{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T03:16:16Z","timestamp":1788837376885,"version":"build-2803163510"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T00:00:00Z","timestamp":1744761600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Association of British Neurologists\u2019 Academic Clinical Training Research Fellowship","award":["ABN 540868"],"award-info":[{"award-number":["ABN 540868"]}]},{"name":"Association of British Neurologists\u2019 Academic Clinical Training Research Fellowship","award":["565908"],"award-info":[{"award-number":["565908"]}]},{"DOI":"10.13039\/501100012621","name":"University College London Hospitals Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012621","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018889","name":"Multiple System Atrophy Coalition","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018889","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011963","name":"European Academy of Neurology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011963","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MC_UU_00030\/14"],"award-info":[{"award-number":["MC_UU_00030\/14"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/T033371\/1"],"award-info":[{"award-number":["MR\/T033371\/1"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018956","name":"NIHR Cambridge Biomedical Research Centre","doi-asserted-by":"publisher","award":["NIHR203312"],"award-info":[{"award-number":["NIHR203312"]}],"id":[{"id":"10.13039\/501100018956","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000276","name":"Department of Health and Social Care","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000276","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003042","name":"Else Kr\u00f6ner-Fresenius-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003042","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Partial phenotypic overlap has been suggested between multiple system atrophy and spinocerebellar ataxia 27B, the autosomal dominant ataxia caused by an intronic GAA\u2022TTC repeat expansion in FGF14. In this study, we investigated the frequency of FGF14 GAA\u2022TTC repeat expansion in clinically diagnosed and pathologically confirmed multiple system atrophy cases.<\/jats:p>\n                  <jats:p>We screened 657 multiple system atrophy cases (193 clinically diagnosed and 464 pathologically confirmed) and 1003 controls. The FGF14 repeat locus was genotyped using long-range PCR and bidirectional repeat-primed PCRs, and expansions were confirmed with targeted long-read Oxford Nanopore Technologies sequencing.<\/jats:p>\n                  <jats:p>We identified 19 multiple system atrophy cases carrying an FGF14 GAA\u2265250 expansion (2.89%, n = 19\/657), a significantly higher frequency than in controls (1.40%, n = 12\/1003) (P = 0.04). Long-read Oxford Nanopore Technologies sequencing confirmed repeat sizes and polymorphisms detected by PCR, with high concordance (Pearson's r = 0.99, P &amp;lt; 0.0001). Seven multiple system atrophy patients had a pathogenic FGF14 GAA\u2265300 expansion (five pathologically confirmed and two clinically diagnosed), and 12 had intermediate GAA250\u2013299 expansion (six pathologically confirmed and six clinically diagnosed). A similar proportion of cerebellar-predominant and parkinsonism-predominant multiple system atrophy cases had FGF14 expansions. Multiple system atrophy patients carrying an FGF14 GAA\u2265250 expansion exhibited severe gait ataxia, autonomic dysfunction and parkinsonism, in keeping with a multiple system atrophy phenotype, with a faster progression to falls (P = 0.03) and regular wheelchair use (P = 0.02) in comparison to the multiple system atrophy cases without FGF14 GAA expansion. The length of the GAA\u2022TTC repeat expansion lengths was inversely correlated with survival in multiple system atrophy patients (r = \u22120.67; P = 0.02) but not with age of onset.<\/jats:p>\n                  <jats:p>Therefore, screening for FGF14 GAA\u2022TTC repeat expansion should be considered for multiple system atrophy patients with rapid loss of mobility and for complete diagnostic accuracy at inclusion in disease-modifying multiple system atrophy drug trials.<\/jats:p>","DOI":"10.1093\/brain\/awaf134","type":"journal-article","created":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T07:29:55Z","timestamp":1744615795000},"page":"3252-3265","source":"Crossref","is-referenced-by-count":8,"title":["Intronic\n                    <i>FGF14<\/i>\n                    GAA repeat expansions impact progression and survival in multiple system atrophy"],"prefix":"10.1093","volume":"148","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5817-6290","authenticated-orcid":false,"given":"Viorica","family":"Chelban","sequence":"first","affiliation":[{"name":"Neuromuscular Disease Department, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]},{"name":"Neurobiology and Medical Genetics Laboratory, \u2018Nicolae Testemitanu\u2019 State University of Medicine and Pharmacy , Chisinau MD-2004 ,","place":["Republic of