Jennifer Faber, Moritz Berger, Carlo Wilke, Jeannette Hubener-Schmid, Tamara Schaprian, Magda M Santana, Marcus Grobe-Einsler, Demet Onder, Berkan Koyak, Paola Giunti, Hector Garcia-Moreno, Cristina Gonzalez-Robles, Manuela Lima, Mafalda Raposo, Ana Rosa Vieira Melo, Luís Pereira de Almeida, Patrick Silva, Maria M Pinto, Bart P van de Warrenburg, Judith van Gaalen, Jeroen de Vries, Gulin Oz, James M Joers, Matthis Synofzik, Ludger Schols, Olaf Riess, Jon Infante, Leire Manrique, Dagmar Timmann, Andreas Thieme, Heike Jacobi, Kathrin Reetz, Imis Dogan, Chiadikaobi Onyike, Michal Povazan, Jeremy Schmahmann, Eva-Maria Ratai, Matthias Schmid, Thomas Klockgether
Spinocerebellar ataxia type 3/Machado-Joseph disease is the most common autosomal dominant ataxia. In view of the development of targeted therapies, knowledge of early biomarker changes is needed. We analyzed cross-sectional data of 292 spinocerebellar ataxia type 3/Machado-Joseph disease mutation carriers. Blood concentrations of mutant ATXN3 were high before and after ataxia onset, whereas neurofilament light deviated from normal 13.3 years before onset. Pons and cerebellar white matter volumes decreased and deviated from normal 2...
November 14, 2023: Annals of Neurology