{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T02:16:43Z","timestamp":1789784203952,"version":"4.0.1"},"reference-count":23,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jns-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2023,3]]},"DOI":"10.1016\/j.jns.2023.120565","type":"journal-article","created":{"date-parts":[[2023,1,27]],"date-time":"2023-01-27T23:56:18Z","timestamp":1674863778000},"page":"120565","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"special_numbering":"C","title":["RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit"],"prefix":"10.1016","volume":"446","author":[{"given":"Daniel","family":"S\u00e1nchez-Tejerina","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula Fernandez","family":"Alvarez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"La\u00ednez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria Gonzalez","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela Isabel","family":"Santa-Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lena","family":"Verdaguer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarida","family":"Gratac\u00f2s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose Luis","family":"Seoane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N\u00faria","family":"Raguer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"Hern\u00e1ndez-Vara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnau","family":"Llaurad\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Sotoca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Salvado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena Garcia","family":"Arumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo F.","family":"Tizzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ra\u00fal","family":"Juntas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2023.120565_bb0005","doi-asserted-by":"crossref","DOI":"10.1136\/bmj.l1108","article-title":"Diagnosis and management of sensory polyneuropathy","author":"Gwathmey","year":"2019","journal-title":"BMJ"},{"key":"10.1016\/j.jns.2023.120565_bb0010","article-title":"The ataxic neuropathies","author":"Mathis","year":"2020","journal-title":"J. Neurol."},{"key":"10.1016\/j.jns.2023.120565_bb0015","doi-asserted-by":"crossref","first-page":"1903","DOI":"10.1007\/s00415-016-8082-7","article-title":"Chronic idiopathic axonal polyneuropathy: a systematic review","volume":"263","author":"Zis","year":"2016","journal-title":"J. Neurol."},{"key":"10.1016\/j.jns.2023.120565_bb0020","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1002\/mus.24969","article-title":"Causes of neuropathy in patients referred as \u201cidiopathic neuropathy\u201d: causes of neuropathy","volume":"53","author":"Farhad","year":"2016","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jns.2023.120565_bb0025","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1056\/NEJMra2023935","article-title":"Sensory ganglionopathy","volume":"383","author":"Amato","year":"2020","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.jns.2023.120565_bb0030","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/mus.24943","article-title":"Sensory neuronopathies: sensory neuronopathies","volume":"53","author":"Gwathmey","year":"2016","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.jns.2023.120565_bb0035","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.ajhg.2019.05.016","article-title":"Bioinformatics-based identification of expanded repeats: a non-reference Intronic Pentamer expansion in RFC1 causes CANVAS","volume":"105","author":"Rafehi","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jns.2023.120565_bb0040","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1093\/brain\/awz418","article-title":"Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion","volume":"143","author":"Cortese","year":"2020","journal-title":"Brain"},{"key":"10.1016\/j.jns.2023.120565_bb0045","doi-asserted-by":"crossref","first-page":"e1369","DOI":"10.1212\/WNL.0000000000011528","article-title":"Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1 disease","volume":"96","author":"Trasch\u00fctz","year":"2021","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2023.120565_bb0050","series-title":"RFC1 CANVAS \/ Spectrum Disorder n.d.:19","author":"Cortese","year":"2022"},{"key":"10.1016\/j.jns.2023.120565_bb0055","first-page":"awab072","article-title":"RFC1 expansions are a common cause of idiopathic sensory neuropathy","author":"Curr\u00f2","year":"2021","journal-title":"Brain"},{"key":"10.1016\/j.jns.2023.120565_bb0060","doi-asserted-by":"crossref","first-page":"4280","DOI":"10.1007\/s00415-021-10552-3","article-title":"RFC1 AAGGG repeat expansion masquerading as chronic idiopathic axonal polyneuropathy","volume":"268","author":"Tagliapietra","year":"2021","journal-title":"J. Neurol."},{"key":"10.1016\/j.jns.2023.120565_bb0065","article-title":"Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects","author":"Cortese","year":"2021","journal-title":"Pract. Neurol."},{"key":"10.1016\/j.jns.2023.120565_bb0070","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/s41588-019-0372-4","article-title":"Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia","volume":"51","author":"Cortese","year":"2019","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jns.2023.120565_bb0075","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1007\/s00415-020-10183-0","article-title":"CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions","volume":"268","author":"Dominik","year":"2021","journal-title":"J. Neurol."},{"key":"10.1016\/j.jns.2023.120565_bb0080","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1097\/WCO.0000000000000961","article-title":"Cerebellar ataxia, neuropathy, vestibular areflexia syndrome: genetic and clinical insights","volume":"34","author":"Sullivan","year":"2021","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.jns.2023.120565_bb0085","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.jns.2018.01.023","article-title":"Normal tendon reflexes despite absent sensory nerve action potentials in CANVAS: a neurophysiological study","volume":"387","author":"Burke","year":"2018","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.jns.2023.120565_bb0090","first-page":"awab449","article-title":"Motor neuron pathology in CANVAS due to RFC1 expansions","author":"Huin","year":"2021","journal-title":"Brain"},{"key":"10.1016\/j.jns.2023.120565_bb0095","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1007\/s00415-018-8872-1","article-title":"Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres","volume":"265","author":"Infante","year":"2018","journal-title":"J. Neurol."},{"key":"10.1016\/j.jns.2023.120565_bb0100","doi-asserted-by":"crossref","first-page":"e82","DOI":"10.1093\/brain\/awaa244","article-title":"RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sj\u00f6gren syndrome","volume":"143","author":"Kumar","year":"2020","journal-title":"Brain"},{"key":"10.1016\/j.jns.2023.120565_bb0105","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1136\/annrheumdis-2016-210571","article-title":"2016 American College of Rheumatology\/European league against rheumatism classification criteria for primary Sj\u00f6gren\u2019s syndrome: a consensus and data-driven methodology involving three international patient cohorts","volume":"76","author":"Shiboski","year":"2017","journal-title":"Ann. Rheum. Dis."},{"key":"10.1016\/j.jns.2023.120565_bb0110","doi-asserted-by":"crossref","first-page":"5668","DOI":"10.1007\/s00415-022-11184-x","article-title":"Association between inflammatory central nervous system lesions and cerebellar Ataxia, neuropathy and vestibular Areflexia syndrome (CANVAS): a case series","volume":"269","author":"Azzimonti","year":"2022","journal-title":"J. Neurol."},{"key":"10.1016\/j.jns.2023.120565_bb0115","first-page":"27","article-title":"Abstract supplement","volume":"2022","author":"PNS","year":"2022","journal-title":"J. Peripheral Nervous. Syst."}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X23000254?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X23000254?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T20:25:49Z","timestamp":1753907149000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X23000254"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3]]},"references-count":23,"alternative-id":["S0022510X23000254"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2023.120565","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2023,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2023.120565","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"120565"}}