{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:16:11Z","timestamp":1787008571037,"version":"build-2736575974"},"reference-count":48,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T00:00:00Z","timestamp":1762128000000},"content-version":"vor","delay-in-days":306,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001543","name":"Neurological Foundation of New Zealand","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001543","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016450","name":"Neurology Department","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016450","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011256","name":"Auckland City Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011256","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011366","name":"New Zealand Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011366","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"Australian National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015539","name":"Australian Government","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015539","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009074","name":"Australasian Genomic Technologies Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009074","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100024253","name":"an Australian Medical Research Future Fund Genomics Health Future Mission","doi-asserted-by":"publisher","award":["APP2007681"],"award-info":[{"award-number":["APP2007681"]}],"id":[{"id":"10.13039\/501100024253","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The finding of biallelic pathogenic pentanucleotide RFC1 expansions has extended the spectrum of disease in cerebellar ataxia, neuropathy and vestibular areflexia syndrome. It is clear that for many, a sensory neuropathy is an early feature and raises the question of how to identify which patients with this common neurophysiological presentation should be tested genetically for the condition. We identified patients with idiopathic, sensory predominant neuropathies who had attended the Neurophysiology Department of Auckland Hospital for nerve conduction studies. We undertook a systematic clinical re-evaluation to test whether any of the following hypothesized variables distinguish the presence of pathogenic RFC1 expansions. These were (i) chronic cough, (ii) ataxia, (iii) pure sensory changes on nerve conduction, (iv) a non-length-dependent pattern of sensory loss on nerve conduction studies, (v) small nerves on peripheral nerve ultrasound, (vi) bilateral vestibular dysfunction and (vii) autonomic dysfunction. We recruited 53 patients, of whom 10 had normal repeat nerve conductions. Among the 43 (25 males, 18 females) remaining patients, five were positive for the pathogenic RFC1 expansions. All five reported a chronic cough (versus 4\/38 RFC1-negative cases, P = 0.0002). None of the five cases had abnormal motor findings (versus 20\/37 RFC1-negative cases, P = 0.07). Four of the five cases had small (&amp;lt;5.2 mm2) mean upper limb nerves by cross-sectional area on ultrasound (versus 2\/38 RFC1-negative cases, P = 0.0006). The fifth had concurrent diabetes, which might explain their normal sized nerves. Four of the five cases had a non-length-dependent sensory neuropathy, and one had a length-dependent sensory neuropathy. The RFC1-positive case with a length-dependent neuropathy had small upper limb nerves on ultrasound. There were no differences in ataxia scores between the groups, and only two RFC1-positive cases had vestibular involvement. Two of the five RFC1-positive cases, both S\u0101moan, had a novel arrangement in their RFC1 expansion in which the pathogenic AAGGG expansion was preceded by a short AAAAG expansion. Taken together, in this small sample, the presence of a chronic cough with either a non-length-dependent neuropathy on nerve conduction studies or a mean upper limb nerve cross-sectional area &amp;lt;5.2 mm2 was strongly associated with the RFC1 expansion (sensitivity 100%, specificity 97%). Patients who fit these criteria should be tested genetically for RFC1. Ultrasound and nerve conduction studies should be seen as complementary in the workup of patients for RFC1 expansions.