Moldova"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Pellerin","sequence":"additional","affiliation":[{"name":"Neuromuscular Disease Department, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]},{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami, FL 33136 ,","place":["USA"]},{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University , Montreal, QC H3A 2B4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9671-0212","authenticated-orcid":false,"given":"Nirosen","family":"Vijiaratnam","sequence":"additional","affiliation":[{"name":"Clinical Research Centre for Movement Disorders and Gait, Kingston Centre, Parkinson\u2019s Foundation Centre of Excellence, Monash Health , Cheltenham, VIC 3192 ,","place":["Australia"]},{"name":"Department of Medicine, School of Clinical Sciences, Monash University , Clayton, VIC 3168 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamin","family":"Lee","sequence":"additional","affiliation":[{"name":"Neuromuscular Disease Department, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yen Yee","family":"Goh","sequence":"additional","affiliation":[{"name":"Neuromuscular Disease Department, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Brown","sequence":"additional","affiliation":[{"name":"Neuromuscular Disease Department, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5027-497X","authenticated-orcid":false,"given":"Sara","family":"Sambin","sequence":"additional","affiliation":[{"name":"Institut du Cerveau\u2013Paris BrainInstitute\u2013ICM, Inserm, CNRS, Sorbonne Universit\u00e9 , Paris 75651 ,","place":["France"]},{"name":"Department of Neurology, Assistance Publique H\u00f4pitaux de Paris, CIC Neurosciences, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75651 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Seilhean","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neuropathologie, Institut de Neurologie, DMU Neurosciences, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, 47\u201383 boulevard de l\u2019H\u00f4pital , Paris 75651 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephane","family":"Lehericy","sequence":"additional","affiliation":[{"name":"Institut du Cerveau\u2013Paris BrainInstitute\u2013ICM, Inserm, CNRS, Sorbonne Universit\u00e9 , Paris 75651 ,","place":["France"]},{"name":"Department of Neuroradiology, Assistance Publique H\u00f4pitaux de Paris, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75013 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0331-6222","authenticated-orcid":false,"given":"Pablo","family":"Iruzubieta","sequence":"additional","affiliation":[{"name":"Neuromuscular Disease Department, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]},{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University , Montreal, QC H3A 2B4 ,","place":["Canada"]},{"name":"Department of Neurology, Donostia University Hospital, Biogipuzkoa Health Research Institute , Donostia-San Sebasti\u00e1n 20014 ,","place":["Spain"]},{"name":"CIBERNED Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativas, Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII) , Madrid 28029 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahema","family":"Mohammad","sequence":"additional","affiliation":[{"name":"Neuromuscular Disease Department, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleanor","family":"Self","sequence":"additional","affiliation":[{"name":"Neuromuscular Disease Department, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annarita","family":"Scardamaglia","sequence":"additional","affiliation":[{"name":"Neuromuscular Disease Department, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cameron","family":"Lee","sequence":"additional","affiliation":[{"name":"Neuromuscular Disease Department, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1519-1535","authenticated-orcid":false,"given":"Miriama","family":"Ostrozovicova","sequence":"additional","affiliation":[{"name":"Neuromuscular Disease Department, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Jos\u00e9e","family":"Dicaire","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University , Montreal, QC H3A 2B4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Girges","sequence":"additional","affiliation":[{"name":"Department Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0541-7537","authenticated-orcid":false,"given":"Emil K","family":"Gustavsson","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London , London WC1N 3BG ,","place":["UK"]},{"name":"UK Dementia Research Institute, The University of Cambridge , Cambridge CB2 0AH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toby","family":"Curless","sequence":"additional","affiliation":[{"name":"Department Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]},{"name":"Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology , London WC1N 1PJ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"La\u00df","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Trinh","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck , L\u00fcbeck 23538 