{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T07:57:24Z","timestamp":1771660644666,"version":"3.50.1"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2025,3,14]],"date-time":"2025-03-14T00:00:00Z","timestamp":1741910400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,3,14]],"date-time":"2025-03-14T00:00:00Z","timestamp":1741910400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"National Hospital"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Polyglutamine ataxias are autosomal dominantly inherited neurodegenerative disorders in which the molecular aetiology is an expanded CAG glutamine-encoding repeat in the causative genes. At present, there is no effective treatment, but there are several ongoing trials addressing polyglutamine disorders increasing the need of knowledge about prevalence and relative frequencies of the different subtypes. To identify all individuals with genetically confirmed polyglutamine ataxia in Denmark, determine frequency of subtypes and estimate the incidences. Retrospective data on all clinical tests performed on polyglutamine ataxias in Denmark during the last 15\u00a0years. 215 individuals with alleles in the full penetrant pathogenic range of polyglutamine ataxia genes were identified. The most frequent polyglutamine ataxia in Denmark was SCA6 which accounts for 42% of the identified individuals, followed by SCA2 and SCA3 which both account for approximately 20% each. Incidence rates were calculated. The study reveals the subtype distribution and incidence of polyglutamine ataxias in Denmark, priming the Danish cohort for future clinical trials as developments in the treatment of polyglutamine ataxia advances.<\/jats:p>","DOI":"10.1007\/s12311-025-01815-0","type":"journal-article","created":{"date-parts":[[2025,3,14]],"date-time":"2025-03-14T05:43:44Z","timestamp":1741931024000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Polyglutamine Ataxias in Denmark: Incidence and Relative Frequencies of SCA1, 2, 3, 6, 7, 17 and DRPLA in a Nationwide Cohort"],"prefix":"10.1007","volume":"24","author":[{"given":"Rosa Dam","family":"Waerling","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jenny","family":"Blechingberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jesper","family":"Kayser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzanne Granh\u00f8j","family":"Lindquist","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tua","family":"Vinther-Jensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f8rgen Erik","family":"Nielsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morten","family":"Duno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,3,14]]},"reference":[{"issue":"9","key":"1815_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. Hereditary ataxias: overview. Genet Med. 2013;15(9):673\u201383.","journal-title":"Genet Med"},{"issue":"1","key":"1815_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. Spinocerebellar ataxia. Nat Rev Dis Primers. 2019;5(1):24.","journal-title":"Nat Rev Dis Primers"},{"issue":"5","key":"1815_CR3","doi-asserted-by":"publisher","first-page":"2152","DOI":"10.1007\/s12311-024-01703-z","volume":"23","author":"LI Rudaks","year":"2024","unstructured":"Rudaks LI, Yeow D, Ng K, Deveson IW, Kennerson ML, Kumar KR. An update on the adult-onset hereditary cerebellar ataxias: novel genetic causes and new diagnostic approaches. Cerebellum. 2024;23(5):2152\u201368.","journal-title":"Cerebellum."},{"issue":"10","key":"1815_CR4","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1038\/nrn.2017.92","volume":"18","author":"HL Paulson","year":"2017","unstructured":"Paulson HL, Shakkottai VG, Clark HB, Orr HT. Polyglutamine spinocerebellar ataxias - from genes to potential treatments. Nat Rev Neurosci. 2017;18(10):613\u201326.","journal-title":"Nat Rev Neurosci"},{"issue":"5","key":"1815_CR5","doi-asserted-by":"publisher","first-page":"2315","DOI":"10.1007\/s00415-021-10874-2","volume":"269","author":"KH Yap","year":"2022","unstructured":"Yap KH, Azmin S, Che Hamzah J, Ahmad N, van de Warrenburg B, Mohamed IN. Pharmacological and non-pharmacological management of spinocerebellar ataxia: a systematic review. J Neurol. 2022;269(5):2315\u201337.","journal-title":"J Neurol"},{"issue":"7650","key":"1815_CR6","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1038\/nature22044","volume":"544","author":"DR Scoles","year":"2017","unstructured":"Scoles DR, Meera P, Schneider MD, Paul S, Dansithong W, Figueroa KP, et al. Antisense oligonucleotide therapy for spinocerebellar ataxia type 2. Nature. 2017;544(7650):362\u20136.","journal-title":"Nature"},{"key":"1815_CR7","doi-asserted-by":"crossref","unstructured":"de Sousa-Lourenco J, Silva AC, Pereira de Almeida L, Nobre RJ. Molecular therapy for\u00a0polyQ\u00a0disorders: from bench to clinical trials. Trends Mol Med. 2024;30(9):804\u20138.","DOI":"10.1016\/j.molmed.2024.05.004"},{"issue":"2","key":"1815_CR8","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/j.molmed.2024.07.008","volume":"31","author":"MLS Eisel","year":"2025","unstructured":"Eisel MLS, Burns M, Ashizawa T, Byrne B, Corti M, Subramony SH. Emerging therapies in hereditary ataxias. Trends Mol Med. 2025;31(2):181\u201394.","journal-title":"Trends Mol Med."