{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T14:13:39Z","timestamp":1756995219281,"version":"3.37.3"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,8,19]],"date-time":"2024-08-19T00:00:00Z","timestamp":1724025600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,8,19]],"date-time":"2024-08-19T00:00:00Z","timestamp":1724025600000},"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":["Mol Neurobiol"],"published-print":{"date-parts":[[2025,3]]},"DOI":"10.1007\/s12035-024-04434-8","type":"journal-article","created":{"date-parts":[[2024,8,19]],"date-time":"2024-08-19T06:36:20Z","timestamp":1724049380000},"page":"2756-2763","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Investigation of Spinocerebellar Ataxia (SCA) Disease in Iranian Patients and Accurate Trinucleotide Repeat Detection in the SCA3 by TP-PCR Method"],"prefix":"10.1007","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-8127-1913","authenticated-orcid":false,"given":"Shafagh","family":"Sharafi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5189-5623","authenticated-orcid":false,"given":"Zahra","family":"Rezvani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,8,19]]},"reference":[{"key":"4434_CR1","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1007\/s00415-018-9076-4","volume":"266","author":"R Sullivan","year":"2019","unstructured":"Sullivan R (2019) Wai Yan Yau, Emer O\u2019Connor, Henry Houlden (2019) Spinocerebellar ataxia: an update. J Neurol 266:533\u2013544. https:\/\/doi.org\/10.1007\/s00415-018-9076-4","journal-title":"J Neurol"},{"key":"4434_CR2","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1038\/s41572-019-0074-3","volume":"5","author":"T Klockgether","year":"2019","unstructured":"Klockgether T, Mariotti C, Paulson HL (2019) Spinocerebellar ataxia. Nature Reviews Disease Primers 5:24. https:\/\/doi.org\/10.1038\/s41572-019-0074-3","journal-title":"Nature Reviews Disease Primers"},{"issue":"4","key":"4434_CR3","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1111\/cns.12676","volume":"23","author":"W Chao","year":"2017","unstructured":"Chao W, Chen D-B, Feng L, Zhou X-X, Zhang J-W, You H-J, Liang X-L, Pei Z et al (2017) Oculomotor deficits in spinocerebellar ataxia type 3: potential biomarkers of preclinical detection and disease progression. CNS Neurosci Ther 23(4):321\u2013328. https:\/\/doi.org\/10.1111\/cns.12676","journal-title":"CNS Neurosci Ther"},{"key":"4434_CR4","doi-asserted-by":"publisher","unstructured":"Nigri A, Sarro L, Mongelli A, Pinardi C, Porcu L, Castaldo A, Ferraro S, Grisoli M, et al (2020) Progression of cerebellar atrophy in spinocerebellar ataxia type 2 gen carriers: a longitudinal MRI study in preclinical and early disease stages. Front Neurol. https:\/\/doi.org\/10.3389\/fneur.2020.616419","DOI":"10.3389\/fneur.2020.616419"},{"key":"4434_CR5","doi-asserted-by":"publisher","unstructured":"Diallo A, Jacobi H, Tezenas\u00a0du\u00a0Montcel S, Klockgether T (2020) Natural history of most common spinocerebellar ataxia: a systematic review and meta-analysis. J Neurol 268(8):27492756. https:\/\/doi.org\/10.1007\/s00415-020-09815-2","DOI":"10.1007\/s00415-020-09815-2"},{"issue":"7","key":"4434_CR6","doi-asserted-by":"publisher","first-page":"1543","DOI":"10.1002\/acn3.51370","volume":"8","author":"SM Brooker","year":"2021","unstructured":"Brooker SM, Edamakanti CR, Akasha SM, Kuo S-H, Opal P (2021) Spinocerebellar ataxia clinical trials: opportunities and challenges. Ann Clin Transl Neurol 8(7):1543\u20131556. https:\/\/doi.org\/10.1002\/acn3.51370","journal-title":"Ann Clin Transl Neurol"},{"issue":"3","key":"4434_CR7","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1016\/j.jmoldx.2017.12.006","volume":"20","author":"C Cagnoli","year":"2018","unstructured":"Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E et al (2018) Spinocerebellar ataxia tethering PCR: a rapid genetic test for the diagnosis of spinocerebellar ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis. J Mol Diagn. 20(3):289\u2013297. https:\/\/doi.org\/10.1016\/j.jmoldx.2017.12.006","journal-title":"J Mol Diagn."