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1063-6937","authenticated-orcid":false,"given":"Timothy","family":"Rittman","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Cambridge University , Cambridge CB2 0SZ ,","place":["UK"]},{"name":"Department of Neurology, Cambridge University Hospitals NHS Trust , Cambridge CB2 0QQ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James B","family":"Rowe","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Cambridge University , Cambridge CB2 0SZ ,","place":["UK"]},{"name":"Department of Neurology, Cambridge University Hospitals NHS Trust , Cambridge CB2 0QQ ,","place":["UK"]},{"name":"MRC Cognition and Brain Sciences Unit , Cambridge University, Cambridge CB2 7EF ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marios","family":"Hadjivassiliou","sequence":"additional","affiliation":[{"name":"Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust, Royal Hallamshire Hospital , Sheffield S10 2JF ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Archibald","sequence":"additional","affiliation":[{"name":"Department of Neurology, South Tees NHS Foundation Trust , Middlesbrough TS4 3BW ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matt C","family":"Danzi","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami, FL 33136 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8042-6180","authenticated-orcid":false,"given":"Catherine","family":"Ashton","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University , Montreal, QC H3A 2B4 ,","place":["Canada"]},{"name":"Department of Neurology, Royal Perth Hospital , Perth, WA 6000 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Roth","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique, CHRU de Nancy , Nancy 54511 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Wandzel","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique, CHRU de Nancy , Nancy 54511 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Warren A","family":"Cheung","sequence":"additional","affiliation":[{"name":"Genomic Medicine Center, Children\u2019s Mercy Kansas City , Kansas City, MO 64108 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Djordje O","family":"Gveric","sequence":"additional","affiliation":[{"name":"Department of Brain Sciences, Imperial College London , London W12 0NN ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"De Vil","sequence":"additional","affiliation":[{"name":"Neuropathology Lab, IBB-NeuroBiobank BB190113, Born Bunge Institute , Antwerp 2610 ,","place":["Belgium"]},{"name":"Faculty of Medicine and Health Sciences, Translational Neurosciences, Born-Bunge Institute, University of Antwerp , Antwerp 2610 ,","place":["Belgium"]},{"name":"Department of Neurology, Antwerp University Hospital , Edegem 2650 ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan","family":"Follett","sequence":"additional","affiliation":[{"name":"Department of Neurology, McKnight Brain Institute, University of Florida , Florida, FL 32610 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P Nigel","family":"Leigh","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Brighton and Sussex Medical School , Brighton BN1 9PX ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lukas","family":"Beichert","sequence":"additional","affiliation":[{"name":"German Center for Neurodegenerative Diseases (DZNE) , T\u00fcbingen 72076 ,","place":["Germany"]},{"name":"Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of T\u00fcbingen , T\u00fcbingen 72076 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomi","family":"Pastinen","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, CHRU de Nancy , Nancy 54511 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Bonnet","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique, CHRU de Nancy , Nancy 54511 ,","place":["France"]},{"name":"INSERM-U1256 NGERE, Universit\u00e9 de Lorraine , Nancy 54500 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde","family":"Renaud","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, CHRU de Nancy , Nancy 54511 ,","place":["France"]},{"name":"INSERM-U1256 NGERE, Universit\u00e9 de Lorraine , Nancy 54500 ,","place":["France"]},{"name":"Service de Neurologie, CHRU de Nancy , Nancy 54511 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wassilios G","family":"Meissner","sequence":"additional","affiliation":[{"name":"Service de Neurologie-Maladies Neurod\u00e9g\u00e9n\u00e9ratives, IMNc, CRMR AMS, CHU de Bordeaux , Bordeaux 33076 ,","place":["France"]},{"name":"CNRS, IMN, UMR 5293, University of Bordeaux , Bordeaux F-33000 ,","place":["France"]},{"name":"Department of Medicine, University of Otago , Christchurch 9016 ,","place":["New Zealand"]},{"name":"New Zealand Brain Research Institute , Christchurch 8011 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Sieben","sequence":"additional","affiliation":[{"name":"Neuropathology Lab, IBB-NeuroBiobank BB190113, Born Bunge Institute , Antwerp 2610 ,","place":["Belgium"]},{"name":"Faculty of Medicine and Health Sciences, Translational Neurosciences, Born-Bunge Institute, University of Antwerp , Antwerp 2610 ,","place":["Belgium"]},{"name":"Department of Pathology, Antwerp University