{"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":1789784203992,"version":"4.0.1"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,9,17]],"date-time":"2024-09-17T00:00:00Z","timestamp":1726531200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,9,17]],"date-time":"2024-09-17T00:00:00Z","timestamp":1726531200000},"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":["Muscle and Nerve"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction\/Aims<\/jats:title>\n                    <jats:p>\n                      Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is caused by\n                      <jats:italic>RFC1<\/jats:italic>\n                      expansions. Sensory neuronopathy, polyneuropathy, and involvement of motor, autonomic, and cranial nerves have all been described with\n                      <jats:italic>RFC1<\/jats:italic>\n                      expansions. We aimed to describe the electrodiagnostic features of patients with\n                      <jats:italic>RFC1<\/jats:italic>\n                      expansions through multimodal electrophysiological investigations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Thirty\u2010five patients, with a median age of 70\u2009years, and pathologic biallelic repeat expansions in the\n                      <jats:italic>RFC1<\/jats:italic>\n                      gene, were tested for motor and sensory nerve conduction, flexor carpi radialis (FCR) and soleus H\u2010reflexes, blink reflex, electrochemical skin conductance, sympathetic skin response (SSR), and heart rate variability with deep breathing (HRV).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Only 16 patients (46%) exhibited the full clinical CANVAS spectrum. Distal motor amplitudes were normal in 30 patients and reduced in the legs of five patients. Distal sensory amplitudes were bilaterally reduced in a non\u2010length dependent manner in 30 patients. Conduction velocities were normal. Soleus H\u2010reflexes were abnormal in 19\/20 patients of whom seven had preserved Achilles reflexes. FCR H\u2010reflexes were absent or decreased in amplitude in 13\/14 patients. Blink reflex was abnormal in 4\/19 patients: R1 latencies for two patients and R2 latencies for two others. Fourteen out of 31 patients (45%) had abnormal results in at least one autonomic nervous system test, either for ESC (12\/31), SSR (5\/14), or HRV (6\/19).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>\n                      Less than half of the patients with\n                      <jats:italic>RFC1<\/jats:italic>\n                      expansions exhibited the full clinical CANVAS spectrum, but nearly all exhibited typical sensory neuronopathy and abnormal H\u2010reflexes. Involvement of small nerve fibers and brainstem neurons was less common.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mus.28257","type":"journal-article","created":{"date-parts":[[2024,9,17]],"date-time":"2024-09-17T13:11:51Z","timestamp":1726578711000},"page":"1046-1052","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic\n                    <scp>\n                      <i>RFC1<\/i>\n                    <\/scp>\n                    repeat expansions"],"prefix":"10.1002","volume":"70","author":[{"given":"Claudia","family":"Calezis","sequence":"first","affiliation":[{"name":"Referral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital Aix\u2010Marseille University  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Bonello\u2010Palot","sequence":"additional","affiliation":[{"name":"Department of medical genetic La Timone University Hospital, Aix\u2010Marseille University  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Verschueren","sequence":"additional","affiliation":[{"name":"Referral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital Aix\u2010Marseille University  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Philippe","family":"Azulay","sequence":"additional","affiliation":[{"name":"Department of Neurology and Movement Disorders La Timone University Hospital, Aix\u2010Marseille University  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etienne","family":"Fortanier","sequence":"additional","affiliation":[{"name":"Referral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital Aix\u2010Marseille University  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aude\u2010Marie","family":"Grapperon","sequence":"additional","affiliation":[{"name":"Referral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital Aix\u2010Marseille University  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludivine","family":"Kouton","sequence":"additional","affiliation":[{"name":"Referral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital Aix\u2010Marseille University  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Gallard","sequence":"additional","affiliation":[{"name":"Referral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital Aix\u2010Marseille University  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Salort\u2010Campana","sequence":"additional","affiliation":[{"name":"Referral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital Aix\u2010Marseille University  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahram","family":"Attarian","sequence":"additional","affiliation":[{"name":"Referral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital Aix\u2010Marseille University  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5591-2774","authenticated-orcid":false,"given":"Emilien","family":"Delmont","sequence":"additional","affiliation":[{"name":"Referral Centre for Neuromuscular Diseases and ALS, La Timone University Hospital Aix\u2010Marseille University  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,17]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000352"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010019\u20100372\u20104"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2022.07.313"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24422"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2018.01.023"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab072"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab449"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/bpa.13051"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu196"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25902"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp136"},{"key":"e_1_2_11_13_1","volume-title":"Guide 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