Kathrin Reetz, Roberto Rodríguez-Labrada, Imis Dogan, Shahram Mirzazade, Sandro Romanzetti, Jörg B Schulz, Edilia M Cruz-Rivas, Jose A Alvarez-Cuesta, Raul Aguilera Rodríguez, Yanetza Gonzalez Zaldivar, Georg Auburger, Luis Velázquez-Pérez
Objective: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease mainly affecting the cerebellum and brainstem. In this Cuban-German research collaboration, we aimed to characterize atrophy patterns and associations with clinical measures in preclinical and manifest SCA2. Methods: In this study, 16 nonmanifest SCA2 mutation carriers, 26 manifest patients with SCA2, and 18 healthy control subjects underwent magnetic resonance imaging, as well as genetic and clinical characterization including assessment of ataxia (Scale for the Assessment and Rating of Ataxia) and saccade velocity in Cuba were enrolled...
February 2018: Annals of Clinical and Translational Neurology