Author(s): Klopstock, Prof. Thomas, MD, Bauer, Dr. Peter, MD, Dudesek, Ales, MD, Sturm, Marc, PhD, Giordano, Ilaria, MD, Harmuth, Florian, Jacobi, Heike, MD, Paap, Brigitte, PhD, Vielhaber, Stefan, MD, Machts, Judith, Schöls, Ludger, MD, Synofzik, Matthis, MD, Tallaksen, Chantal, MD, Wedding, Iselin, MD, Boesch, Sylvia, MD, Eigentler, Andreas, MD, van de Warrenburg, Bart, MD, van Gaalen, Judith, MD, Kamm, Christoph, MD, Kang, Jun-Suk, MD, Timmann, Dagmar, MD, Silvestri, Gabriella, MD, Masciullo, Marcella, MD, Neuhofer, Christiane, MD, Ganos, Christos, MD, Filla, Alessandro, MD, Tezenas du Montcel, Sophie, MD, PhD, Klockgether, Thomas, MD
Our study provides quantitative data on the clinical phenotype and progression of sporadic ataxia with adult onset. Learn more in this publication!
The objective of this study is to define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations. The primary measure of disease severity was the Scale for the Assessment and Rating of Ataxia (SARA). DNA samples were screened for mutations using a high-coverage ataxia-specific gene panel in combination with next-generation sequencing. The analysis was performed on 249 participants. Our study provides quantitative data on the clinical phenotype and progression of sporadic ataxia with adult onset.