},{"key":"4434_CR8","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1007\/s40291-016-0235-","volume":"20","author":"ARV Melo","year":"2016","unstructured":"Melo ARV, Ramos A, Kazachkova N, Raposo M, Bettencourt BF, Rendeiro AR, Kay T et al (2016) Triplet repeat primed PCR (TP-PCR) in molecular diagnostic testing for spinocerebellar ataxia type 3 (SCA3). Mol Diagn Ther 20:617\u2013622. https:\/\/doi.org\/10.1007\/s40291-016-0235-","journal-title":"Mol Diagn Ther"},{"issue":"7","key":"4434_CR9","doi-asserted-by":"publisher","first-page":"e07519","DOI":"10.1016\/j.heliyon.2021.e07519","volume":"7","author":"S Aminah","year":"2021","unstructured":"Aminah S, Huda F, Gamayani U, Pusparini I, Mochyadin MFA, Sribudiani Y, Ibrahim NM, Achmad TH (2021) Clinical and genetic profile in index patients with spinocerebellar ataxia type 3 in Indonesia: case report. Heliyon 7(7):e07519. https:\/\/doi.org\/10.1016\/j.heliyon.2021.e07519","journal-title":"Heliyon"},{"key":"4434_CR10","doi-asserted-by":"publisher","first-page":"2411","DOI":"10.1093\/hmg\/4.12.2411","volume":"4","author":"F Quan","year":"1995","unstructured":"Quan F, Janas J, Popovich BW (1995) A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. Hum Mol Genet 4:2411\u20132413","journal-title":"Hum Mol Genet"},{"key":"4434_CR11","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1038\/ng0595-94","volume":"10","author":"A Servadio","year":"1995","unstructured":"Servadio A, Koshy B, Armstrong D, Antalffy B, Orr HT, Zoghbi HY (1995) Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet 10:94\u201398","journal-title":"Nat Genet"},{"key":"4434_CR12","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1002\/ana.410390412","volume":"39","author":"LG Goldfarb","year":"1996","unstructured":"Goldfarb LG, Vasconcelos O, Platonov FA, Lunkes A, Kipnis V, Kononova S, Chabrashvili T, Vladimirtsev VA et al (1996) Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol 39:500\u2013506","journal-title":"Ann Neurol"},{"key":"4434_CR13","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1038\/ng0793-221","volume":"4","author":"HT Orr","year":"1993","unstructured":"Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA et al (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221\u2013226","journal-title":"Nat Genet"},{"key":"4434_CR14","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1038\/sj.ejhg.5200788","volume":"10","author":"C Z\u00fchlke","year":"2002","unstructured":"Z\u00fchlke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, B\u00fcrk K (2002) Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles. Eur J Hum Genet 10:204\u2013209","journal-title":"Eur J Hum Genet"},{"key":"4434_CR15","doi-asserted-by":"publisher","first-page":"e1003648","DOI":"10.1371\/journal.pgen.1003648","volume":"9","author":"RP Menon","year":"2013","unstructured":"Menon RP, Nethisinghe S, Faggiano S, Vannocci T, Rezaei H, Pemble S, Sweeney MG, Wood NW et al (2013) The role of interruptions in polyQ in the pathology of SCA1. PLoS Genet 9:e1003648","journal-title":"PLoS Genet"},{"key":"4434_CR16","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1111\/cge.13380","volume":"94","author":"LE Almaguer-Mederos","year":"2018","unstructured":"Almaguer-Mederos LE, Mesa JML, Gonz\u00e1lez-Zald\u00edvar Y, Almaguer-Gotay D, Cuello-Almarales D, Aguilera-Rodr\u00edguez R, Falc\u00f3n NS, Gispert S et al (2018) Factors associated with ATXN2 CAG\/CAA repeat intergenerational instability in spinocerebellar ataxia type 2. Clin Genet 94:346\u2013350","journal-title":"Clin Genet"},{"key":"4434_CR17","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1007\/s100480050009","volume":"1","author":"O Riess","year":"1997","unstructured":"Riess O, Laccone FA, Gispert S, Schols L, Zuhlke C, Vieira-Saecker AM, Herlt S, Wessel K et al (1997) SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1:59\u201364","journal-title":"Neurogenetics"},{"key":"4434_CR18","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<383::AID-AJMG10>3.0.CO;2-N","volume":"79","author":"D Babovic-Vuksanovic","year":"1998","unstructured":"Babovic-Vuksanovic