timestamp":1741754172298,"version":"3.38.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T00:00:00Z","timestamp":1736985600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T00:00:00Z","timestamp":1736985600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"DOI":"10.1007\/s12311-024-01784-w","type":"journal-article","created":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T07:13:44Z","timestamp":1737011624000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["ATXN10 Gene Expansions in Mexican Patients with Ataxia Without Epilepsy"],"prefix":"10.1007","volume":"24","author":[{"given":"Aurelio","family":"Jara-Prado","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eukeni","family":"Arias-Capistran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Guerrero-Camacho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriana","family":"Ochoa-Morales","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie Catherine","family":"Boll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"D\u00e1vila-Ort\u00edz de Montellano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Astrid","family":"Rasmussen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuo","family":"Ashizawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Fernandez-Ruiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Yescas-G\u00f3mez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3221-3636","authenticated-orcid":false,"given":"Miguel \u00c1ngel","family":"Ram\u00edrez-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,1,16]]},"reference":[{"key":"1784_CR1","doi-asserted-by":"publisher","unstructured":"Matsuura T, Achari M, Khajavi M, Bachinski LL, Zoghbi HY, Ashizawa T. Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. Ann Neurol. 1999;45:407\u201311. https:\/\/doi.org\/10.1002\/1531-8249(199903)45:3%3C;407::aid-ana21%3E;3.0.co;2-d.","DOI":"10.1002\/1531-8249(199903)45:3%3C;407::aid-ana21%3E;3.0.co;2-d"},{"key":"1784_CR2","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1086\/302247","volume":"64","author":"L Zu","year":"1999","unstructured":"Zu L, Figueroa KP, Grewal R, Pulst SM. Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet. 1999;64:594\u20139. https:\/\/doi.org\/10.1086\/302247.","journal-title":"Am J Hum Genet"},{"key":"1784_CR3","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1038\/79911","volume":"26","author":"T Matsuura","year":"2000","unstructured":"Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000;26:191\u20134. https:\/\/doi.org\/10.1038\/79911.","journal-title":"Nat Genet"},{"key":"1784_CR4","doi-asserted-by":"publisher","first-page":"e0177955","DOI":"10.1371\/journal.pone.0177955","volume":"12","author":"H Naito","year":"2017","unstructured":"Naito H, Takahashi T, Kamada M, Morino H, Yoshino H, Hattori N, et al. First report of a Japanese family with spinocerebellar ataxia type 10: the second report from Asia after a report from China. PLoS ONE. 2017;12:e0177955.","journal-title":"PLoS ONE"},{"key":"1784_CR5","doi-asserted-by":"publisher","first-page":"1567","DOI":"10.3390\/cells11091567","volume":"11","author":"N Zhang","year":"2022","unstructured":"Zhang N, Ashizawa T. Mechanistic and therapeutic insights into Ataxic disorders with Pentanucleotide expansions. Cells. 2022;11:1567. https:\/\/doi.org\/10.3390\/cells11091567.","journal-title":"Cells"},{"issue":"5\u20136","key":"1784_CR6","doi-asserted-by":"publisher","first-page":"938","DOI":"10.1007\/s12311-017-0869-2","volume":"16","author":"A Moro","year":"2017","unstructured":"Moro A, Munhoz RP, Moscovich M, Arruda WO, Raskin S, Silveira-Moriyama L, et al. Nonmotor symptoms in patients with Spinocerebellar Ataxia Type 10. Cerebellum. 2017;16(5\u20136):938\u201344. https:\/\/doi.org\/10.1007\/s12311-017-0869-2.","journal-title":"Cerebellum"},{"key":"1784_CR7","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1007\/s12017-017-8464-8","volume":"19","author":"GB Bampi","year":"2017","unstructured":"Bampi GB, Bisso-Machado R, H\u00fcnemeier T, Gheno TC, Furtado GV, Veliz-Otani, et al. Haplotype study in SCA10 families provides further evidence for a common ancestral origin of the mutation. Neuromolecular Med. 2017;19:501\u20139. https:\/\/doi.org\/10.1007\/s12017-017-8464-8.","journal-title":"Neuromolecular Med"},{"key":"1784_CR8","doi-asserted-by":"publisher","first-page":"1050","DOI":"10.1002\/mds.21470","volume":"22","author":"E Alonso","year":"2007","unstructured":"Alonso E, Mart\u00ednez-Ruano L, De Biase I, Mader C, Ochoa A, Yescas P, et al. Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population. Mov Disord. 