{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T10:02:56Z","timestamp":1790071376953,"version":"4.0.1"},"reference-count":35,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T00:00:00Z","timestamp":1786492800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T00:00:00Z","timestamp":1786492800000},"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":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aims<\/jats:title>\n                    <jats:p>\n                      Chronic idiopathic axonal polyneuropathy (CIAP) accounts for approximately 20%\u201330% of adult\u2010onset axonal polyneuropathies. Pathogenic\n                      <jats:italic>RFC1<\/jats:italic>\n                      repeat expansions have emerged as a frequent cause of idiopathic sensory neuropathy, but their recognition in routine clinical practice may be challenging, particularly in the presence of potentially confounding comorbidities. We aimed to determine the prevalence of pathogenic\n                      <jats:italic>RFC1<\/jats:italic>\n                      repeat expansions in a well\u2010defined CIAP cohort, characterize the associated clinical and electrophysiological phenotype, and evaluate whether coexisting well\u2010controlled diabetes mellitus (DM) or monoclonal gammopathy of undetermined significance (MGUS) may hinder recognition of\n                      <jats:italic>RFC1<\/jats:italic>\n                      \u2010related neuropathy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We performed a retrospective observational study of adult patients with CIAP followed at a tertiary neuromuscular unit. All patients underwent\n                      <jats:italic>RFC1<\/jats:italic>\n                      genetic testing. Clinical and electrophysiological features were compared between\n                      <jats:italic>RFC1+<\/jats:italic>\n                      and\n                      <jats:italic>RFC1<\/jats:italic>\n                      \u2212 patients in the full cohort and after exclusion of patients with DM or MGUS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Ninety patients met CIAP criteria and were analyzed. Twenty\u2010four (27%) carried biallelic pathogenic AAGGG repeat expansions in\n                      <jats:italic>RFC1<\/jats:italic>\n                      , of whom 6 (25%) had coexisting DM or MGUS. Compared with\n                      <jats:italic>RFC1<\/jats:italic>\n                      \u2212 patients,\n                      <jats:italic>RFC1+<\/jats:italic>\n                      individuals more frequently exhibited dysautonomic symptoms, unsteadiness, history of falls, need for walking support, chronic cough, impaired vibration sense in the upper limbs and up to the knees in the lower limbs, brisk upper\u2010limb reflexes, mild cerebellar signs, an abnormal head\u2010impulse test, and a positive Romberg's test. Most of these differences persisted after exclusion of DM or MGUS. Electrophysiological studies in\n                      <jats:italic>RFC1<\/jats:italic>\n                      + patients showed widespread sensory nerve involvement, including the upper limbs, with relative motor sparing, whereas\n                      <jats:italic>RFC1<\/jats:italic>\n                      \u2212 patients exhibited a more typical length\u2010dependent pattern.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      Biallelic AAGGG repeat expansions in\n                      <jats:italic>RFC1<\/jats:italic>\n                      were identified in 27% of patients with CIAP. Specific clinical and electrophysiological features may help distinguish\n                      <jats:italic>RFC1<\/jats:italic>\n                      \u2010related disease from other forms of CIAP and identify candidates for genetic testing, even in the presence of potentially confounding comorbidities such as well\u2010controlled DM or MGUS.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jns.70155","type":"journal-article","created":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T14:33:07Z","timestamp":1786545187000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>RFC1<\/i>\n                    Repeat Expansions in Chronic Idiopathic Axonal Polyneuropathy: Prevalence, Phenotype, and Diagnostic Implications"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9520-5812","authenticated-orcid":false,"given":"Vicente","family":"Gajate\u2010Garc\u00eda","sequence":"first","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology Hospital Cl\u00ednico San Carlos, Instituto de Investigaci\u00f3n Sanitaria del Hospital Cl\u00ednico San Carlos (IdISSC)  Madrid Spain"},{"name":"Faculty of Medicine Universidad Complutense de Madrid  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7068-6306","authenticated-orcid":false,"given":"Mar\u00eda","family":"Fenollar\u2010Cort\u00e9s","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Clinical Analysis, Laboratory Medicine Institute Hospital Cl\u00ednico San Carlos, Instituto de Investigaci\u00f3n Sanitaria del Hospital Cl\u00ednico San Carlos (IdISSC)  Madrid 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