{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:25:00Z","timestamp":1791293100476,"version":"4.1.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2009,3,1]],"date-time":"2009-03-01T00:00:00Z","timestamp":1235865600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2009,3]]},"DOI":"10.1007\/s00415-009-0015-2","type":"journal-article","created":{"date-parts":[[2009,3,3]],"date-time":"2009-03-03T00:56:46Z","timestamp":1236041806000},"page":"343-348","source":"Crossref","is-referenced-by-count":24,"title":["The genetic aetiology of late-onset chronic progressive cerebellar ataxia"],"prefix":"10.1007","volume":"256","author":[{"given":"Mark","family":"Wardle","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Majounie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustapha B.","family":"Muzaimi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel M.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huw R.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil P.","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,3,6]]},"reference":[{"key":"15_CR1","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1212\/01.WNL.0000148723.37489.3F","volume":"64","author":"Brussino","year":"2005","unstructured":"Brussino A, Gellera C, Saluto A, et al.(2005) FMR1 gene premutation is afrequent genetic cause of late-onsetsporadic cerebellar ataxia. Neurology64:145\u2013147","journal-title":"Neurology"},{"key":"15_CR2","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/S1525-1578(10)60523-5","volume":"6","author":"Ciotti","year":"2004","unstructured":"Ciotti P, Maria ED, Bellone E, et al.(2004) Triplet repeat primed PCR (TPPCR) in molecular diagnostic testingfor Friedreich ataxia. J Mol Diagn6:285\u2013289","journal-title":"J Mol Diagn"},{"key":"15_CR3","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1093\/brain\/121.3.459","volume":"121","author":"Giunti","year":"1998","unstructured":"Giunti P, Sabbadini G, Sweeney MG,et al. (1998) The role of the SCA2 trinucleotiderepeat expansion in 89 autosomaldominant cerebellar ataxiafamilies. Frequency, clinical and geneticcorrelates. Brain 121:459\u2013467","journal-title":"Brain"},{"key":"15_CR4","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1093\/brain\/awg050","volume":"126","author":"Hadjivassiliou","year":"2003","unstructured":"Hadjivassiliou M, Grunewald R,Sharrack B, et al. (2003) Gluten ataxia inperspective: epidemiology, genetic susceptibilityand clinical characteristics.Brain 126:685\u2013691","journal-title":"Brain"},{"key":"15_CR5","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1086\/386296","volume":"74","author":"Hagerman","year":"2004","unstructured":"Hagerman PJ, Hagerman RJ (2004) Thefragile-X premutation: a maturing perspective.Am J Hum Genet 74:805\u2013816","journal-title":"Am J Hum Genet"},{"key":"15_CR6","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1212\/WNL.57.1.127","volume":"57","author":"Hagerman","year":"2001","unstructured":"Hagerman RJ, Leehey M, Heinrichs W,et al. (2001) Intention tremor, parkinsonism,and generalized brain atrophyin male carriers of fragile X. Neurology57:127\u2013130","journal-title":"Neurology"},{"key":"15_CR7","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1086\/422014","volume":"75","author":"Ikeda","year":"2004","unstructured":"Ikeda Y, Dalton JC, Moseley ML, et al.(2004) Spinocerebellar ataxia type 8:molecular genetic comparisons andhaplotype analysis of 37 families withataxia. Am J Hum Genet 75:3\u201316","journal-title":"Am J Hum Genet"},{"key":"15_CR8","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ng0593-72","volume":"4","author":"Imbert","year":"1993","unstructured":"Imbert G, Kretz C, Johnson K, et al.(1993) Origin of the expansion mutationin myotonic dystrophy. Nat Genet4:72\u201376","journal-title":"Nat Genet"},{"key":"15_CR9","first-page":"154","volume":"111","author":"Juvonen","year":"2005","unstructured":"Juvonen V, Hietala M, Kairisto V, et al.(2005) The occurrence of dominantspinocerebellar ataxias among 251Finnish ataxia patients and the role ofpredisposing large normal alleles in agenetically isolated population. ActaNeurol Scand 111:154\u2013162","journal-title":"ActaNeurol Scand"},{"key":"15_CR10","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1136\/jmg.34.12.982","volume":"34","author":"Leggo","year":"1997","unstructured":"Leggo J, Dalton A, Morrison P, et al.(1997) Analysis of spinocerebellarataxia types 1, 2, 3, and 6, dentatorubralpallidoluysianatrophy, and Friedreich\u2019sataxia genes in spinocerebellar ataxiapatients in the UK. J Med Genet 34:982\u2013985","journal-title":"J Med Genet"},{"key":"15_CR11","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.neulet.2007.09.055","volume":"429","author":"Majounie","year":"2007","unstructured":"Majounie E, Wardle M, Muzaimi M, et al.(2007) Case control analysis of repeatexpansion size in ataxia. Neurosci Lett429:28\u201332","journal-title":"Neurosci Lett"},{"key":"15_CR12","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1002\/ajmg.10514","volume":"114","author":"Maruyama","year":"2002","unstructured":"Maruyama H, Izumi Y, Morino H, et al.(2002) Difference in disease-free survivalcurve and regional distributionaccording to subtype of spinocerebellarataxia: a study of 1,286 Japanese patients.Am J Med Genet 114:578\u2013583","journal-title":"Am J Med Genet"},{"key":"15_CR13","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/S0022-510X(99)00076-3","volume":"164","author":"Nagaoka","year":"1999","unstructured":"Nagaoka U, Suzuki Y, Kawanami T, et al.