Article
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain : a journal of neurology - 3 May 2024
Currò Riccardo, Dominik Natalia, Facchini Stefano, Vegezzi Elisa, Sullivan Roisin, Galassi Deforie Valentina, Fernández-Eulate Gorka, Traschütz Andreas, Rossi Salvatore, Garibaldi Matteo, Kwarciany Mariusz, Taroni Franco, Brusco Alfredo, Good Jean-Marc, Cavalcanti Francesca, Hammans Simon, Ravenscroft Gianina, Roxburgh Richard H, Parolin Schnekenberg Ricardo, Rugginini Bianca, Abati Elena, Manini Arianna, Quartesan Ilaria, Ghia Arianna, Lòpez de Munaìn Adolfo, Manganelli Fiore, Kennerson Marina, Santorelli Filippo Maria, Infante Jon, Marques Wilson, Jokela Manu, Murphy Sinéad M, Mandich Paola, Fabrizi Gian Maria, Briani Chiara, Gosal David, Pareyson Davide, Ferrari Alberto, Prados Ferran, Yousry Tarek, Khurana Vikram, Kuo Sheng-Han, Miller James, Troakes Claire, Jaunmuktane Zane, Giunti Paola, Hartmann Annette, Basak Nazli, Synofzik Matthis, Stojkovic Tanya, Hadjivassiliou Marios, Reilly Mary M, Houlden Henry, Cortese Andrea
Abstract excerpt
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...
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