D, Snow K, Patterson MC, Michels VV (1998) Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. Am J Med Genet 79:383\u2013387","journal-title":"Am J Med Genet"},{"key":"4434_CR19","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/j.pneurobio.2011.11.006","volume":"97","author":"C Costa Mdo","year":"2012","unstructured":"Costa Mdo C, Paulson HL (2012) Toward understanding Machado Joseph disease. Prog Neurobiol 97:239\u2013257","journal-title":"Prog Neurobiol"},{"key":"4434_CR20","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1002\/ajmg.b.30088","volume":"133B","author":"QS Padiath","year":"2005","unstructured":"Padiath QS, Srivastava AK, Roy S, Jain S, Brahmachari SK (2005) Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1\/SCA3 locus. Am J Med Genet B Neuropsychiatr Genet 133B:124\u2013126","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"4434_CR21","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1038\/ng1194-221","volume":"8","author":"Y Kawaguchi","year":"1994","unstructured":"Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S et al (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8:221\u20138","journal-title":"Nat Genet"},{"key":"4434_CR22","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/S0022-510X(98)00270-6","volume":"161","author":"M Shizuka","year":"1998","unstructured":"Shizuka M, Watanabe M, Ikeda Y, Mizushima K, Okamoto K, Shoji M (1998) Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls. J Neurol Sci 161:85\u201387","journal-title":"J Neurol Sci"},{"key":"4434_CR23","doi-asserted-by":"publisher","first-page":"1973","DOI":"10.1093\/hmg\/6.11.1973","volume":"6","author":"C Jodice","year":"1997","unstructured":"Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M et al (1997) Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 6:1973\u20131978","journal-title":"Hum Mol Genet"},{"key":"4434_CR24","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1016\/S0022-510X(98)00009-4","volume":"156","author":"I Yabe","year":"1998","unstructured":"Yabe I, Sasaki H, Matsuura T, Takada A, Wakisaka A, Suzuki Y, Fukazawa T, Hamada T et al (1998) SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. J Neurol Sci 156:89\u201395","journal-title":"J Neurol Sci"},{"key":"4434_CR25","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/B978-012566652-7\/50011-3","volume-title":"Genetics of movement disorders","author":"AS Lebre","year":"2003","unstructured":"Lebre AS, Stevanin G, Brice A (2003) Spinocerebellar ataxia 7 (SCA7). In: Pulst SM (ed) Genetics of movement disorders. Academic Press, San Diego, CA, pp 85\u201394"},{"key":"4434_CR26","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1034\/j.1399-0004.1999.560309.x","volume":"56","author":"A Nardacchione","year":"1999","unstructured":"Nardacchione A, Orsi L, Brusco A, Franco A, Grosso E, Dragone E, Mortara P, Schiffer D et al (1999) Definition of the smallest pathological CAG expansion in SCA7. Clin Genet 56:232\u2013234","journal-title":"Clin Genet"},{"key":"4434_CR27","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1007\/s10038-005-0233-0","volume":"50","author":"U Mittal","year":"2005","unstructured":"Mittal U, Roy S, Jain S, Srivastava AK, Mukerji M (2005) Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family. J Hum Genet 50:155\u2013157","journal-title":"J Hum Genet"},{"key":"4434_CR28","first-page":"A466","volume":"65","author":"LP Ranum","year":"1999","unstructured":"Ranum LP, Moseley ML, Leppert MF, van den Engh G, La Spada AR, Koob MD, Day JW (1999) Massive CTG expansions and deletions may reduce penetrance of spinocerebellar ataxia type 8. Am J Hum Genet 65:A466","journal-title":"Am J Hum Genet"},{"key":"4434_CR29","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, Khajavi M, McCall AE et al (2000) Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26:191\u2013194","journal-title":"Nat Genet"},{"key":"4434_CR30","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, Sequeiros J, Silveira I (2006) Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. Neurology 