2007;22:1050\u20133. https:\/\/doi.org\/10.1002\/mds.21470.","journal-title":"Mov Disord"},{"issue":"4","key":"1784_CR9","doi-asserted-by":"publisher","first-page":"100137","DOI":"10.1016\/j.xhgg.2022.100137","volume":"3","author":"CA Morato Torres","year":"2022","unstructured":"Morato Torres CA, Zafar F, Tsai YC, Vazquez JP, Gallagher MD, McLaughlin I, et al. ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10. HGG Adv. 2022;3(4):100137. https:\/\/doi.org\/10.1016\/j.xhgg.2022.100137.","journal-title":"HGG Adv"},{"key":"1784_CR10","doi-asserted-by":"publisher","first-page":"1602","DOI":"10.1212\/01.wnl.0000216266.30177.bb","volume":"66","author":"I Alonso","year":"2006","unstructured":"Alonso I, Jardim LB, Artigalas O, Saraiva-Pereira ML, Matsuura T, Ashizawa T, et al. Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. Neurology. 2006;66:1602\u20134. https:\/\/doi.org\/10.1212\/01.wnl.0000216266.30177.bb.","journal-title":"Neurology"},{"issue":"2","key":"1784_CR11","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1007\/s12311-019-01098-2","volume":"19","author":"M Cornejo-Olivas","year":"2020","unstructured":"Cornejo-Olivas M, Inca-Martinez M, Castilhos RM, Furtado GV, Mattos EP, Bampi GB, et al. Genetic Analysis of Hereditary Ataxias in Peru identifies SCA10 families with incomplete penetrance. Cerebellum. 2020;19(2):208\u201315. https:\/\/doi.org\/10.1007\/s12311-019-01098-2.","journal-title":"Cerebellum"},{"key":"1784_CR12","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1016\/S1525-1578(10)60496-5","volume":"6","author":"C Cagnoli","year":"2004","unstructured":"Cagnoli C, Michielotto C, Matsuura T, Ashizawa T, Margolis RL, Holmes SE, et al. Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. J Mol Diagn. 2004;6:96\u2013100. https:\/\/doi.org\/10.1016\/S1525-1578(10)60496-5.","journal-title":"J Mol Diagn"},{"key":"1784_CR13","doi-asserted-by":"publisher","first-page":"e0135906","DOI":"10.1371\/journal.pone.0135906","volume":"10","author":"KN McFarland","year":"2015","unstructured":"McFarland KN, Liu J, Landrian I, Godiska R, Shanker S, Yu F, et al. SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 reveals unique insight of repeat expansion structure. PLoS ONE. 2015;10:e0135906. https:\/\/doi.org\/10.1371\/journal.pone.0135906.","journal-title":"PLoS ONE"},{"key":"1784_CR14","doi-asserted-by":"publisher","first-page":"e0228789","DOI":"10.1371\/journal.pone.0228789","volume":"15","author":"V Hashem","year":"2020","unstructured":"Hashem V, Tiwari A, Bewick B, Teive HA, Moscovich M, Sch\u00fcele B, et al. Pulse-field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10. PLoS ONE. 2020;15:e0228789. https:\/\/doi.org\/10.1371\/journal.pone.0228789.","journal-title":"PLoS ONE"},{"key":"1784_CR15","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1002\/ana.1081","volume":"50","author":"A Rasmussen","year":"2001","unstructured":"Rasmussen A, Matsuura T, Ruano L, Yescas P, Ochoa A, Ashizawa T, et al. Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. Ann Neurol. 2001;50:234\u20139. https:\/\/doi.org\/10.1002\/ana.1081.","journal-title":"Ann Neurol"},{"key":"1784_CR16","doi-asserted-by":"publisher","first-page":"1691","DOI":"10.1007\/s00415-014-7394-8","volume":"261","author":"L Leonardi","year":"2014","unstructured":"Leonardi L, Marcotulli C, McFarland KN, Tessa A, DiFabio R, Santorelli FM, et al. Spinocerebellar ataxia type 10 in Peru: the missing link in the amerindian origin of the disease. J Neurol. 2014;261:1691\u20134. https:\/\/doi.org\/10.1007\/s00415-014-7394-8.","journal-title":"J Neurol"},{"key":"1784_CR17","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1007\/s12311-020-01109-7","volume":"19","author":"R Rodr\u00edguez-Labrada","year":"2020","unstructured":"Rodr\u00edguez-Labrada R, Martins AC, Maga\u00f1a JJ, Vazquez-Mojena Y, Medrano-Montero J, Fernandez-Ru\u00edz J, et al. Founder effects of Spinocerebellar Ataxias in the American continents and the Caribbean. Cerebellum. 2020;19:446\u201358. https:\/\/doi.org\/10.1007\/s12311-020-01109-7.","journal-title":"Cerebellum"},{"key":"1784_CR18","doi-asserted-by":"publisher","first-page":"e26","DOI":"10.1212\/NXG.0000000000000026","volume":"1","author":"K Wang","year":"2015","unstructured":"Wang K, McFarland KN, Liu J, Zeng D, Landrian I, Xia G, et al. Spinocerebellar ataxia type 10 in Chinese Han. Neurol Genet. 2015;1:e26. https:\/\/doi.org\/10.1212\/NXG.0000000000000026.","journal-title":"Neurol Genet"},{"key":"1784_CR19","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1007\/s12311-022-01405-4","volume":"22","author":"C Mao","year":"2023","unstructured":"Mao C, Li X, Su Y, Luo H, Fan L, Zheng H, et al. Spinocerebellar Ataxia type 10 with atypical clinical manifestation in Han Chinese. Cerebellum. 