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Bilateral vestibulopathy (BVP) has been reported as a recurrent feature of this disease. Here, we aimed to determine whether GAA-\n                      <jats:italic>FGF14<\/jats:italic>\n                      expansions represent a common cause of primary BVP syndromes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      <jats:italic>FGF14<\/jats:italic>\n                      genotyping, and in-depth neurological, vestibular and disease evolution phenotyping of 116 consecutive patients meeting the diagnostic criteria for BVP, including 92 with idiopathic BVP, 10 with biallelic\n                      <jats:italic>RFC1<\/jats:italic>\n                      expansions, and 14 with a secondary cause.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Two patients in the idiopathic BVP group (2\/92, 2.2%; 430 and 349 GAA repeats) and one in the\n                      <jats:italic>RFC1<\/jats:italic>\n                      -positive BVP group (1\/10, 10%; 255 GAA repeats) carried an\n                      <jats:italic>FGF14<\/jats:italic>\n                      (GAA)\n                      <jats:sub>\u2265250<\/jats:sub>\n                      expansion. No expansions were detected in the secondary BVP group. In the idiopathic BVP group, the GAA-\n                      <jats:italic>FGF14<\/jats:italic>\n                      -positive patients had mild-to-moderate BVP and a phenotype that aligned with SCA27B. The patient carrying both\n                      <jats:italic>FGF14<\/jats:italic>\n                      and biallelic\n                      <jats:italic>RFC1<\/jats:italic>\n                      expansions developed cerebellar dysfunction, downbeat nystagmus, sensory neuropathy, and BVP at age 70. Downbeat nystagmus was observed in all GAA-\n                      <jats:italic>FGF14<\/jats:italic>\n                      expansion carriers (3\/3, 100%) compared to only a minority of patients with idiopathic BVP (7\/90, 8%; Fisher\u2019s exact test,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.0009).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>\n                      The phenotypic spectrum of GAA-\n                      <jats:italic>FGF14<\/jats:italic>\n                      disease can include a relevant bilateral vestibular deficit (BVP); however,\n                      <jats:italic>FGF14<\/jats:italic>\n                      GAA expansions are overall a rare cause of primary BVP syndromes. Given the possible co-occurrence of GAA-\n                      <jats:italic>FGF14<\/jats:italic>\n                      and\n                      <jats:italic>RFC1<\/jats:italic>\n                      expansions, dual diagnosis should be considered in patients presenting with unusual or broader phenotypes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00415-026-13867-1","type":"journal-article","created":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T02:30:47Z","timestamp":1779676247000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS"],"prefix":"10.1007","volume":"273","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5807-995X","authenticated-orcid":false,"given":"David","family":"Pellerin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Heindl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Trasch\u00fctz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Iruzubieta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Jos\u00e9e","family":"Dicaire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette M.","family":"Hartmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Rujescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Brais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Strupp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthis","family":"Synofzik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,5,25]]},"reference":[{"key":"13867_CR1","doi-asserted-by":"publisher","first-page":"177","DOI":"10.3233\/ves-170619","volume":"27","author":"M Strupp","year":"2017","unstructured":"Strupp M, Kim JS, Murofushi T, Straumann D, Jen JC, Rosengren SM, Della Santina CC, Kingma H (2017) Bilateral vestibulopathy: diagnostic criteria consensus document of the Classification Committee of the B\u00e1r\u00e1ny Society. 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FH reports no disclosures. AT reports no disclosures. PI reports no disclosures. MJD reports no disclosures. SZ reports no disclosures. AMH reports no disclosures. DR served as consultant for Boehringer-Ingelheim and Janssen, received honoraria from Boehringer-Ingelheim, Gerot Lannacher, Indorsia, Janssen and Pharmagenetix, received research\/travel support from Angelini, Boehringer-Ingelheim, Janssen and Schwabe, and served on advisory boards of AC Immune, Boehringer-Ingelheim, Indorsia, Roche and Rovi, all unrelated to the present manuscript. HH reports no disclosures. BB reports no disclosures. MSt is Joint Chief Editor of the Journal of Neurology, Editor in Chief of Frontiers of Neuro-otology and Section Editor of F1000. He has received speakers\u2019 honoraria from Abbott, Auris Medical, Biogen, Eisai, Gr\u00fcnenthal, GSK, Henning Pharma, Interacoustics, J&J, MSD, NeuroUpdate, Otometrics, Pierre-Fabre, TEVA, UCB, and Viatris. He receives support for clinical studies from Decibel, U.S.A., Cure within Reach, U.S.A. and Heel, Germany. He distributes M-glasses and Positional vertigo App. He acts as a consultant for Abbott, AurisMedical, Bulbitec, Heel, IntraBio, Sensorion and Vertify. He is an investor and share-holder of IntraBio. All are unrelated to the present manuscript. MSy has received consultancy honoraria from Janssen, Ionis, Orphazyme, Insmed, Servier, Reata, Biohaven, Zevra, Lilly, GenOrph, and AviadoBio, all unrelated to the present manuscript.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"This study was approved by the ethics committee of the LMU University Hospital, LMU Munich, Germany (IRB# 379\u201311) and was performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. Written informed consent from all participants was obtained.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}],"article-number":"339"}}