{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T12:53:32Z","timestamp":1791982412715,"version":"4.4.0"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T00:00:00Z","timestamp":1725235200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Aims<\/jats:title><jats:p>Ultrasound nerve cross\u2010sectional area (CSA) of patients affected with axonal neuropathy usually shows normal value. Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) seems to represent an exception, showing smaller CSA, but previous reports did not test for biallelic <jats:italic>RFC1<\/jats:italic> gene repeat expansions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We compared nerve CSA from CANVAS patients (tested positive for biallelic <jats:italic>RFC1<\/jats:italic> gene repeat expansions) with the CSA from a group of patients with chronic idiopathic axonal polyneuropathy (CIAP) who tested negative for <jats:italic>RFC1<\/jats:italic> gene repeat expansions, hereditary axonal neuropathy (Charcot\u2010Marie\u2010Tooth type 2, CMT2), and Friedreich ataxia (FRDA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We enrolled 15 CANVAS patients (eight men, mean age 66.3\u2009\u00b1\u200911.5\u2009years, mean disease duration 9.3\u2009\u00b1\u20094.1\u2009years), affected with sensory axonal neuronopathy. Controls consisted of 13 CIAP (mean age 68.5\u2009\u00b1\u200912.8\u2009years, seven men), seven CMT2 (mean age 47.9\u2009\u00b1\u200918.1\u2009years, four men), 12 FRDA (mean age 33.7\u2009\u00b1\u20098.8, five men). Nerve ultrasound was performed at median, ulnar, sciatic, sural, and tibial nerves and brachial plexus, bilaterally. The nerve CSA from CANVAS patients was significantly smaller than the one from the other cohorts at several sites with significant and high accuracy at Receiver\u2010operating characteristic (ROC) curve analyses. <jats:italic>RFC1<\/jats:italic> AAGGG pentanucleotide expansion, disease duration, and disability did not correlate with CSA at any site, after Bonferroni correction.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Decreased sonographic nerve sizes, in arms and legs, in patients with sensory neuropathy and normal motor conduction studies could point to CANVAS\u2010spectrum disease and help guide appropriate genetic testing.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jns.12655","type":"journal-article","created":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T07:20:21Z","timestamp":1725261621000},"page":"464-471","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Nerve ultrasound in <scp>CANVAS<\/scp>\u2010spectrum disease: Reduced nerve size distinguishes genetically confirmed <scp>CANVAS<\/scp> from other axonal polyneuropathies"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1273-7566","authenticated-orcid":false,"given":"Alessandro","family":"Salvalaggio","sequence":"first","affiliation":[{"name":"Department of Neuroscience University of Padova  Padova Italy"},{"name":"Neurology Unit University\u2010Hospital of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Cacciavillani","sequence":"additional","affiliation":[{"name":"CEMES\u2010EMG Lab Synlab Group  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedetta","family":"Tierro","sequence":"additional","affiliation":[{"name":"Department of Neuroscience University of Padova  Padova Italy"},{"name":"Neurology Unit University\u2010Hospital of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Coraci","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Section of Rehabilitation University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Curr\u00f2","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioral Sciences University of Pavia  Pavia Italy"},{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moreno","family":"Ferrarini","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences University of Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pegoraro","sequence":"additional","affiliation":[{"name":"Department of Neuroscience University of Padova  Padova Italy"},{"name":"Neurology Unit University\u2010Hospital of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Bello","sequence":"additional","affiliation":[{"name":"Department of Neuroscience University of Padova  Padova Italy"},{"name":"Neurology Unit University\u2010Hospital of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6804-0226","authenticated-orcid":false,"given":"Gian Maria","family":"Fabrizi","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Biomedicine and Movement Sciences University of Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Filla","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Reproductive and Odontostomatological Sciences Federico II University  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Padua","sequence":"additional","affiliation":[{"name":"Department of Geriatrics and Orthopaedics Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"},{"name":"UOC Neuroriabilitazione Alta Intensit\u00e0, Fondazione Policlinico Universitario A Gemelli IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiore","family":"Manganelli","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Reproductive and Odontostomatological Sciences Federico II University  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Cortese","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioral Sciences University of Pavia  Pavia Italy"},{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8035-0200","authenticated-orcid":false,"given":"Chiara","family":"Briani","sequence":"additional","affiliation":[{"name":"Department of Neuroscience University of Padova  Padova Italy"},{"name":"Neurology Unit University\u2010Hospital of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,2]]},"reference":[{"issue":"1","key":"e_1_2_5_2_1","first-page":"1","article-title":"The neck\u2010eye reflex in patients with reduced vestibular and optokinetic function","volume":"114","author":"Bronstein AM","year":"1991","journal-title":"Brain"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010019\u20100372\u20104"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol\u20102020\u2010002822"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab072"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awad436"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25476"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13563"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010021\u201010552\u20103"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27751"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2018.12.010"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1088"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20233"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp136"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2013.07.023"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25766"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2017.31"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2018.08.016"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12182"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000001183"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp\u20102014\u2010309599"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010020\u201010127\u20108"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2024.01.004"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2014.08.014"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25018"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010010\u20100675\u20100"},{"key":"e_1_2_5_27_1","doi-asserted-by":"crossref","unstructured":"MaltbyCJ KransA GrudzienSJ et al.AAGGG repeat expansions trigger RFC1\u2010independent synaptic dysregulation in human CANVAS neurons.bioRxiv[Preprint]. 2023. doi:10.1101\/2023.12.13.571345","DOI":"10.1101\/2023.12.13.571345"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab449"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e31827e5762"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880130610"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.12655","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,9]],"date-time":"2024-12-09T05:51:12Z","timestamp":1733723472000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.12655"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,2]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1111\/jns.12655"],"URL":"https:\/\/doi.org\/10.1111\/jns.12655","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,2]]},"assertion":[{"value":"2024-04-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}