Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Salvatore RossiAnna RubegniVittorio RisoMelissa BarghigianiMaria Teresa BassiRoberta BattiniEnrico Silvio BertiniCristina CeredaEttore CioffiChiara CriscuoloBeatrice Dal FabbroClemente DatoMaria Grazia D'AngeloAntonio Di MuzioLuca DiamantiMaria Teresa DottiAlessandro FillaValeria GioiosaRocco LiguoriAndrea MartinuzziRoberto MassaAndrea MignarriRossana MoroniOlimpia MusumeciFrancesco NicitaIlaria OrologioLaura OrsiElena PegoraroAntonio PetrucciMassimo PlumariIvana RiccaGiovanni RizzoSilvia RomanoRoberto RumoreSimone SampaoloMarina ScarlatoMarco SeriCristina StefanGiulia StracciaAlessandra TessaLorena TravagliniRosanna TrovatoLucia UlgheriGiovanni VazzaAntonio OrlacchioGabriella SilvestriFilippo Maria SantorelliMariarosa Anna Beatrice MeloneCarlo CasaliPublished in: Neurology. Genetics (2022)
variants, whereas patients with truncating variants showed a more complicated disease. Both longer DD and altered MEPs are associated with worse disability.