{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T06:00:01Z","timestamp":1794031201851,"version":"4.8.0"},"reference-count":31,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Neurol Neurosurg Psychiatry"],"published-print":{"date-parts":[[2015,9]]},"DOI":"10.1136\/jnnp-2014-309153","type":"journal-article","created":{"date-parts":[[2014,12,5]],"date-time":"2014-12-05T04:46:30Z","timestamp":1417754790000},"page":"986-995","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":60,"title":["Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion"],"prefix":"10.1136","volume":"86","author":[{"given":"Masato","family":"Obayashi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Stevanin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthis","family":"Synofzik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Lorraine","family":"Monin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Duyckaerts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nozomu","family":"Sato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Streichenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Vighetto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Desestret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"Tesson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H-Erich","family":"Wichmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Illig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Huttenlocher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Kita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuishin","family":"Izumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidehiro","family":"Mizusawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Klopstock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kinya","family":"Ishikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"D\u00fcrr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2014,12,4]]},"reference":[{"key":"key-10.1136\/jnnp-2014-309153-1","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/S1474-4422(10)70183-6","article-title":"Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond","volume":"9","author":"D\u00fcrr","year":"2012","journal-title":"Lancet Neurol"},{"key":"key-10.1136\/jnnp-2014-309153-2","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1002\/ana.23701","article-title":"Mutations in KCND3 cause spinocerebellar ataxia type 22","volume":"72","author":"Lee","year":"2012","journal-title":"Ann Neurol"},{"key":"key-10.1136\/jnnp-2014-309153-3","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1001\/jamaneurol.2013.2311","article-title":"New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32","volume":"70","author":"Serrano-Munuera","year":"2013","journal-title":"JAMA Neurol"},{"key":"key-10.1136\/jnnp-2014-309153-4","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.ajhg.2011.05.015","article-title":"Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement","volume":"89","author":"Kobayashi","year":"2011","journal-title":"Am J Hum Genet"},{"key":"key-10.1136\/jnnp-2014-309153-5","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1093\/brain\/aws069","article-title":"\u2018Costa da Morte\u2019 ataxia is spinocerebellar ataxia 36: clinical and genetic characterization","volume":"135","author":"Garc\u00eda-Murias","year":"2012","journal-title":"Brain"},{"key":"key-10.1136\/jnnp-2014-309153-6","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1002\/mds.25092","article-title":"The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients","volume":"27","author":"Sugihara","year":"2012","journal-title":"Mov Dis"},{"key":"key-10.1136\/jnnp-2014-309153-7","doi-asserted-by":"crossref","first-page":"3811","DOI":"10.1093\/hmg\/ddr299","article-title":"Cellular toxicity of expanded RNA repeats: focus on RNA foci","volume":"20","author":"Wojciechowska","year":"2011","journal-title":"Hum Mol Genet"},{"key":"key-10.1136\/jnnp-2014-309153-8","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1016\/j.ajhg.2009.09.019","article-title":"Spinocerebellar ataxia type 31 is associated with \u201cinserted\u201d penta-nuclotide repeats containing (TGGAA)n","volume":"85","author":"Sato","year":"2009","journal-title":"Am J Hum Genet"},{"key":"key-10.1136\/jnnp-2014-309153-9","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC hexanucleotide repeat in noncoding region of C9orf72 causes chromosome 9p-linked FTD and ALS","volume":"72","author":"DeJesus-Hernandez","year":"2011","journal-title":"Neuron."},{"key":"key-10.1136\/jnnp-2014-309153-10","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","article-title":"A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALS-FTD","volume":"72","author":"Renton","year":"2011","journal-title":"Neuron"},{"key":"key-10.1136\/jnnp-2014-309153-11","doi-asserted-by":"crossref","first-page":"1853","DOI":"10.1212\/WNL.0b013e3182377e3a","article-title":"Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians","volume":"77","author":"Ishikawa","year":"2011","journal-title":"Neurology"},{"key":"key-10.1136\/jnnp-2014-309153-12","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1038\/jhg.2012.5","article-title":"Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage","volume":"57","author":"Obayashi","year":"2012","journal-title":"J Hum Genet"},{"key":"key-10.1136\/jnnp-2014-309153-13","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1136\/jmg.2010.087023","article-title":"Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features","volume":"48","author":"Synofzik","year":"2011","journal-title":"J Med Genet"},{"issue":"(4 Suppl)","key":"key-10.1136\/jnnp-2014-309153-14","doi-asserted-by":"crossref","first-page":"S85","DOI":"10.1016\/S0197-4580(97)00062-6","article-title":"Diagnostic