{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:03:18Z","timestamp":1787497398751,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,12,27]],"date-time":"2023-12-27T00:00:00Z","timestamp":1703635200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109486"],"award-info":[{"award-number":["JP21ek0109486"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109493"],"award-info":[{"award-number":["JP21ek0109493"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109549"],"award-info":[{"award-number":["JP21ek0109549"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP22ek0109595h0001"],"award-info":[{"award-number":["JP22ek0109595h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23bm1423020h0001"],"award-info":[{"award-number":["JP23bm1423020h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP23ek0109648h0001"],"award-info":[{"award-number":["JP23ek0109648h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["20K07907"],"award-info":[{"award-number":["20K07907"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21K07298"],"award-info":[{"award-number":["21K07298"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21K07419"],"award-info":[{"award-number":["21K07419"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21K07440"],"award-info":[{"award-number":["21K07440"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21K07465"],"award-info":[{"award-number":["21K07465"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["21K07869"],"award-info":[{"award-number":["21K07869"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007428","name":"Naito Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016925","name":"Takeda Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017104","name":"Yokohama City University","doi-asserted-by":"publisher","award":["#SK2804"],"award-info":[{"award-number":["#SK2804"]}],"id":[{"id":"10.13039\/100017104","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:p>Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late\u2010onset, autosomal recessive neurodegenerative disorder caused by biallelic AAGGG\/ACAGG repeat expansion (AAGGG\u2010exp\/ACAGG\u2010exp) in <jats:italic>RFC1<\/jats:italic>. The recent identification of patients with CANVAS exhibiting compound heterozygosity for AAGGG\u2010exp and truncating variants supports the loss\u2010of\u2010function of <jats:italic>RFC1<\/jats:italic> in CANVAS patients. We investigated the pathological changes in 2 autopsied patients with CANVAS harboring biallelic ACAGG\u2010exp and AAGGG\u2010exp. RNA fluorescence in situ hybridization of the 2 patients revealed CCTGT\u2010 and CCCTT\u2010containing RNA foci, respectively, in neuronal nuclei of tissues with neuronal loss. Our findings suggest that RNA toxicity may be involved in the pathogenesis of CANVAS. ANN NEUROL 2024;95:607\u2013613<\/jats:p>","DOI":"10.1002\/ana.26848","type":"journal-article","created":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T06:42:18Z","timestamp":1702017738000},"page":"607-613","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<scp>RNA<\/scp> Foci in Two bi\u2010Allelic <scp>RFC1<\/scp> Expansion Carriers"],"prefix":"10.1002","volume":"95","author":[{"given":"Taishi","family":"Wada","sequence":"first","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5807-2523","authenticated-orcid":false,"given":"Hiroshi","family":"Doi","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaki","family":"Okubo","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikiko","family":"Tada","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naohisa","family":"Ueda","sequence":"additional","affiliation":[{"name":"Department of Neurology Yokohama City University Medical Center  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidefumi","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wakana","family":"Tominaga","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruki","family":"Koike","sequence":"additional","affiliation":[{"name":"Department of Neurology Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyasu","family":"Komiya","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shun","family":"Kubota","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunta","family":"Hashiguchi","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruko","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keita","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Misako","family":"Kunii","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichi","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosuke","family":"Miyaji","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichi","family":"Higashiyama","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eriko","family":"Koshimizu","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7587-5168","authenticated-orcid":false,"given":"Satoko","family":"Miyatake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"},{"name":"Clinical Genetics Department Yokohama City University Hospital  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9453-9311","authenticated-orcid":false,"given":"Masahisa","family":"Katsuno","sequence":"additional","affiliation":[{"name":"Department of Neurology Nagoya University Graduate School of Medicine  Nagoya Japan"},{"name":"Department of Clinical Research Education Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Fujii","sequence":"additional","affiliation":[{"name":"Department of Molecular Pathology Yokohama City University Graduate School of Medicine, 3\u20109 Fukuura  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidehisa","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9846-6500","authenticated-orcid":false,"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideyuki","family":"Takeuchi","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9961-2693","authenticated-orcid":false,"given":"Fumiaki","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-018-0047-2"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0372-4"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.05.016"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-020-0733-y"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa263"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab363"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14973"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2013.02.004"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac280"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1088583"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2017.02.046"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/bpa.13051"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab449"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2011.06158.x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000352"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes8020052"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2019.01.049"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-011-0910-3"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-020-02255-2"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-006-0127-z"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.26848","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,29]],"date-time":"2024-03-29T07:47:50Z","timestamp":1711698470000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.26848"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,27]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1002\/ana.26848"],"URL":"https:\/\/doi.org\/10.1002\/ana.26848","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,27]]},"assertion":[{"value":"2023-06-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}