{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Curro R"],"funding":["NIHR Cambridge Biomedical Research","Italian Ministry of Health","German Research Foundation","Inherited Neuropathy Consortium, and Fondazione Regionale per la Ricerca Biomedica","Medical Research Council Mitochondrial Biology Unit","European Academy of Neurology (EAN) Research Fellowship 2021","Ataxia UK","Fondazione Regionale per la Ricerca Biomedica","Fondazione Cariplo","Deutsche Forschungsgemeinschaft","Barts Charity","Medical Research Council","International Centre for Genomic Medicine in Neuromuscular Disease, the Leverhulme Trust","NINDS NIH HHS","European Joint Programme on Rare Diseases","Wellcome Trust","Medical Research Council, the Alzheimer's Society Project"],"pagination":["1887-1898"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11068103"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["147(5)"],"pubmed_abstract":["RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat. In this study, we identified 553 patients carrying biallelic RFC1 expansions and measured the repeat expansion size in 392 cases. Pearson's coefficient was calculated to assess the correlation between the repeat size and age at disease onset. A Cox model with robust cluster standard errors was adopted to describe the effect of repeat size on age at disease onset, on age at onset of each individual symptoms, and on disease progression. A quasi-Poisson regression m"],"journal":["Brain : a journal of neurology"],"pubmed_title":["Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease."],"pmcid":["PMC11068103"],"funding_grant_id":["G-001968","RPG-2018-408","R01 NS124854","MR/T001712/1","2019-1836","CP 20/2018","MR/S006753/1","MR/N027302/2","ZHORVATH","109915/A/15/Z","1751723","MR/V009346/1","MR/N025431/2","G1000848"],"pubmed_authors":["Cortese A","Theaudin M","Santorelli FM","Fabrizi GM","Rossi S","Rugginini B","Sarto E","Kwarciany M","Wood NW","Sa'di Q","Borroni B","Leigh PN","Riva N","Bogdanova-Mihaylova P","Gemelli C","Jokela M","Devigili G","Beauchamp N","Brusco A","Chinnery PF","Grandis M","Cavalcanti F","Curro R","Castellani F","Pellerin D","Polke J","Radunovic A","Parolin Schnekenberg R","Strupp M","Palmio J","Valente EM","Tomaselli P","Durr A","Silvestri G","Tucci A","Carr A","Scriba C","Yousry T","Sahbaz I","Bugiardini E","Ferrarini M","Miller J","Cavallaro T","Dick D","El-Saddig A","Prados F","Brais B","Ferrari A","Dominik N","Di Bella D","Gallone S","Santoro L","Salsano E","Nagy S","Taroni F","Shaw J","Novis LE","Iruzubieta P","Berciano J","McConville J","Munhoz RP","Ravenscroft G","Troakes C","Quartesan I","Magrinelli F","Stojkovic T","Sumner CJ","Jaunmuktane Z","Facchini S","Traschutz A","Mandich P","Schaefer A","Szymura A","Tassorelli C","Perrone B","Carroll L","Ashton C","Roxburgh RH","Imperiale D","Manganelli F","Lavin T","Murphy SM","Koc M","Synofzik M","Laura M","Malaquias MJ","Colnaghi S","Schenone A","Pareyson D","Tessa A","Rossini E","Tagliapietra M","RFC1 repeat expansion study group","Klockgether T","Massucco S","Houlden H","Campos C","Lopez de Munain A","Khurana V","Ndayisaba A","Rossor AM","Marques W","Hadjivassiliou M","Abati E","Nemeth AH","Ghia A","Ronco R","Manini A","Salvalaggio A","Beecroft SJ","Kuo SH","Basak N","Robert A","Kennerson M","Leonardis L","Galassi Deforie V","Huin V","Reilly MM","Zuchner S","Pegoraro E","Lunn MP","Gosal D","Tozza S","Kaski D","Sullivan R","Laing N","Infante J","Hardy J","Das S","Walsh RA","Giunti P","Orsi L","Stevens J","Cosentino G","Kumar KR","Pisciotta C","Filosto M","Versino M","Mancuso M","Damasio J","Hammans S","Manji H","Good JM","Hartmann A","Briani C","Horvath R","Hewamadduma C","King A","Faber J","Garibaldi M","Albajar I","Kuntzer T","Proudfoot M","Fuller G","Magri S","Fernandez-Eulate G","Vegezzi E","Yau WY","Bellone E"],"additional_accession":[]},"is_claimable":false,"name":"Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.","description":"RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat. In this study, we identified 553 patients carrying biallelic RFC1 expansions and measured the repeat expansion size in 392 cases. Pearson's coefficient was calculated to assess the correlation between the repeat size and age at disease onset. A Cox model with robust cluster standard errors was adopted to describe the effect of repeat size on age at disease onset, on age at onset of each individual symptoms, and on disease progression. A quasi-Poisson regression m","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 May","modification":"2026-05-01T03:19:25.379Z","creation":"2025-08-27T03:10:33.556Z"},"accession":"S-EPMC11068103","cross_references":{"pubmed":["38193360"],"doi":["10.1093/brain/awad436"]}}