<\/jats:p>","DOI":"10.1093\/braincomms\/fcaf434","type":"journal-article","created":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T10:48:16Z","timestamp":1762166896000},"source":"Crossref","is-referenced-by-count":3,"title":["Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with\n                    <i>RFC1<\/i>\n                    expansions"],"prefix":"10.1093","volume":"7","author":[{"given":"Anthony","family":"Garvey","sequence":"first","affiliation":[{"name":"Neurology Department, Dunedin Hospital, He hauora, he kuru pounamu, Health New Zealand, Te Whatu Ora , Dunedin 9054 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I Zay","family":"Melville","sequence":"additional","affiliation":[{"name":"Physiology Department, Centre for Brain Research, University of Auckland, Waipapa Taumata Rau , Auckland 1023 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9874-3846","authenticated-orcid":false,"given":"Carolin K","family":"Scriba","sequence":"additional","affiliation":[{"name":"Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia , Nedlands, WA 6009 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivien","family":"Yong","sequence":"additional","affiliation":[{"name":"Neurology Department, Tauranga Hospital, Health New Zealand, Te Whatu Ora , Tauranga 3112 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Neurology Department, Auckland City Hospital, Te Toka Tumai, Health New Zealand, Te Whatu Ora , Auckland 1023 ,","place":["New Zealand"]},{"name":"Radiology Department, Auckland City Hospital, Te Toka Tumai, Health New Zealand, Te Whatu Ora , Auckland 1023 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin","family":"Kao","sequence":"additional","affiliation":[{"name":"Neurology Department, Auckland City Hospital, Te Toka Tumai, Health New Zealand, Te Whatu Ora , Auckland 1023 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Glenn","sequence":"additional","affiliation":[{"name":"Neurology Department, Auckland City Hospital, Te Toka Tumai, Health New Zealand, Te Whatu Ora , Auckland 1023 ,","place":["New Zealand"]},{"name":"Radiology Department, Auckland City Hospital, Te Toka Tumai, Health New Zealand, Te Whatu Ora , Auckland 1023 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shilpan","family":"Patel","sequence":"additional","affiliation":[{"name":"Neurology Department, Auckland City Hospital, Te Toka Tumai, Health New Zealand, Te Whatu Ora , Auckland 1023 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Chang","sequence":"additional","affiliation":[{"name":"Neurology Department, Auckland City Hospital, Te Toka Tumai, Health New Zealand, Te Whatu Ora , Auckland 1023 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Caldwell","sequence":"additional","affiliation":[{"name":"Radiology Department, Auckland City Hospital, Te Toka Tumai, Health New Zealand, Te Whatu Ora , Auckland 1023 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caitlyn","family":"Ren","sequence":"additional","affiliation":[{"name":"Neurology Department, Auckland City Hospital, Te Toka Tumai, Health New Zealand, Te Whatu Ora , Auckland 1023 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel G","family":"Laing","sequence":"additional","affiliation":[{"name":"Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia , Nedlands, WA 6009 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianina","family":"Ravenscroft","sequence":"additional","affiliation":[{"name":"Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia , Nedlands, WA 6009 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6443-6952","authenticated-orcid":false,"given":"Luciana","family":"Pelosi","sequence":"additional","affiliation":[{"name":"Neurology Department, Tauranga Hospital, Health New Zealand, Te Whatu Ora , Tauranga 3112 ,","place":["New Zealand"]},{"name":"Neurogenetics Clinic, Department of Medicine, Centre for Brain Research, University of Auckland, Waipapa Taumata Rau , Auckland 1023 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachael L","family":"Taylor","sequence":"additional","affiliation":[{"name":"Physiology Department, Centre for Brain Research, University of Auckland, Waipapa Taumata Rau , Auckland 1023 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Roxburgh","sequence":"additional","affiliation":[{"name":"Neurology Department, Auckland City Hospital, Te Toka Tumai, Health New Zealand, Te Whatu Ora , Auckland 1023 ,","place":["New Zealand"]},{"name":"Radiology Department, Auckland City Hospital, Te Toka Tumai, Health New Zealand, Te Whatu Ora , Auckland 1023 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,11,3]]},"reference":[{"issue":"Pt 1A","key":"2025112901525931400_fcaf434-B1","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"},{"issue":"2","key":"2025112901525931400_fcaf434-B2","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1093\/brain\/awh030","article-title":"Cerebellar ataxia with bilateral vestibulopathy: Description of a syndrome and its characteristic clinical