Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Sara SatolliSalvatore RossiElisa VegezziDavid PellerinMaria Laura MancaMelissa BarghigianiCarla BattistiGiusi BilancieriGiorgia BrunoElena CapacciCarlo CasaliRoberto CeravoloSirio CocozzaStefano Cotti PiccinelliChiara CriscuoloMatt C DanziRosa De MiccoGiuseppe De MicheleMarie-Josée DicaireGrazia Maria Igea FalconeRoberto FancelluYasmine FerchichiCamilla FerrariAlessandro FillaNicola FiniAlessandra GovoniFilomena Lo VecchioAlessandro MalandriniAndrea MignarriOlimpia MusumeciClaudia NestiSabina PappatàMaria Teresa PellecchiaAlessia PernaAntonio PetrucciMaria Grazia PomponiRoberta RavenniIvana RiccaAlessandra RufaElisabetta TabolacciAlessandra TessaAlessandro TessitoreStephan ZuchnerGabriella SilvestriAndrea CorteseBernard BraisFilippo Maria SantorelliPublished in: Journal of neurology (2024)
Patients with SCA27B in Italy present as an adult-onset, slowly progressive cerebellar ataxia with predominant axial involvement and frequent cerebellar ocular motor signs. The high consistency of clinical features in SCA27B cohorts in multiple populations paves the way toward large-scale, multicenter studies.