Clinical phenotype of paediatric and adult patients with spinal muscular atrophy with 4 SMN2 copies: are they really all stable?
Martina RicciGianpaolo CicalaAnna CapassoGiorgia CorattiStefania FioriCostanza CutronaAdele D'AmicoValeria A SansoneClaudio BrunoSonia MessinaTiziana MonginiMichela CocciaGabriele SicilianoElena PegoraroRiccardo MassonMassimiliano MirabellaGiacomo Pietro ComiStefania P CortiDario RonchiLorenzo MaggiMaria G D'AngeloVeria VacchianoChiara TicciLucia RuggieroLorenzo VerrielloFederica S RicciAngela L BerardinelliMaria Antonietta MaioliMatteo GaribaldiVincenzo NigroStefano C PrevitaliMaria Carmela PeraEduardo TizzanoMarika PaneDanilo Francesco TizianoEugenio Mercurinull nullPublished in: Annals of neurology (2023)
Our results expand the existing literature on natural history of 4 SMN2 copies confirming the variability of phenotypes in untreated patients, ranging from type II to type IV and an overall reduction of functional scores with increasing age. This article is protected by copyright. All rights reserved.