Hospital-UZA , Antwerp 2650 ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Crosiers","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Sciences, Translational Neurosciences, Born-Bunge Institute, University of Antwerp , Antwerp 2610 ,","place":["Belgium"]},{"name":"Department of Neurology, Antwerp University Hospital , Edegem 2650 ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Cras","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Sciences, Translational Neurosciences, Born-Bunge Institute, University of Antwerp , Antwerp 2610 ,","place":["Belgium"]},{"name":"Department of Neurology, Antwerp University Hospital , Edegem 2650 ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami, FL 33136 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Christophe","family":"Corvol","sequence":"additional","affiliation":[{"name":"Institut du Cerveau\u2013Paris BrainInstitute\u2013ICM, Inserm, CNRS, Sorbonne Universit\u00e9 , Paris 75651 ,","place":["France"]},{"name":"Department of Neurology, Assistance Publique H\u00f4pitaux de Paris, CIC Neurosciences, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75651 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew J","family":"Farrer","sequence":"additional","affiliation":[{"name":"Department of Neurology, McKnight Brain Institute, University of Florida , Florida, FL 32610 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2280-7273","authenticated-orcid":false,"given":"Matthis","family":"Synofzik","sequence":"additional","affiliation":[{"name":"German Center for Neurodegenerative Diseases (DZNE) , T\u00fcbingen 72076 ,","place":["Germany"]},{"name":"Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of T\u00fcbingen , T\u00fcbingen 72076 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1394-3561","authenticated-orcid":false,"given":"Bernard","family":"Brais","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University , Montreal, QC H3A 2B4 ,","place":["Canada"]},{"name":"Department of Human Genetics, McGill University , Montreal, QC H3A 0G4 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6195-6995","authenticated-orcid":false,"given":"Tom","family":"Warner","sequence":"additional","affiliation":[{"name":"Department Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]},{"name":"Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology , London WC1N 1PJ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5473-3774","authenticated-orcid":false,"given":"Huw R","family":"Morris","sequence":"additional","affiliation":[{"name":"Department Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zane","family":"Jaunmuktane","sequence":"additional","affiliation":[{"name":"Department Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]},{"name":"Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology , London WC1N 1PJ ,","place":["UK"]},{"name":"Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0752-1813","authenticated-orcid":false,"given":"Tom","family":"Foltynie","sequence":"additional","affiliation":[{"name":"Department Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Neuromuscular Disease Department, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,4,16]]},"reference":[{"key":"2025090219574603200_awaf134-B1","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1136\/pn-2020-002797","article-title":"Multiple system atrophy","volume":"23","author":"Goh","year":"2023","journal-title":"Pract Neurol"},{"key":"2025090219574603200_awaf134-B2","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/0022-510X(89)90219-0","article-title":"Glial cytoplasmic inclusions in the CNS of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome)","volume":"94","author":"Papp","year":"1989","journal-title":"J Neurol Sci"},{"key":"2025090219574603200_awaf134-B3","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0304-3940(98)00504-7","article-title":"Filamentous \u03b1-synuclein inclusions link multiple system atrophy with Parkinson\u2019s disease and dementia with Lewy bodies","volume":"251","author":"Spillantini","year":"1998","journal-title":"Neurosci Lett"},{"key":"2025090219574603200_awaf134-B4","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1212\/01.wnl.0000324625.00404.15","article-title":"Second consensus statement on the diagnosis of multiple system atrophy","volume":"71","author":"Gilman","year":"2008","journal-title":"Neurology"},{"key":"2025090219574603200_awaf134-B5","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1212\/WNL.0000000000001807","article-title":"When DLB, PD, and PSP masquerade as MSA: An autopsy study of 134 patients","volume":"85","author":"Koga","year":"2015","journal-title":"Neurology"},{"key":"2025090219574603200_awaf134-B6","doi-asserted-by":"crossref","first-page":"1138","DOI":"10.1093\/brain\/awab017","article-title":"Identification of multiple system atrophy mimicking Parkinson\u2019s disease or progressive supranuclear palsy","volume":"144","author":"Miki","year":"2021","journal-title":"Brain"},{"key":"2025090219574603200_awaf134-B7","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1002\/mds.29005","article-title":"The Movement