Giorgia Coratti, Sonia Messina, Simona Lucibello, Maria Carmela Pera, Jacqueline Montes, Amy Pasternak, Francesca Bovis, Jessica Exposito Escudero, Elena Stacy Mazzone, Anna Mayhew, Allan M Glanzman, Sally Dunaway Young, Rachel Salazar, Tina Duong, Robert Muni Lofra, Roberto De Sanctis, Sara Carnicella, Evelin Milev, Matthew Civitello, Marika Pane, Mariacristina Scoto, Chiara Marini Bettolo, Laura Antonaci, Annalia Frongia, Maria Sframeli, Gian Luca Vita, Adele D'Amico, Marleen Van Den Hauwe, Emilio Albamonte, Nathalie Goemans, Basil T Darras, Enrico Bertini, Valeria Sansone, John Day, Andres Nascimento Osorio, Claudio Bruno, Francesco Muntoni, Darryl C De Vivo, Richard S Finkel, Eugenio Mercuri
OBJECTIVE: We report natural history data in a large cohort of 199 patients with spinal muscular atrophy (SMA) type III assessed using the Hammersmith Functional Motor Scale Expanded (HFMSE). The aim of the study was to establish the annual rate and possible patterns of progression according to a number of variables, such as age of onset, age at assessment, SMN2 copy number, and functional status. METHODS: HFMSE longitudinal changes were assessed using piecewise linear mixed-effects models...
December 2020: Annals of Neurology