{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T16:06:48Z","timestamp":1791821208992,"version":"4.3.4"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:00:00Z","timestamp":1769558400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:00:00Z","timestamp":1769558400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Biallelic pentanucleotide expansions in\n                      <jats:italic>RFC1<\/jats:italic>\n                      cause cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and a growing spectrum of presentations. We aimed to clinically characterize a cohort of patients from Sweden with biallelic expansions in\n                      <jats:italic>RFC1<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We retrospectively enrolled patients with homozygous expansions in\n                      <jats:italic>RFC1<\/jats:italic>\n                      from a tertiary center in Sweden, evaluating clinical and genetic data. Assessments included nerve conduction studies (NCS,\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200927), electromyography (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20097), quantitative sensory testing (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200918), brain MRI (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200927), and vestibular\/eye motor tests (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200918\u201321).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of the 30 patients enrolled, 28 were ethnic Swedish; 17\/30 from smaller regions, including eight (27%) from Norrbotten. Twenty\u2010two patients met the CANVAS criteria. Mean age of onset was 52\u2009\u00b1\u200912\u2009years (range 20\u201370), and disease duration was 14\u2009\u00b1\u200912\u2009years. Symptoms matched the CANVAS acronym with multisystemic features in 83%, including dysautonomia (77%), dyskinesia (36%), and bradykinesia (17%). Phenotypes overlapped with MSA\u2010C (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20092) and mitochondrial ataxias (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091). Notably, one symptomatic patient lacked neuropathy on NCS. Annual disease progression was slow (0.3 by spinocerebellar degeneration functional score, 1.2 by SARA). At vestibular testing, 47% showed a preserved caloric response and pathologic angular VOR with a nonsignificant trend among younger patients and milder ataxia; otolith function was largely preserved.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>\n                      Our findings expand the\n                      <jats:italic>RFC1<\/jats:italic>\n                      spectrum, suggesting a founder effect in Sweden and extensive subclinical involvement.\n                      <jats:italic>RFC1\u2010spectrum<\/jats:italic>\n                      disorder should also be considered in patients with cerebellar and vestibular dysfunction but lacking neuropathy. A discordant VOR pattern may represent an incipient sign of\n                      <jats:italic>RFC1\u2010<\/jats:italic>\n                      spectrum disorder; interestingly, otolith pathways seem to be generally spared.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.70488","type":"journal-article","created":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T12:55:28Z","timestamp":1769604928000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel Clinical Insights From a Swedish\n                    <scp>\n                      <i>RFC1<\/i>\n                    <\/scp>\n                    Spectrum Disorder Cohort"],"prefix":"10.1111","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0429-5237","authenticated-orcid":false,"given":"Victor","family":"Alm","sequence":"first","affiliation":[{"name":"Department of Neurology Karolinska University Hospital  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