sign","volume":"127","author":"Migliaccio","year":"2004","journal-title":"Brain"},{"issue":"22","key":"2025112901525931400_fcaf434-B3","doi-asserted-by":"crossref","first-page":"1903","DOI":"10.1212\/WNL.0b013e31821d746e","article-title":"Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome","volume":"76","author":"Szmulewicz","year":"2011","journal-title":"Neurology"},{"issue":"16","key":"2025112901525931400_fcaf434-B4","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1212\/WNL.0000000000000352","article-title":"Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS","volume":"82","author":"Szmulewicz","year":"2014","journal-title":"Neurology"},{"issue":"10","key":"2025112901525931400_fcaf434-B5","doi-asserted-by":"crossref","first-page":"2649","DOI":"10.1093\/brain\/awu196","article-title":"Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia \u201cCANVAS\u201d syndrome","volume":"137","author":"Wu","year":"2014","journal-title":"Brain"},{"issue":"4","key":"2025112901525931400_fcaf434-B6","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1111\/ene.13563","article-title":"Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: A controlled ultrasound study","volume":"25","author":"Pelosi","year":"2018","journal-title":"Eur J Neurol"},{"issue":"4","key":"2025112901525931400_fcaf434-B7","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/s41588-019-0372-4","article-title":"Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia","volume":"51","author":"Cortese","year":"2019","journal-title":"Nat Genet"},{"issue":"2","key":"2025112901525931400_fcaf434-B8","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1093\/brain\/awz418","article-title":"Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion","volume":"143","author":"Cortese","year":"2020","journal-title":"Brain"},{"issue":"3","key":"2025112901525931400_fcaf434-B9","doi-asserted-by":"crossref","first-page":"e440","DOI":"10.1212\/NXG.0000000000000440","article-title":"Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort","volume":"6","author":"Aboud Syriani","year":"2020","journal-title":"Neurol Genet"},{"issue":"11","key":"2025112901525931400_fcaf434-B10","doi-asserted-by":"crossref","first-page":"6086","DOI":"10.1007\/s00415-022-11275-9","article-title":"Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia","volume":"269","author":"Ghorbani","year":"2022","journal-title":"J Neurol"},{"issue":"9","key":"2025112901525931400_fcaf434-B11","doi-asserted-by":"crossref","first-page":"3337","DOI":"10.1007\/s00415-021-10499-5","article-title":"Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort","volume":"268","author":"Montaut","year":"2021","journal-title":"J Neurol"},{"issue":"9","key":"2025112901525931400_fcaf434-B12","doi-asserted-by":"crossref","first-page":"E1369","DOI":"10.1212\/WNL.0000000000011528","article-title":"Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1 disease","volume":"96","author":"Trasch\u00fctz","year":"2021","journal-title":"Neurology"},{"issue":"4","key":"2025112901525931400_fcaf434-B13","doi-asserted-by":"crossref","first-page":"fcad208","DOI":"10.1093\/braincomms\/fcad208","article-title":"RFC1 in an Australasian neurological disease cohort: Extending the genetic heterogeneity and implications for diagnostics","volume":"5","author":"Scriba","year":"2023","journal-title":"Brain Commun"},{"issue":"2","key":"2025112901525931400_fcaf434-B14","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/jnnp-2023-331490","article-title":"Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy","volume":"95","author":"Pellerin","year":"2023","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025112901525931400_fcaf434-B15","doi-asserted-by":"crossref","first-page":"122990","DOI":"10.1016\/j.jns.2024.122990","article-title":"Bilateral vestibulopathy as the initial presentation of CANVAS","volume":"460","author":"Gordon","year":"2024","journal-title":"J Neurol Sci"},{"issue":"2","key":"2025112901525931400_fcaf434-B16","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1136\/jnnp-2023-331381","article-title":"Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?","volume":"95","author":"Hadjivassiliou","year":"2023","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"11","key":"2025112901525931400_fcaf434-B17","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1136\/jnnp-2020-323998","article-title":"Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxia","volume":"91","author":"Van Daele","year":"2020","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"5","key":"2025112901525931400_fcaf434-B18","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1093\/brain\/awab072","article-title":"RFC1 expansions are a common cause of idiopathic sensory neuropathy","volume":"144","author":"Curr\u00f2","year":"2021","journal-title":"Brain"},{"issue":"11","key":"2025112901525931400_fcaf434-B19","doi-asserted-by":"crossref","first-page":"4280","DOI":"10.1007\/s00415-021-10552-3","article-title":"RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy","volume":"268","author":"Tagliapietra","year":"2021","journal-title":"J