{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T15:08:04Z","timestamp":1789744084242,"version":"4.0.1"},"reference-count":34,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:00:00Z","timestamp":1789689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:00:00Z","timestamp":1789689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"abstract":"<jats:p>\n                    Biallelic mutations in the\n                    <jats:italic toggle=\"yes\">RFC1<\/jats:italic>\n                    gene are associated with CANVAS syndrome (cerebellar ataxia, neuropathy and vestibular areflexia). Peripheral nerve involvement in the form of sensory neuronopathy and small fiber autonomic axonopathy is a core feature of its presentation. Motor manifestations, in the other hand, remain poorly understood and incompletely characterized.\n                  <\/jats:p>\n                  <jats:p>We present two cases referred for evaluation of muscle cramps as the main clinical symptom, who were ultimately diagnosed with CANVAS. We also conducted a literature review on cramps and other motor manifestations as the predominant symptom in this condition.<\/jats:p>\n                  <jats:p>\n                    This study highlights the recognition of cramps as a possible isolated motor manifestation, expanding the phenotypic spectrum of\n                    <jats:italic toggle=\"yes\">RFC1<\/jats:italic>\n                    -related disease and the need of a high index of suspicion to accurately identified the condition.\n                  <\/jats:p>","DOI":"10.1177\/22143602261485644","type":"journal-article","created":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T14:34:06Z","timestamp":1789742046000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Cramps as the initial presentation of CANVAS\/RFC1-related disorder"],"prefix":"10.1177","author":[{"given":"Joaqu\u00edn","family":"Machado","sequence":"first","affiliation":[{"name":"The Ottawa Hospital"},{"name":"University of Ottawa"},{"name":"The Ottawa Hospital Research Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyn","family":"Zwicker","sequence":"additional","affiliation":[{"name":"The Ottawa Hospital"},{"name":"University of Ottawa"},{"name":"The Ottawa Hospital Research Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre R.","family":"Bourque","sequence":"additional","affiliation":[{"name":"The Ottawa Hospital"},{"name":"University of Ottawa"},{"name":"The Ottawa Hospital Research Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"The Ottawa Hospital"},{"name":"University of Ottawa"},{"name":"The Ottawa Hospital Research Institute"},{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0187-2199","authenticated-orcid":false,"given":"Jodi","family":"Warman-Chardon","sequence":"additional","affiliation":[{"name":"The Ottawa Hospital"},{"name":"University of Ottawa"},{"name":"The Ottawa Hospital Research Institute"},{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Aleman","sequence":"additional","affiliation":[{"name":"The Ottawa Hospital"},{"name":"University of Ottawa"},{"name":"The Ottawa Hospital Research Institute"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fien","family":"Oelbrandt","sequence":"additional","affiliation":[{"name":"The Ottawa Hospital"},{"name":"University of Ottawa"},{"name":"The Ottawa Hospital Research 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