Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1-disease

Andreas Traschütz, Andrea Cortese, Selina Reich, Natalia Dominik, Jennifer Faber, Heike Jacobi, Annette Hartmann, Dan Rujescu, Solveig Montaut, Andoni Echaniz-Laguna, Sevda Erer, Valerie Cornelia Schütz, Alexander Tarnutzer, Marc Sturm, Tobias Haack, Nadège Vaucamps-Diedhiou, Helene Puccio, Ludger Schöls, Thomas Klockgether, Bart P. Van De Warrenburg, Martin Paucar, Dagmar Timmann, Ralf-Dieter Hilgers, Jose Gazulla, Michael Strupp … & Matthis Synofzik
Objective: To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of RFC1-repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Methods: Multimodal RFC1 repeat screening (PCR, southern blot, whole-exome/genome (WES/WGS)-based approaches) combined with cross-sectional and longitudinal deep-phenotyping in (i) cross-European cohort A (70 families) with ≥2 features of CANVAS and/or ataxia-with-chronic-cough (ACC); and (ii) Turkish cohort B (105 families) with unselected late-onset ataxia. Results:...
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