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We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a major cause of late onset ataxia. Here we describe the full spectrum of the disease phenotype in our first 100 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sensory neuropathy as a common feature in all cases to date. All patients were Caucasian and half were sporadic. Patients typically reported progressive unsteadiness starting in the sixth decade. A dry spasmodic cough was also frequently associated and often preceded by decades the onset of walking difficulty. Sensory symptoms, oscillopsia, dysautonomia and dysarthria were also variably associated. The disease seems to follow a pattern of spatial progression from the early involvement of sensory neurons, to the later appearance of vestibular and cerebellar dysfunction. Half of the patients needed walking aids after 10 years of disease duration and a quarter were wheelchair dependent after 15 years. Overall, two-thirds of cases had full CANVAS. Sensory neuropathy was the only manifestation in 15 patients. Sixteen patients additionally showed cerebellar involvement, and six showed vestibular involvement. The disease is very likely to be underdiagnosed. Repeat expansion in RFC1 should be considered in all cases of sensory ataxic neuropathy, particularly, but not only, if cerebellar dysfunction, vestibular involvement and cough coexist.<\/jats:p>","DOI":"10.1093\/brain\/awz418","type":"journal-article","created":{"date-parts":[[2020,1,10]],"date-time":"2020-01-10T15:10:23Z","timestamp":1578669023000},"page":"480-490","source":"Crossref","is-referenced-by-count":219,"title":["Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion"],"prefix":"10.1093","volume":"143","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2208-5311","authenticated-orcid":false,"given":"Andrea","family":"Cortese","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK"},{"name":"Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Tozza","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK"},{"name":"Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples \u201cFederico II\u201d, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wai Yan","family":"Yau","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Rossi","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK"},{"name":"Department of Neurology, Fondazione Policlinico Universitario A. Gemelli IRCSS, Rome, Italy; Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3935-2279","authenticated-orcid":false,"given":"Sarah J","family":"Beecroft","sequence":"additional","affiliation":[{"name":"Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zane","family":"Jaunmuktane","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoe","family":"Dyer","sequence":"additional","affiliation":[{"name":"Auckland District Health Board (ADHB), Auckland, New Zealand; Centre of Brain Research Neurogenetics Research Clinic, University of Auckland, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianina","family":"Ravenscroft","sequence":"additional","affiliation":[{"name":"Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillipa J","family":"Lamont","sequence":"additional","affiliation":[{"name":"Neurogenetic Unit, Royal Perth Hospital, Perth, West Australia, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart","family":"Mossman","sequence":"additional","affiliation":[{"name":"Department of Neurology, Wellington Hospital, Wellington 6021, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Chancellor","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tauranga Hospital, Private Bag, Cameron Road, Tauranga 3171, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Maisonobe","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, Department of Neurophysiology, Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Pereon","sequence":"additional","affiliation":[{"name":"CHU Nantes, Reference Centre for Neuromuscular Diseases, H\u00f4tel-Dieu, Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecile","family":"Cauquil","sequence":"additional","affiliation":[{"name":"Department of Neurology, CHU Bic\u00eatre, AP-HP, Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Colnaghi","sequence":"additional","affiliation":[{"name":"IRCCS Mondino Foundation, Pavia, 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UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilson","family":"Marques","sequence":"additional","affiliation":[{"name":"Department of Neurology, School of Medicine of Ribeir\u00e3o Preto, University of S\u00e3o Paulo, Ribeir\u00e3o Preto, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Tassorelli","sequence":"additional","affiliation":[{"name":"IRCCS Mondino Foundation, Pavia, Italy"},{"name":"Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia","family":"Devigili","sequence":"additional","affiliation":[{"name":"UO Neurologia I, Fondazione IRCCS Istituto Neurologico \u201cCarlo Besta\u201d, Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea","family":"Leonardis","sequence":"additional","affiliation":[{"name":"Division of Neurology, Institute of Clinical Neurophysiology, University Medical 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UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Z\u00fcchner","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. 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UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,2,10]]},"reference":[{"key":"2020021011032437500_awz418-B1","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1055\/s-2008-1041406","article-title":"Sensory neuronopathy","volume":"7","author":"Asbury","year":"1987","journal-title":"Semin Neurol"},{"key":"2020021011032437500_awz418-B2","first-page":"1","article-title":"The neck-eye reflex in patients with reduced vestibular and optokinetic function","volume":"114","author":"Bronstein","year":"1991","journal-title":"Brain"},{"key":"2020021011032437500_awz418-B3","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/eye.2014.262","article-title":"A brief review of the clinical anatomy of the vestibular-ocular connections-how much do we 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