Disorder Society criteria for the diagnosis of multiple system atrophy","volume":"37","author":"Wenning","year":"2022","journal-title":"Mov Disord"},{"key":"2025090219574603200_awaf134-B8","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1056\/NEJMoa1212115","article-title":"Mutations in COQ2 in familial and sporadic multiple-system atrophy","volume":"369","author":"Multiple-System Atrophy Research Collaboration","year":"2013","journal-title":"N Engl J Med"},{"key":"2025090219574603200_awaf134-B9","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1056\/NEJMc1311763","article-title":"Mutant COQ2 in multiple-system atrophy","volume":"371","author":"Jeon","year":"2014","journal-title":"N Engl J Med"},{"key":"2025090219574603200_awaf134-B10","doi-asserted-by":"crossref","first-page":"2142","DOI":"10.1016\/j.neuron.2024.04.002","article-title":"Genome sequence analyses identify novel risk loci for multiple system atrophy","volume":"112","author":"Chia","year":"2024","journal-title":"Neuron"},{"key":"2025090219574603200_awaf134-B11","doi-asserted-by":"publisher","author":"Nakahara","DOI":"10.1101\/2023.05.02.23289328"},{"key":"2025090219574603200_awaf134-B12","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1056\/NEJMoa2207406","article-title":"Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia","volume":"388","author":"Pellerin","year":"2023","journal-title":"N Engl J Med"},{"key":"2025090219574603200_awaf134-B13","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.ajhg.2022.11.015","article-title":"An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50\/ATX-FGF14","volume":"110","author":"Rafehi","year":"2023","journal-title":"Am J Hum Genet"},{"key":"2025090219574603200_awaf134-B14","doi-asserted-by":"crossref","first-page":"1950","DOI":"10.1002\/mds.29560","article-title":"Natural history and phenotypic spectrum of GAA-FGF14 sporadic late-onset cerebellar ataxia (SCA27B)","volume":"38","author":"Wirth","year":"2023","journal-title":"Mov Disord"},{"key":"2025090219574603200_awaf134-B15","doi-asserted-by":"crossref","first-page":"104931","DOI":"10.1016\/j.ebiom.2023.104931","article-title":"Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions","volume":"99","author":"M\u00e9reaux","year":"2024","journal-title":"EBioMedicine"},{"key":"2025090219574603200_awaf134-B16","doi-asserted-by":"crossref","first-page":"e1504","DOI":"10.1002\/ctm2.1504","article-title":"Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia","volume":"14","author":"Pellerin","year":"2024","journal-title":"Clin Transl Med"},{"key":"2025090219574603200_awaf134-B17","doi-asserted-by":"crossref","first-page":"4144","DOI":"10.1093\/brain\/awad157","article-title":"GAA-FGF14 ataxia (SCA27B): Phenotypic profile, natural history progression and 4-aminopyridine treatment response","volume":"146","author":"Wilke","year":"2023","journal-title":"Brain"},{"key":"2025090219574603200_awaf134-B18","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1007\/s00415-024-12182-x","article-title":"Does spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?","volume":"271","author":"Wirth","year":"2024","journal-title":"J Neurol"},{"key":"2025090219574603200_awaf134-B19","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1093\/brain\/awn291","article-title":"Riluzole treatment, survival and diagnostic criteria in Parkinson plus disorders: The NNIPPS study","volume":"132","author":"Bensimon","year":"2009","journal-title":"Brain"},{"key":"2025090219574603200_awaf134-B20","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1111\/j.1365-2990.2007.00907.x","article-title":"Proposed neuropathological criteria for the post mortem diagnosis of multiple system atrophy","volume":"33","author":"Trojanowski","year":"2007","journal-title":"Neuropathol Appl Neurobiol"},{"key":"2025090219574603200_awaf134-B21","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1001\/jamaneurol.2019.4347","article-title":"Diagnosis across the spectrum of progressive supranuclear palsy and corticobasal syndrome","volume":"77","author":"Jabbari","year":"2020","journal-title":"JAMA Neurol"},{"key":"2025090219574603200_awaf134-B22","doi-asserted-by":"crossref","first-page":"9737","DOI":"10.1038\/s41598-023-36654-8","article-title":"Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia\/spinocerebellar ataxia 27B","volume":"13","author":"Bonnet","year":"2023","journal-title":"Sci Rep"},{"key":"2025090219574603200_awaf134-B23","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1038\/s41588-024-01808-5","article-title":"A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus","volume":"56","author":"Pellerin","year":"2024","journal-title":"Nat Genet"},{"key":"2025090219574603200_awaf134-B24","first-page":"4809","article-title":"Noise-cancelling repeat finder: Uncovering tandem repeats in error-prone long-read sequencing data","volume":"35","author":"Harris","year":"2019","journal-title":"Bioinformatics (Oxford, England)"},{"key":"2025090219574603200_awaf134-B25","doi-asserted-by":"crossref","first-page":"126","DOI":"10.3390\/genes13010126","article-title":"Elucidating hexanucleotide repeat