},{"issue":"3","key":"1815_CR9","doi-asserted-by":"publisher","first-page":"1176","DOI":"10.1007\/s12311-023-01600-x","volume":"23","author":"F De Mattei","year":"2024","unstructured":"De Mattei F, Ferrandes F, Gallone S, Canosa A, Calvo A, Chio A, et al. Epidemiology of spinocerebellar ataxias in Europe. Cerebellum. 2024;23(3):1176\u201383.","journal-title":"Cerebellum"},{"issue":"12","key":"1815_CR10","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1038\/sj.ejhg.5200557","volume":"8","author":"J Jonasson","year":"2000","unstructured":"Jonasson J, Juvonen V, Sistonen P, Ignatius J, Johansson D, Bjorck EJ, et al. Evidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. Eur J Hum Genet. 2000;8(12):918\u201322.","journal-title":"Eur J Hum Genet"},{"issue":"11","key":"1815_CR11","doi-asserted-by":"publisher","first-page":"1173","DOI":"10.1038\/ejhg.2010.8","volume":"18","author":"J Sequeiros","year":"2010","unstructured":"Sequeiros J, Martindale J, Seneca S, Giunti P, Kamarainen O, Volpini V, et al. EMQN Best Practice Guidelines for molecular genetic testing of SCAs. Eur J Hum Genet. 2010;18(11):1173\u20136.","journal-title":"Eur J Hum Genet"},{"key":"1815_CR12","unstructured":"Perlman S. Hereditary Ataxia Overview. 1998 Oct 28 [updated 2025 Feb 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington; 1993\u20132025."},{"issue":"6","key":"1815_CR13","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1002\/ana.410420615","volume":"42","author":"L Schols","year":"1997","unstructured":"Schols L, Amoiridis G, Buttner T, Przuntek H, Epplen JT, Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol. 1997;42(6):924\u201332.","journal-title":"Ann Neurol"},{"issue":"1","key":"1815_CR14","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1111\/j.1468-1331.2009.02757.x","volume":"17","author":"J Vale","year":"2010","unstructured":"Vale J, Bugalho P, Silveira I, Sequeiros J, Guimaraes J, Coutinho P. Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal. Eur J Neurol. 2010;17(1):124\u20138.","journal-title":"Eur J Neurol"},{"issue":"5","key":"1815_CR15","doi-asserted-by":"publisher","first-page":"702","DOI":"10.1212\/WNL.58.5.702","volume":"58","author":"BP van de Warrenburg","year":"2002","unstructured":"van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, Scheffer H, Brunt ER, Ippel PF, et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology. 2002;58(5):702\u20138.","journal-title":"Neurology"},{"issue":"14","key":"1815_CR16","doi-asserted-by":"publisher","first-page":"1195","DOI":"10.1212\/WNL.0000000000001995","volume":"85","author":"D Bargiela","year":"2015","unstructured":"Bargiela D, Yu-Wai-Man P, Keogh M, Horvath R, Chinnery PF. Prevalence of neurogenetic disorders in the North of England. Neurology. 2015;85(14):1195\u2013201.","journal-title":"Neurology"},{"issue":"1","key":"1815_CR17","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1034\/j.1399-0004.2003.00083.x","volume":"64","author":"N Milman","year":"2003","unstructured":"Milman N, Pedersen P. Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings. Clin Genet. 2003;64(1):36\u201347.","journal-title":"Clin Genet"},{"issue":"4","key":"1815_CR18","first-page":"378","volume":"14","author":"AE Flatt","year":"2001","unstructured":"Flatt AE. The Vikings and Baron Dupuytren\u2019s disease. Proc (Bayl Univ Med Cent). 2001;14(4):378\u201384.","journal-title":"Proc (Bayl Univ Med Cent)"},{"issue":"Pt 6","key":"1815_CR19","doi-asserted-by":"publisher","first-page":"1577","DOI":"10.1093\/brain\/awp056","volume":"132","author":"AK Erichsen","year":"2009","unstructured":"Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM. Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain. 2009;132(Pt 6):1577\u201388.","journal-title":"Brain"},{"issue":"3","key":"1815_CR20","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1038\/jhg.2015.131","volume":"61","author":"I Paradisi","year":"2016","unstructured":"Paradisi I, Ikonomu V, Arias S. Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent. J Hum Genet. 2016;61(3):215\u201322.","journal-title":"J Hum Genet"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-025-01815-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12311-025-01815-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-025-01815-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T01:42:10Z","timestamp":1745804530000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12311-025-01815-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,14]]},"references-count":20,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,6]]}},"alternative-id":["1815"],"URL":"https:\/\/doi.org\/10.1007\/s12311-025-01815-0","relation":{},"ISSN":["1473-4230"],"issn-type":[{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,14]]},"assertion":[{"value":"4 March 2025","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 March 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":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Clinical Trial Number"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"61"}}