Neurol"},{"issue":"11","key":"2025112901525931400_fcaf434-B20","doi-asserted-by":"crossref","first-page":"1717","DOI":"10.1212\/01.wnl.0000219042.60538.92","article-title":"Scale for the assessment and rating of ataxia","volume":"66","author":"Schmitz-Hu\u0308bsch","year":"2006","journal-title":"Neurology"},{"issue":"12","key":"2025112901525931400_fcaf434-B21","doi-asserted-by":"crossref","first-page":"e00880","DOI":"10.1002\/brb3.880","article-title":"Rapid neurophysiological screening for sensory ganglionopathy: A novel approach","volume":"7","author":"Zis","year":"2017","journal-title":"Brain Behav"},{"issue":"1","key":"2025112901525931400_fcaf434-B22","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1002\/mus.27751","article-title":"Ultrasound of peripheral nerves distinguishes inherited sensory neuronopathy of cerebellar ataxia with neuropathy and vestibular areflexia syndrome from inherited axonopathy","volume":"67","author":"Pelosi","year":"2023","journal-title":"Muscle Nerve"},{"issue":"1","key":"2025112901525931400_fcaf434-B23","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1002\/mus.25476","article-title":"Peripheral nerve ultrasound in cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS)","volume":"56","author":"Pelosi","year":"2017","journal-title":"Muscle Nerve"},{"issue":"6346","key":"2025112901525931400_fcaf434-B24","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1136\/bmj.285.6346.916","article-title":"Diagnosis and management of diabetic autonomic neuropathy","volume":"285","author":"Ewing","year":"1982","journal-title":"BMJ"},{"issue":"3","key":"2025112901525931400_fcaf434-B25","first-page":"485","article-title":"New tests of vestibular function","volume":"3","author":"Halmagyi","year":"1994","journal-title":"Baillieres Clin Neurol"},{"issue":"7","key":"2025112901525931400_fcaf434-B26","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1001\/archneur.1988.00520310043015","article-title":"A clinical sign of canal paresis","volume":"45","author":"Halmagyi","year":"1988","journal-title":"Arch Neurol"},{"issue":"14","key":"2025112901525931400_fcaf434-B27","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1212\/WNL.0b013e3181bacf85","article-title":"The video head impulse test: Diagnostic accuracy in peripheral vestibulopathy","volume":"73","author":"MacDougall","year":"2009","journal-title":"Neurology"},{"issue":"7","key":"2025112901525931400_fcaf434-B28","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1590\/0004-282X20130063","article-title":"Ulnar sensory-motor amplitude ratio: A new tool to differentiate ganglionopathy from polyneuropathy","volume":"71","author":"Garcia","year":"2013","journal-title":"Arq Neuropsiquiatr"},{"issue":"7","key":"2025112901525931400_fcaf434-B29","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1093\/brain\/awp136","article-title":"The pattern and diagnostic criteria of sensory neuronopathy: A case-control study","volume":"132","author":"Camdessanch\u00e9","year":"2009","journal-title":"Brain"},{"issue":"4","key":"2025112901525931400_fcaf434-B30","doi-asserted-by":"crossref","first-page":"177","DOI":"10.3233\/VES-170619","article-title":"Bilateral vestibulopathy: Diagnostic criteria consensus document of the classification committee of the b\u00e1r\u00e1ny Society1","volume":"27","author":"Strupp","year":"2017","journal-title":"J Vestib Res."},{"key":"2025112901525931400_fcaf434-B31","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.cnp.2024.07.001","article-title":"Do measures of gain asymmetry and catch-up saccades improve video head impulse test agreement with caloric results?","volume":"9","author":"Zay Melville","year":"2024","journal-title":"Clin Neurophysiol Pract"},{"key":"2025112901525931400_fcaf434-B32","doi-asserted-by":"crossref","first-page":"69","DOI":"10.3389\/fneur.2018.00069","article-title":"Mathematical methods for measuring the visually enhanced vestibulo\u2013ocular reflex and preliminary results from healthy subjects and patient groups","volume":"9","author":"Rey-Martinez","year":"2018","journal-title":"Front Neurol"},{"issue":"12","key":"2025112901525931400_fcaf434-B33","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1212\/WNL.0b013e3182120147","article-title":"Assessing autonomic dysfunction in early diabetic neuropathy","volume":"76","author":"Zilliox","year":"2011","journal-title":"Neurology"},{"issue":"2","key":"2025112901525931400_fcaf434-B34","first-page":"65","article-title":"A simple sequentially rejective multiple test procedure","volume":"6","author":"Holm","year":"1979","journal-title":"Scand J Stat"},{"issue":"9","key":"2025112901525931400_fcaf434-B35","doi-asserted-by":"crossref","first-page":"2673","DOI":"10.1093\/brain\/awaa203","article-title":"A