number and methylation within the X-linked dystonia-parkinsonism (XDP)-related SVA retrotransposon in TAF1 with nanopore sequencing","volume":"13","author":"L\u00fcth","year":"2022","journal-title":"Genes (Basel)"},{"key":"2025090219574603200_awaf134-B26","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1002\/mds.29559","article-title":"As frequent as polyglutamine spinocerebellar ataxias: SCA27B in a large German autosomal dominant ataxia cohort","volume":"38","author":"Hengel","year":"2023","journal-title":"Mov Disord"},{"key":"2025090219574603200_awaf134-B27","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1002\/mds.29552","article-title":"Non-GAA repeat expansions in FGF14 are likely not pathogenic\u2014reply to: \u201cShaking up ataxia: FGF14 and RFC1 repeat expansions in affected and unaffected members of a Chilean family\u201d","volume":"38","author":"Pellerin","year":"2023","journal-title":"Mov Disord"},{"key":"2025090219574603200_awaf134-B28","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":"2024","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025090219574603200_awaf134-B29","doi-asserted-by":"crossref","first-page":"120849","DOI":"10.1016\/j.jns.2023.120849","article-title":"Case series: Downbeat nystagmus in SCA27B","volume":"454","author":"Shirai","year":"2023","journal-title":"J Neurol Sci"},{"key":"2025090219574603200_awaf134-B30","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1136\/jnnp-2020-325092","article-title":"RFC1-related ataxia is a mimic of early multiple system atrophy","volume":"92","author":"Sullivan","year":"2021","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025090219574603200_awaf134-B31","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1002\/mds.28074","article-title":"RFC1 intronic repeat expansions absent in pathologically confirmed multiple systems atrophy","volume":"35","author":"Sullivan","year":"2020","journal-title":"Mov Disord"},{"key":"2025090219574603200_awaf134-B32","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"},{"key":"2025090219574603200_awaf134-B33","doi-asserted-by":"crossref","first-page":"e2912","DOI":"10.1212\/WNL.0000000000010744","article-title":"Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes","volume":"95","author":"Gisatulin","year":"2020","journal-title":"Neurology"},{"key":"2025090219574603200_awaf134-B34","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"},{"key":"2025090219574603200_awaf134-B35","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"},{"key":"2025090219574603200_awaf134-B36","doi-asserted-by":"crossref","first-page":"3643","DOI":"10.1007\/s00415-024-12308-1","article-title":"FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients","volume":"271","author":"Matsushima","year":"2024","journal-title":"J Neurol"},{"key":"2025090219574603200_awaf134-B37","doi-asserted-by":"crossref","first-page":"105077","DOI":"10.1016\/j.ebiom.2024.105077","article-title":"The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: A large cohort study","volume":"102","author":"Ouyang","year":"2024","journal-title":"EBioMedicine"},{"key":"2025090219574603200_awaf134-B38","doi-asserted-by":"crossref","first-page":"5478","DOI":"10.1007\/s00415-024-12506-x","article-title":"Spinocerebellar ataxia 27B: A frequent and slowly progressive autosomal-dominant cerebellar ataxia\u2014experience from an Italian cohort","volume":"271","author":"Satolli","year":"2024","journal-title":"J Neurol"},{"key":"2025090219574603200_awaf134-B39","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1002\/acn3.51936","article-title":"Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan","volume":"11","author":"Ando","year":"2024","journal-title":"Ann Clin Transl Neurol"},{"key":"2025090219574603200_awaf134-B40","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1002\/ana.27060","article-title":"Clinical, radiological and pathological features of a large American cohort of spinocerebellar ataxia (SCA27B)","volume":"96","author":"Abou Chaar","year":"2024","journal-title":"Ann Neurol"},{"key":"2025090219574603200_awaf134-B41","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1093\/brain\/awae312","article-title":"Somatic instability of the FGF14-SCA27B GAA\u2022TTC repeat reveals a marked expansion bias in the cerebellum","volume":"148","author":"Pellerin","year":"2025","journal-title":"Brain"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awaf134\/62941151\/awaf134.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/148\/9\/3252\/62941151\/awaf134.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/148\/9\/3252\/62941151\/awaf134.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T23:58:03Z","timestamp":1756857483000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/148\/9\/3252\/8114733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,16]]},"references-count":41,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2025,4,16]]},"published-print":{"date-parts":[[2025,9,3]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awaf134","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,9]]},"published":{"date-parts":[[2025,4,16]]}}}