{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T07:44:32Z","timestamp":1788335072888,"version":"build-2803163510"},"reference-count":34,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,3,15]],"date-time":"2024-03-15T00:00:00Z","timestamp":1710460800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,3,15]],"date-time":"2024-03-15T00:00:00Z","timestamp":1710460800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["2488"],"award-info":[{"award-number":["2488"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The newly discovered intronic repeat expansions in the genes encoding replication factor C subunit 1 (\n                      <jats:italic>RFC1<\/jats:italic>\n                      ) and fibroblast growth factor 14 (\n                      <jats:italic>FGF14<\/jats:italic>\n                      ) frequently cause late\u2010onset cerebellar ataxia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      To investigate the presence of\n                      <jats:italic>RFC1<\/jats:italic>\n                      and\n                      <jats:italic>FGF14<\/jats:italic>\n                      pathogenic repeat expansions in Serbian patients with adult\u2010onset cerebellar ataxia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      The study included 167 unrelated patients with sporadic or familial cerebellar ataxia. The\n                      <jats:italic>RFC1<\/jats:italic>\n                      repeat expansion analysis was performed by duplex PCR and Sanger sequencing, while the\n                      <jats:italic>FGF14<\/jats:italic>\n                      repeat expansion was tested for by long\u2010range PCR, repeat\u2010primed PCR, and Sanger sequencing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified pathogenic repeat expansions in\n                      <jats:italic>RFC1<\/jats:italic>\n                      in seven patients (7\/167; 4.2%) with late\u2010onset sporadic ataxia with neuropathy and chronic cough. Two patients also had bilateral vestibulopathy. Repeat expansions in\n                      <jats:italic>FGF14<\/jats:italic>\n                      were found in nine unrelated patients (9\/167; 5.4%) with ataxia, less than half of whom presented with neuropathy and two\u2010thirds with global brain atrophy. Tremor and episodic features were the most frequent additional characteristics in carriers of uninterrupted\n                      <jats:italic>FGF14<\/jats:italic>\n                      repeat expansions. Among the 122 sporadic cases, 12 (9.8%) carried an expansion in either\n                      <jats:italic>RFC1<\/jats:italic>\n                      or\n                      <jats:italic>FGF14<\/jats:italic>\n                      , comparable to 4\/45 (8.9%) among the patients with a positive family history.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Pathogenic repeat expansions in\n                      <jats:italic>RFC1<\/jats:italic>\n                      and\n                      <jats:italic>FGF14<\/jats:italic>\n                      are relatively frequent causes of adult\u2010onset cerebellar ataxia, especially among sporadic patients, indicating that family history should not be considered when prioritizing ataxia patients for testing of\n                      <jats:italic>RFC1<\/jats:italic>\n                      or\n                      <jats:italic>FGF14<\/jats:italic>\n                      repeat expansions.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.14020","type":"journal-article","created":{"date-parts":[[2024,3,15]],"date-time":"2024-03-15T03:40:31Z","timestamp":1710474031000},"page":"626-633","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["<scp>\n                      <i>RFC1<\/i>\n                    <\/scp>\n                    and\n                    <scp>\n                      <i>FGF14<\/i>\n                    <\/scp>\n                    Repeat Expansions in Serbian Patients with Cerebellar Ataxia"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-5974-5265","authenticated-orcid":false,"given":"Andona","family":"Milovanovi\u0107","sequence":"first","affiliation":[{"name":"Neurology Clinic University Clinical Center of Serbia  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