66:1602\u20131604","journal-title":"Neurology"},{"key":"4434_CR31","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1086\/498654","volume":"78","author":"T Matsuura","year":"2006","unstructured":"Matsuura T, Fang P, Pearson CE, Jayakar P, Ashizawa T, Roa BB, Nelson DL (2006) Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet 78:125\u2013129","journal-title":"Am J Hum Genet"},{"key":"4434_CR32","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1001\/archneur.61.5.727","volume":"61","author":"A Brusco","year":"2004","unstructured":"Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C et al (2004) Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG\/CTG repeat expansion detection in 225 Italian families. Arch Neurol 61:727\u2013733","journal-title":"Arch Neurol"},{"key":"4434_CR33","doi-asserted-by":"publisher","first-page":"1269","DOI":"10.1002\/mds.22835","volume":"25","author":"A Brussino","year":"2010","unstructured":"Brussino A, Graziano C, Giobbe D, Ferrone M, Dragone E, Arduino C, Lodi R, Tonon C et al (2010) Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia. Mov Disord 25:1269\u201373","journal-title":"Mov Disord"},{"key":"4434_CR34","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1002\/mds.21275","volume":"22","author":"A Nanda","year":"2007","unstructured":"Nanda A, Jackson SA, Schwankhaus JD, Metzer WS (2007) Case of spinocerebellar ataxia type 17 (SCA 17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. Mov Disord 22:436","journal-title":"Mov Disord"},{"key":"4434_CR35","doi-asserted-by":"publisher","first-page":"1396","DOI":"10.1136\/jnnp.2009.180711","volume":"81","author":"D Nolte","year":"2010","unstructured":"Nolte D, Sobanski E, Wissen A, Regula JU, Lichy C, M\u00fcller U (2010) Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene. J Neurol Neurosurg Psychiatry 81:1396\u20131399","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"4434_CR36","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.1212\/01.WNL.0000094123.09098.A0","volume":"61","author":"F Maltecca","year":"2003","unstructured":"Maltecca F, Filla A, Castaldo I, Coppola G, Fragassi NA, Carella M, Bruni A, Cocozza S et al (2003) Intergenerational instability and marked anticipation in SCA-17. Neurology 61:1441\u20131443","journal-title":"Neurology"},{"key":"4434_CR37","doi-asserted-by":"publisher","first-page":"117082","DOI":"10.1016\/j.jns.2020.117082","volume":"417","author":"SS de Oliveira Scotta","year":"2020","unstructured":"de Oliveira Scotta SS, Pedrosob JL, Barsottinib OGP, Fran\u00e7a-Juniorc MC, Braga-Neto P (2020) Natural history and epidemiology of the spinocerebellar ataxias: insights from the first description to nowadays. J Neurol Sci 417:117082. https:\/\/doi.org\/10.1016\/j.jns.2020.117082","journal-title":"J Neurol Sci"}],"container-title":["Molecular Neurobiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12035-024-04434-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12035-024-04434-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12035-024-04434-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,3]],"date-time":"2025-02-03T06:06:29Z","timestamp":1738562789000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12035-024-04434-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,19]]},"references-count":37,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["4434"],"URL":"https:\/\/doi.org\/10.1007\/s12035-024-04434-8","relation":{},"ISSN":["0893-7648","1559-1182"],"issn-type":[{"type":"print","value":"0893-7648"},{"type":"electronic","value":"1559-1182"}],"subject":[],"published":{"date-parts":[[2024,8,19]]},"assertion":[{"value":"20 December 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 August 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 August 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This is a technique comparison study. The University of Kashan Research Ethics Committee has confirmed that no ethical approval is required because the authors have not shared information about the person in the manuscript.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}]}}