criteria for neuropathologic assessment of Alzheimer's disease","volume":"18","author":"Braak","year":"1997","journal-title":"Neurobiol Aging"},{"key":"key-10.1136\/jnnp-2014-309153-15","doi-asserted-by":"crossref","first-page":"e4553","DOI":"10.1371\/journal.pone.0004553","article-title":"Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)","volume":"4","author":"Almeida","year":"2009","journal-title":"PLoS ONE"},{"key":"key-10.1136\/jnnp-2014-309153-16","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1212\/WNL.0b013e318260436f","article-title":"Clinical features of SCA36. A novel spinocerebellar ataxia with motor neuron involvement (Asidan)","volume":"79","author":"Ikeda","year":"2012","journal-title":"Neurology"},{"key":"key-10.1136\/jnnp-2014-309153-17","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1007\/s00401-012-1022-4","article-title":"The genetics and neuropathology of amyotrophic lateral sclerosis","volume":"124","author":"Al-Chalabi","year":"2012","journal-title":"Acta Neuropathol"},{"key":"key-10.1136\/jnnp-2014-309153-18","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1093\/brain\/aws004","article-title":"Characterization of frontotemporal dementia and\/or amyotrophic lateral sclerosis associated with the GGGGCC expansion in C9orf72","volume":"135","author":"Boeve","year":"2012","journal-title":"Brain"},{"key":"key-10.1136\/jnnp-2014-309153-19","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1093\/brain\/awh683","article-title":"Neuropathology of fragile X-associated tremor\/ataxia syndrome (FXTAS)","volume":"129","author":"Greco","year":"2006","journal-title":"Brain"},{"key":"key-10.1136\/jnnp-2014-309153-20","doi-asserted-by":"crossref","first-page":"e1000984","DOI":"10.1371\/journal.pgen.1000984","article-title":"Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKC[delta] to mitochondria in spinocerebellar ataxia 10","volume":"6","author":"White","year":"2010","journal-title":"PLoS Genet"},{"key":"key-10.1136\/jnnp-2014-309153-21","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1111\/neup.12032","article-title":"Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis","volume":"33","author":"Niimi","year":"2013","journal-title":"Neuropathology"},{"key":"key-10.1136\/jnnp-2014-309153-22","first-page":"414","article-title":"Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy","volume":"54","author":"Ashizawa","year":"1994","journal-title":"Am J Hum Genet"},{"key":"key-10.1136\/jnnp-2014-309153-23","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1136\/jmg.2007.050930","article-title":"Factors associated with HD CAG repeat instability in Huntington disease","volume":"44","author":"Wheeler","year":"2007","journal-title":"J Med Genet"},{"key":"key-10.1136\/jnnp-2014-309153-24","doi-asserted-by":"crossref","first-page":"e413","DOI":"10.1016\/j.ejmg.2011.04.002","article-title":"Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease","volume":"54","author":"Aziz","year":"2011","journal-title":"Eur J Med Genet"},{"key":"key-10.1136\/jnnp-2014-309153-25","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1212\/WNL.0b013e31827f08ea","article-title":"C9orf72 hexanucleotide expansions of 20\u201322 repeats are associated with frontotemporal deterioration","volume":"80","author":"G\u00f3mez-Tortosa","year":"2013","journal-title":"Neurology"},{"key":"key-10.1136\/jnnp-2014-309153-26","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1093\/brain\/aws357","article-title":"C9orf72 repeat expansions are a rare genetic cause of parkinsonism","volume":"136","author":"Lesage","year":"2013","journal-title":"Brain"},{"key":"key-10.1136\/jnnp-2014-309153-27","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/nature06684","article-title":"The MC-Fold and MC-Sym pipeline infers RNA structure from sequence data","volume":"452","author":"Parisien","year":"2008","journal-title":"Nature"},{"key":"key-10.1136\/jnnp-2014-309153-28","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1073\/pnas.1013343108","article-title":"et al. Non-ATG-initiated translation directed by microsatellite expansions","volume":"108","author":"Zu","year":"2011","journal-title":"Proc Natl Acad Sci USA"},{"key":"key-10.1136\/jnnp-2014-309153-29","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1126\/science.1232927","article-title":"The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD\/ALS","volume":"339","author":"Mori","year":"2013","journal-title":"Science"},{"key":"key-10.1136\/jnnp-2014-309153-30","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.neuron.2013.02.004","article-title":"Unconventional translation of C9orf72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD\/ALS","volume":"77","author":"Ash","year":"2013","journal-title":"Neuron"},{"key":"key-10.1136\/jnnp-2014-309153-31","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.neuron.2013.03.026","article-title":"CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome","volume":"78","author":"Todd","year":"2013","journal-title":"Neuron"}],"container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp-2014-309153","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T17:58:35Z","timestamp":1601056715000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp-2014-309153"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12,4]]},"references-count":31,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2015,8,13]]},"published-print":{"date-parts":[[2015,9]]}},"alternative-id":["10.1136\/jnnp-2014-309153"],"URL":"https:\/\/doi.org\/10.1136\/jnnp-2014-309153","relation":{},"ISSN":["0022-3050","1468-330X"],"issn-type":[{"value":"0022-3050","type":"print"},{"value":"1468-330X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12,4]]}}}