2023;22:355\u201362. https:\/\/doi.org\/10.1007\/s12311-022-01405-4.","journal-title":"Cerebellum"},{"issue":"2","key":"1784_CR20","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1111\/cge.12114","volume":"85","author":"JJ Maga\u00f1a","year":"2014","unstructured":"Maga\u00f1a JJ, Tapia-Guerrero YS, Vel\u00e1zquez-P\u00e9rez L, Cerecedo-Zapata CM, Maldonado-Rodr\u00edguez M, Jano-Ito JS, et al. Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect. Clin Genet. 2014;85(2):159\u201365. https:\/\/doi.org\/10.1111\/cge.12114.","journal-title":"Clin Genet"},{"issue":"1","key":"1784_CR21","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1007\/s10048-013-0387-4","volume":"15","author":"LE Garc\u00eda-Vel\u00e1zquez","year":"2014","unstructured":"Garc\u00eda-Vel\u00e1zquez LE, Canizales-Quinteros S, Romero-Hidalgo S, Ochoa-Morales A, Mart\u00ednez-Ruano L, M\u00e1rquez-Luna C, et al. Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families. Neurogenetics. 2014;15(1):13\u20137. https:\/\/doi.org\/10.1007\/s10048-013-0387-4.","journal-title":"Neurogenetics"},{"issue":"19","key":"1784_CR22","doi-asserted-by":"publisher","first-page":"10750","DOI":"10.3390\/ijms251910750","volume":"25","author":"CM Cerecedo-Zapata","year":"2024","unstructured":"Cerecedo-Zapata CM, Tapia-Guerrero YS, Ram\u00edrez-Gonz\u00e1lez JA, Meza-Dorantes A, Tercero-P\u00e9rez KN, Cort\u00e9s H, et al. Current overview of Spinocerebellar Ataxia Type 7 in Mexican Population: challenges in Specialized Care for a Rare Disease. Int J Mol Sci. 2024;25(19):10750. https:\/\/doi.org\/10.3390\/ijms251910750.","journal-title":"Int J Mol Sci"},{"key":"1784_CR23","doi-asserted-by":"publisher","first-page":"2875","DOI":"10.1002\/mds.23324","volume":"25","author":"HA Teive","year":"2010","unstructured":"Teive HA, Munhoz RP, Raskin S, Arruda WO, de Paola L, Werneck LC, et al. Spinocerebellar ataxia type 10: frequency of epilepsy in a large sample of Brazilian patients. Mov Disord. 2010;25:2875\u20138. https:\/\/doi.org\/10.1002\/mds.23324.","journal-title":"Mov Disord"},{"key":"1784_CR24","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1159\/000526260","volume":"22","author":"MA Ramirez-Garc\u00eda","year":"2022","unstructured":"Ramirez-Garc\u00eda MA, D\u00e1vila-Ort\u00edz de Montellano DJ, Mart\u00ednez-Ruano L, Ochoa-Morales A, Romero-Hidalgo S, Zenteno JC, et al. Clinical and molecular findings of Intermediate Allele Carriers in the HTT gene from the Mexican Mestizo Population. Neurodegener Dis. 2022;22:34\u201342. https:\/\/doi.org\/10.1159\/000526260.","journal-title":"Neurodegener Dis"},{"key":"1784_CR25","doi-asserted-by":"publisher","first-page":"94","DOI":"10.3389\/fgene.2014.00094","volume":"5","author":"S Singh","year":"2014","unstructured":"Singh S, Zhang A, Dlouhy S, Bai S. Detection of large expansions in myotonic dystrophy type 1 using triplet primed PCR. Front Genet. 2014;5:94. https:\/\/doi.org\/10.3389\/fgene.2014.00094.","journal-title":"Front Genet"},{"issue":"4","key":"1784_CR26","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1016\/S1525-1578(10)60523-5","volume":"6","author":"P Ciotti","year":"2004","unstructured":"Ciotti P, Di Maria E, Bellone E, Ajmar F, Mandich P. Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia. J Mol Diagn. 2004;6(4):285\u20139. https:\/\/doi.org\/10.1016\/S1525-1578(10)60523-5.","journal-title":"J Mol Diagn"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-024-01784-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12311-024-01784-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-024-01784-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T13:34:57Z","timestamp":1741700097000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12311-024-01784-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,16]]},"references-count":26,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,4]]}},"alternative-id":["1784"],"URL":"https:\/\/doi.org\/10.1007\/s12311-024-01784-w","relation":{},"ISSN":["1473-4230"],"issn-type":[{"type":"electronic","value":"1473-4230"}],"subject":[],"published":{"date-parts":[[2025,1,16]]},"assertion":[{"value":"31 December 2024","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 January 2025","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This research did not receive specific funding from any public, commercial, or not-for-profit funding agency.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Study Funding"}},{"value":"Tetsuo Ashizawa received grants from the NIH (U01 NS104326 and R01 NS115002), the National Ataxia Foundation, and the Myotonic Dystrophy Foundation. He discloses participation in Biogen trials NCT03952806 and Biohaven trials NCT03701399, and he received the endowment Harriet and Joe B. Foster Distinguished Chair in Neurosciences.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"33"}}