m\u0101ori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele","volume":"143","author":"Beecroft","year":"2020","journal-title":"Brain"},{"issue":"6","key":"2025112901525931400_fcaf434-B36","doi-asserted-by":"crossref","first-page":"2121","DOI":"10.1093\/brain\/awab449","article-title":"Motor neuron pathology in CANVAS due to RFC1 expansions","volume":"145","author":"Huin","year":"2022","journal-title":"Brain"},{"issue":"1","key":"2025112901525931400_fcaf434-B37","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1002\/mus.24981","article-title":"Facing the diagnostic challenge: Nerve ultrasound in diabetic patients with neuropathic symptoms","volume":"54","author":"Pitarokoili","year":"2016","journal-title":"Muscle Nerve"},{"key":"2025112901525931400_fcaf434-B38","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.cnp.2023.05.003","article-title":"Nerve ultrasound\u2014A screening tool for diabetic neuropathy","volume":"8","author":"Pelosi","year":"2023","journal-title":"Clin Neurophysiol Pract"},{"issue":"2","key":"2025112901525931400_fcaf434-B39","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/mus.25223","article-title":"Peripheral nerve high-resolution ultrasound in diabetes","volume":"55","author":"Breiner","year":"2017","journal-title":"Muscle Nerve"},{"issue":"9","key":"2025112901525931400_fcaf434-B40","doi-asserted-by":"crossref","first-page":"2199","DOI":"10.1002\/mds.28665","article-title":"Potential PINK1 founder effect in Polynesia causing early-onset Parkinson\u2019s disease","volume":"36","author":"Patel","year":"2021","journal-title":"Mov Disord"},{"issue":"5","key":"2025112901525931400_fcaf434-B41","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1093\/brain\/awad436","article-title":"Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease","volume":"147","author":"Curr\u00f2","year":"2024","journal-title":"Brain"},{"issue":"12","key":"2025112901525931400_fcaf434-B42","doi-asserted-by":"crossref","first-page":"5060","DOI":"10.1093\/brain\/awad240","article-title":"Normal and pathogenic variation of RFC1 repeat expansions: Implications for clinical diagnosis","volume":"146","author":"Dominik","year":"2023","journal-title":"Brain"},{"issue":"11","key":"2025112901525931400_fcaf434-B43","doi-asserted-by":"crossref","first-page":"101239","DOI":"10.1016\/j.gim.2024.101239","article-title":"The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort","volume":"26","author":"Dawson","year":"2024","journal-title":"Genet Med."},{"issue":"10","key":"2025112901525931400_fcaf434-B44","doi-asserted-by":"crossref","first-page":"2904","DOI":"10.1093\/brain\/awaa263","article-title":"A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families","volume":"143","author":"Scriba","year":"2020","journal-title":"Brain"},{"issue":"4","key":"2025112901525931400_fcaf434-B45","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1111\/jns.12655","article-title":"Nerve ultrasound in CANVAS-spectrum disease: Reduced nerve size distinguishes genetically confirmed CANVAS from other axonal polyneuropathies","volume":"29","author":"Salvalaggio","year":"2024","journal-title":"J Peripher Nerv Syst."},{"issue":"5","key":"2025112901525931400_fcaf434-B46","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1002\/mus.26029","article-title":"Nerve ultrasound in polyneuropathies","volume":"57","author":"Telleman","year":"2018","journal-title":"Muscle Nerve"},{"key":"2025112901525931400_fcaf434-B47","volume-title":"Electromyography and neuromuscular disorders","author":"Preston","year":"2020"},{"issue":"5","key":"2025112901525931400_fcaf434-B48","doi-asserted-by":"publisher","first-page":"718","DOI":"10.1002\/mus.27934","article-title":"Neuromuscular ultrasound as a marker for inherited sensory neuronopathy","volume":"68","author":"Pelosi","year":"2023","journal-title":"Muscle Nerve"}],"container-title":["Brain Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/braincomms\/advance-article-pdf\/doi\/10.1093\/braincomms\/fcaf434\/65107657\/fcaf434.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/braincomms\/article-pdf\/7\/6\/fcaf434\/65107657\/fcaf434.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/braincomms\/article-pdf\/7\/6\/fcaf434\/65107657\/fcaf434.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,29]],"date-time":"2025-11-29T06:53:12Z","timestamp":1764399192000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/braincomms\/article\/doi\/10.1093\/braincomms\/fcaf434\/8313069"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":48,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,10,30]]}},"URL":"https:\/\/doi.org\/10.1093\/braincomms\/fcaf434","relation":{},"ISSN":["2632-1297"],"issn-type":[{"value":"2632-1297","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025]]},"published":{"date-parts":[[2025]]},"article-number":"fcaf434"}}