(1999) Regional differences in geneticsubgroup frequency in hereditary cerebellarataxia, and a morpho-metricalstudy of brain MR images in SCA1, MJDand SCA6. J Neurol Sci 164:187\u2013194","journal-title":"J Neurol Sci"},{"key":"15_CR14","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/S0022-510X(00)00390-7","volume":"178","author":"Onodera","year":"2000","unstructured":"Onodera Y, Aoki M, Tsuda T, et al. (2000)High prevalence of spinocerebellarataxia type 1 (SCA1) in an isolatedregion of Japan. J Neurol Sci 178:153\u2013158","journal-title":"J Neurol Sci"},{"key":"15_CR15","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1007\/s004390050997","volume":"104","author":"Pujana","year":"1999","unstructured":"Pujana MA, Corral J, Gratac\u00f2s M, et al.(1999) Spinocerebellar ataxias inSpanish patients: genetic analysis offamilial and sporadic cases. The AtaxiaStudy Group. Hum Genet 104:516\u2013522","journal-title":"Hum Genet"},{"key":"15_CR16","unstructured":"R Development Core Team (2007) R: ALanguage and Environment for StatisticalComputing. R Foundation for StatisticalComputing, Vienna, Austria. ISBN3-900051-07-0"},{"key":"15_CR17","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/s004390051026","volume":"106","author":"Saleem","year":"2000","unstructured":"Saleem Q, Choudhry S, Mukerji M, et al.(2000) Molecular analysis of autosomaldominant hereditary ataxias in theIndian population: high frequency ofSCA2 and evidence for a commonfounder mutation. Hum Genet 106:179\u2013187","journal-title":"Hum Genet"},{"key":"15_CR18","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1007\/s004390000346","volume":"107","author":"Schols","year":"2000","unstructured":"Schols L, Szymanski S, Peters S, et al.(2000) Genetic background of apparentlyidiopathic sporadic cerebellarataxia. Hum Genet 107:132\u2013137","journal-title":"Hum Genet"},{"key":"15_CR19","first-page":"623","volume":"59","author":"Silveira","year":"2002","unstructured":"Silveira I, Miranda C, Guimar\u00e3es L, et al.(2002) Trinucleotide repeats in 202families with ataxia: a small expanded(CAG)n allele at the SCA17 locus. ArchNeurol 59:623\u2013629","journal-title":"ArchNeurol"},{"key":"15_CR20","doi-asserted-by":"crossref","first-page":"2103","DOI":"10.1093\/hmg\/3.12.2103","volume":"3","author":"Squitieri","year":"1994","unstructured":"Squitieri F, Andrew SE, Goldberg YP,et al. (1994) DNA haplotype analysis ofHuntington disease reveals clues to theorigins and mechanisms of CAG expansionand reasons for geographic variationsof prevalence. Hum Mol Genet3:2103\u20132114","journal-title":"Hum Mol Genet"},{"key":"15_CR21","first-page":"213","volume":"24","author":"Stevanin","year":"2000","unstructured":"Stevanin G, Herman A, D\u00fcrr A, et al.(2000) Are (CTG)n expansions at theSCA8 locus rare polymorphisms? NatGenet 24:213","journal-title":"NatGenet"},{"key":"15_CR22","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1086\/302067","volume":"63","author":"Takano","year":"1998","unstructured":"Takano H, Cancel G, Ikeuchi T, et al.(1998) Close associations betweenprevalences of dominantly inheritedspinocerebellar ataxias with CAG-repeatexpansions and frequencies of largenormal CAG alleles in Japanese andCaucasian populations. Am J HumGenet 63:1060\u20131066","journal-title":"Am J HumGenet"},{"key":"15_CR23","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1038\/sj.ejhg.5201312","volume":"13","author":"Van Esch","year":"2005","unstructured":"Van Esch H, Dom R, Bex D, et al. (2005)Screening for FMR-1 premutations in122 older Flemish males presentingwith ataxia. Eur J Hum Genet 13:121\u2013123","journal-title":"Eur J Hum Genet"},{"key":"15_CR24","doi-asserted-by":"crossref","unstructured":"Wardle M, Majounie E, Williams N, et al.(2007) Dentatorubral pallidoluysianatrophy in South Wales. J Neurol NeurosurgPsychiatry. Published Online First:26 October 2007. doi:10.1136\/jnnp.2007.128074","DOI":"10.1136\/jnnp.2007.128074"},{"key":"15_CR25","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1034\/j.1399-0004.1998.531530104.x","volume":"53","author":"Watanabe","year":"1998","unstructured":"Watanabe H, Tanaka F, Matsumoto M,et al. (1998) Frequency analysis of autosomaldominant cerebellar ataxias inJapanese patients and clinical characterizationof spinocerebellar ataxia type6. Clin Genet 53:13\u201319","journal-title":"Clin Genet"},{"key":"15_CR26","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/73411","volume":"24","author":"Worth","year":"2000","unstructured":"Worth PF, Houlden H, Giunti P, et al.(2000) Large, expanded repeats in SCA8are not confined to patients with cerebellarataxia. Nat Genet 24:214\u2013215","journal-title":"Nat Genet"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-009-0015-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-009-0015-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-009-0015-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T15:08:19Z","timestamp":1559056099000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-009-0015-2"}},"subtitle":["A population-based study"],"short-title":[],"issued":{"date-parts":[[2009,3]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["15"],"URL":"https:\/\/doi.org\/10.1007\/s00415-009-0015-2","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3]]}}}